Samuel Berkovic

Q: What Schools Are Affiliated With Samuel Berkovic

Samuel Berkovic is affiliated with the following schools: University of Melbourne, University of Hamburg, University of Melbourne Faculty of Medicine, Dentistry and Health Sciences, University of Bonn

Samuel Berkovic's AcademicInfluence.com Rankings

Samuel Berkovic

Medical

#702

World Rank

#930

Historical Rank

Neurology

#66

World Rank

#112

Historical Rank

medical Degrees

Samuel Berkovic

Philosophy

#3346

World Rank

#5420

Historical Rank

Logic

#1099

World Rank

#1745

Historical Rank

philosophy Degrees

Download Badge

Medical
Philosophy

Samuel Berkovic's Degrees

Masters Medicine University of Melbourne
PhD Neurology University of Melbourne

Why Is Samuel Berkovic Influential?

(Suggest an Edit or Addition)

According to Wikipedia, Professor Samuel Frank Berkovic is an Australian neurologist and Laureate Professor in the Department of Medicine, University of Melbourne and Director of the Epilepsy Research Centre at Austin Health.

(See a Problem?)

Samuel Berkovic's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005–2009 (2010) (3881)
ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology (2017) (2773)
Analysis of shared heritability in common disorders of the brain (2016) (1385)
A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy (1995) (1063)
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B (1998) (1027)
A potassium channel mutation in neonatal human epilepsy. (1998) (1022)
doublecortin , a Brain-Specific Gene Mutated in Human X-Linked Lissencephaly and Double Cortex Syndrome, Encodes a Putative Signaling Protein (1998) (1009)
De novo mutations in the classic epileptic encephalopathies (2013) (923)
Mutations in filamin 1 Prevent Migration of Cerebral Cortical Neurons in Human Periventricular Heterotopia (1998) (840)
Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures (2001) (698)
Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. (1997) (697)
Prediction of seizure likelihood with a long-term, implanted seizure advisory system in patients with drug-resistant epilepsy: a first-in-man study (2013) (626)
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 (2013) (583)
Epileptology of the first-seizure presentation: a clinical, electroencephalographic, and magnetic resonance imaging study of 300 consecutive patients (1998) (551)
Preoperative MRI predicts outcome of temporal lobectomy (1995) (509)
The spectrum of SCN1A-related infantile epileptic encephalopathies. (2007) (491)
Temporal lobectomy: long-term seizure outcome, late recurrence and risks for seizure recurrence. (2004) (477)
Hippocampal sclerosis can be reliably detected by magnetic resonance imaging (1990) (435)
Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. (2002) (433)
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. (2012) (414)
KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy (2012) (414)
Hippocampal sclerosis in temporal lobe epilepsy demonstrated by magnetic resonance imaging (1991) (403)
Epilepsies in twins: Genetics of the major epilepsy syndromes (1998) (387)
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment (2008) (386)
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. (2001) (359)
Magnetic resonance imaging in temporal lobe epilepsy: Pathological correlations (1987) (354)
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. (2001) (352)
SCN1A mutations and epilepsy (2005) (347)
An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. (1997) (347)
Seizure Outcome after Temporal Lobectomy: Current Research Practice and Findings (2001) (344)
Sodium-channel defects in benign familial neonatal-infantile seizures (2002) (341)
GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. (2004) (329)
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2 (1995) (324)
GRIN2A mutations cause epilepsy-aphasia spectrum disorders (2013) (316)
Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder (1994) (315)
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1 (2008) (315)
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy (2012) (303)
Optimizing the diagnosis of hippocampal sclerosis using MR imaging. (1993) (302)
Progressive myoclonus epilepsies: specific causes and diagnosis. (1986) (295)
Periventricular Heterotopia: An X-Linked Dominant Epilepsy Locus Causing Aberrant Cerebral Cortical Development (1996) (295)
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. (2001) (294)
Mutations in DEPDC5 cause familial focal epilepsy with variable foci (2013) (291)
Hypothalamic hamartomas and ictal laughter: Evolution of a characteristic epileptic syndrome and diagnostic value of magnetic resonance imaging (1988) (280)
Generalized epilepsy with febrile seizures plus: A common childhood‐onset genetic epilepsy syndrome (1999) (279)
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. (2017) (276)
Seizure control and treatment in pregnancy (2006) (276)
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. (2001) (273)
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies. (2017) (272)
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study (2006) (269)
Navigating the channels and beyond: unravelling the genetics of the epilepsies (2008) (263)
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. (2006) (259)
Benign familial neonatal‐infantile seizures: Characterization of a new sodium channelopathy (2004) (256)
SRPX2 mutations in disorders of language cortex and cognition. (2006) (253)
Early‐onset absence epilepsy caused by mutations in the glucose transporter GLUT1 (2009) (249)
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine (2014) (245)
Phenotypic Characterization of an α4 Neuronal Nicotinic Acetylcholine Receptor Subunit Knock-Out Mouse (2000) (243)
Surgical outcome in patients with epilepsy and dual pathology. (1999) (238)
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. (2012) (228)
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. (2008) (227)
The hidden genetics of epilepsy—a clinically important new paradigm (2014) (225)
Familial temporal lobe epilepsy: A common disorder identified in twins (1996) (225)
Placebo-controlled study of levetiracetam in idiopathic generalized epilepsy (2007) (224)
Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies (2014) (222)
Localization of epileptic foci with postictal single photon emission computed tomography (1989) (221)
Patterns of postictal cerebral blood flow in temporal lobe epilepsy (1991) (220)
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. (2009) (220)
Failure to confirm association of a polymorphism in ABCB1 with multidrug-resistant epilepsy (2004) (218)
GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome (2014) (216)
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy (2014) (214)
Rare copy number variants are an important cause of epileptic encephalopathies (2011) (213)
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2). (1999) (213)
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies (2018) (213)
Severe Myoclonic Epilepsy of Infancy: Extended Spectrum of GEFS+? (2001) (211)
Kufs' disease: a critical reappraisal. (1988) (210)
Brivaracetam as adjunctive treatment for uncontrolled partial epilepsy in adults: A phase III randomized, double‐blind, placebo‐controlled trial (2014) (208)
Dystonia, clinical lateralization, and regional blood flow changes in temporal lobe seizures (1992) (207)
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. (2010) (206)
SPECT in the localisation of extratemporal and temporal seizure foci. (1995) (205)
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. (2008) (204)
Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants (2007) (203)
Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy (2016) (202)
Distinguishing sleep disorders from seizures: diagnosing bumps in the night. (2006) (199)
Mechanisms of human inherited epilepsies (2009) (199)
Interictal spikes and epileptic seizures: their relationship and underlying rhythmicity. (2016) (199)
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. (2016) (197)
Human epilepsies: interaction of genetic and acquired factors (2006) (196)
Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study. (1989) (196)
Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy (2007) (196)
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. (1998) (195)
Definition and diagnostic criteria of sleep-related hypermotor epilepsy (2016) (195)
Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21. (1996) (195)
Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms (2003) (192)
Genetic Association Studies in Epilepsy: “The Truth Is Out There” (2004) (191)
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations (2014) (190)
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study (2007) (189)
NREM arousal parasomnias and their distinction from nocturnal frontal lobe epilepsy: a video EEG analysis. (2009) (188)
Plasmapheresis in Rasmussen's encephalitis (1996) (186)
Concepts of absence epilepsies (1987) (183)
Postictal switch in blood flow distribution and temporal lobe seizures. (1992) (183)
Epilepsy and mental retardation limited to females: an under-recognized disorder. (2008) (180)
Seizure‐associated hippocampal volume loss: A longitudinal magnetic resonance study of temporal lobe epilepsy (2002) (179)
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals (2019) (176)
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study (2017) (173)
Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies (2018) (172)
Transcallosal Resection of Hypothalamic Hamartomas, with Control of Seizures, in Children with Gelastic Epilepsy (2001) (172)
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A (2013) (172)
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy (2015) (171)
Quinidine in the treatment of KCNT1‐positive epilepsies (2015) (171)
Somatic mutations in cerebral cortical malformations. (2014) (171)
How Mutations in the nAChRs Can Cause ADNFLE Epilepsy (2002) (169)
MR imaging and spectroscopic study of epileptogenic hypothalamic hamartomas: analysis of 72 cases. (2004) (168)
Lateralization of verbal memory and unilateral hippocampal sclerosis: evidence of task-specific effects. (1993) (166)
Comparison of ictal SPECT and interictal PET in the presurgical evaluation of temporal lobe epilepsy (1995) (165)
Characterization of mutations in the gene doublecortin in patients with double cortex syndrome (1999) (165)
Channelopathies as a genetic cause of epilepsy (2003) (164)
Magnetic stimulation of the brain in generalized epilepsy: Reversal of cortical hyperexcitability by anticonvulsants (1993) (163)
A roadmap for precision medicine in the epilepsies (2015) (162)
Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations (2010) (161)
A variant of KCC2 from patients with febrile seizures impairs neuronal Cl− extrusion and dendritic spine formation (2014) (159)
Human Epileptogenesis and Hypothalamic Hamartomas: New Lessons from an Experiment of Nature (1997) (159)
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis (2009) (158)
Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B (2002) (154)
Frontal lobe epilepsy (1993) (154)
Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation. (2003) (151)
The genetics of human epilepsy. (2003) (151)
Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults (2006) (151)
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. (2015) (151)
Gelastic seizures and hypothalamic hamartomas (1993) (149)
Hypothalamic Hamartoma and Seizures: A Treatable Epileptic Encephalopathy (2003) (149)
The Nature and Duration of Acute Concussive Symptoms in Australian Football (2000) (148)
Second impact syndrome (1998) (147)
Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency (2010) (145)
Autosomal dominant rolandic epilepsy and speech dyspraxia: A new syndrome with anticipation (1995) (144)
Double-blind, placebo controlled, crossover study of lamotrigine in treatment resistant partial seizures. (1993) (143)
Paroxysmal Motor Disorders of Sleep: The Clinical Spectrum and Differentiation from Epilepsy (2006) (143)
Periventricular nodular heterotopia and intractable temporal lobe epilepsy: Poor outcome after temporal lobe resection (1997) (142)
Genetic Architecture of Idiopathic Generalized Epilepsy: Clinical Genetic Analysis of 55 Multiplex Families (2004) (141)
Risk factors for sudden unexpected death in epilepsy: a controlled prospective study based on coroners cases (2003) (141)
Anterior temporal abnormality in temporal lobe epilepsy (1999) (141)
Mitochondrial dysfunction in multiple symmetrical lipomatosis (1991) (139)
The stroke syndrome of striatocapsular infarction. (1991) (138)
Temporal lobe epilepsy in childhood: Clinical, EEG, and neuroimaging findings and syndrome classification in a cohort with new-onset seizures (1997) (138)
New-onset temporal lobe epilepsy in children (2006) (137)
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. (2011) (136)
Hippocampal pathology in refractory temporal lobe epilepsy (2002) (136)
Retrospective study of concussive convulsions in elite Australian rules and rugby league footballers: phenomenology, aetiology, and outcome (1997) (135)
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. (2012) (134)
Recommendations for Neuroimaging of Patients with Epilepsy (1997) (133)
Life-threatening focal status epilepticus due to occult cortical dysplasia. (1993) (133)
Visual and quantitative analysis of interictal SPECT with technetium-99m-HMPAO in temporal lobe epilepsy. (1991) (132)
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation (2017) (131)
Effects of angiotensin II on dopamine and serotonin turnover in the striatum of conscious rats (1993) (130)
Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy (1998) (129)
Myoclonus epilepsy and ragged-red fibres (MERRF). 2. Electrophysiological studies and comparison with other progressive myoclonus epilepsies. (1989) (128)
Concussion: the history of clinical and pathophysiological concepts and misconceptions. (2001) (126)
Glucose transporter 1 deficiency in the idiopathic generalized epilepsies (2012) (125)
Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study (2010) (125)
The core network in absence epilepsy (2010) (125)
Febrile seizures and hippocampal sclerosis: frequent and related findings in intractable temporal lobe epilepsy of childhood. (1995) (124)
Validation of a Questionnaire for Clinical Seizure Diagnosis (1992) (123)
A de novo mutation in sporadic nocturnal frontal lobe epilepsy (2000) (121)
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. (2010) (120)
Recent advances in the molecular genetics of epilepsy (2013) (120)
Sodium channels and the neurobiology of epilepsy (2012) (119)
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. (2011) (117)
Chronic encephalitis and epilepsy in adults and adolescents (1997) (117)
Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2 (1998) (116)
Striatocapsular infarction (1984) (115)
Changes in cortical excitability differentiate generalized and focal epilepsy (2007) (114)
Genetic variation of CACNA1H in idiopathic generalized epilepsy (2004) (114)
Clinical applications: MRI, SPECT, and PET. (1995) (113)
The peri-ictal state: cortical excitability changes within 24 h of a seizure. (2009) (113)
Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [γ2(R43Q)] found in human epilepsy (2002) (112)
De novo SCN1A mutations in migrating partial seizures of infancy (2011) (111)
Susceptibility genes for complex epilepsy. (2005) (111)
Magnetic resonance imaging shows specific abnormalities in the MELAS syndrome (1991) (110)
A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A (2006) (110)
Hippocampal atrophy and T2-weighted signal changes in familial mesial temporal lobe epilepsy (2003) (109)
Hippocampal Atrophy Is Not a Major Determinant of Regional Hypometabolism in Temporal Lobe Epilepsy (1997) (107)
Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis (2019) (107)
Sleep deprivation increases cortical excitability in epilepsy (2006) (107)
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. (2013) (107)
Augmented currents of an HCN2 variant in patients with febrile seizure syndromes (2010) (106)
Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters (2002) (106)
Effect of antiepileptic medication on bone mineral measures (2005) (104)
Idiopathic generalised epilepsy of adult onset: clinical syndromes and genetics (2003) (104)
Transcallosal resection of hypothalamic hamartomas in patients with intractable epilepsy. (2003) (104)
SCN2A Mutations and Benign Familial Neonatal‐Infantile Seizures: The Phenotypic Spectrum (2007) (103)
CHD2 variants are a risk factor for photosensitivity in epilepsy (2015) (103)
Timing of de novo mutagenesis--a twin study of sodium-channel mutations. (2010) (101)
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. (2011) (101)
Limbic P3 potentials, seizure localization, and surgical pathology in temporal lobe epilepsy (1989) (100)
Focal cortical myoclonus and rolandic cortical dysplasia: Clarification by magnetic resonance imaging (1988) (100)
Ictal SPECT using technetium-99m-HMPAO: methods for rapid preparation and optimal deployment of tracer during spontaneous seizures. (1993) (100)
Corpus Callosotomy for Intractable Epilepsy: Seizure Outcome and Prognostic Factors (1993) (99)
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. (2002) (99)
Autosomal dominant nocturnal frontal lobe epilepsy: Demonstration of focal frontal onset and intrafamilial variation (1997) (99)
Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain. (1997) (99)
Video analysis of acute motor and convulsive manifestations in sport-related concussion (2000) (98)
Occipital epilepsies: identification of specific and newly recognized syndromes. (2003) (95)
Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12. (1999) (95)
Long‐term follow‐up of febrile infection–related epilepsy syndrome (2012) (94)
Parietal lobe epilepsy (1994) (94)
Precision therapy for epilepsy due to KCNT1 mutations (2018) (93)
Channelopathies in idiopathic epilepsy (2007) (92)
Predicting seizure control: Cortical excitability and antiepileptic medication (2010) (92)
Guidelines for Neuroimaging Evaluation of Patients with Uncontrolled Epilepsy Considered for Surgery (1998) (92)
Progressive Myoclonus Epilepsies: Clinical and Genetic Aspects (1993) (91)
Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency (2012) (91)
Cortical hyperexcitability in progressive myoclonus epilepsy (1993) (91)
Hippocampal sclerosis studied in identical twins (1998) (91)
Progressive gait deterioration in adolescents with Dravet syndrome. (2012) (90)
X-linked myoclonic epilepsy with spasticity and intellectual disability: Mutation in the homeobox gene ARX (2002) (90)
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure (2009) (90)
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency. (2015) (89)
Generalized epilepsy in hypothalamic hamartoma (2003) (88)
Genetic and neuroradiological heterogeneity of double cortex syndrome (2000) (88)
Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus. (2010) (88)
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5 (2015) (87)
LGI1 mutations in temporal lobe epilepsies (2004) (87)
Long‐term seizure outcome and risk factors for recurrence after extratemporal epilepsy surgery (2012) (87)
Temporal Lobe Epilepsy Subtypes: Differential Patterns of Cerebral Perfusion on Ictal SPECT (1996) (86)
Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder. (2004) (85)
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome (2015) (85)
Parental Mosaicism in "De Novo" Epileptic Encephalopathies. (2018) (85)
Increased cortical excitability in generalised epilepsy demonstrated with transcranial magnetic stimulation (1992) (85)
Double‐Blind, Placebo‐Controlled, Lamotrigine in Treatment‐Resistant Generalised Epilepsy (1998) (85)
“Pressure to laugh”: An unusual epileptic symptom associated with small hypothalamic hamartomas (2000) (85)
Genetic epilepsy with febrile seizures plus (2017) (85)
Comparison of Antiepileptic Drug Levels in Sudden Unexpected Deaths in Epilepsy with Deaths from Other Causes (1999) (84)
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 (2019) (84)
Autosomal recessive form of periventricular heterotopia (2003) (84)
Axon initial segment dysfunction in epilepsy (2010) (84)
Idiopathic Generalized Epilepsy with Generalized and Other Seizures in Adolescence (2001) (84)
Hippocampal pathology in refractory temporal lobe epilepsy: T2-weighted signal change reflects dentate gliosis (2002) (84)
Men may be more vulnerable to seizure-associated brain damage (2000) (83)
Motor cortex localization using functional MRI and transcranial magnetic stimulation. (1999) (82)
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families (2009) (81)
Ictal 99mTc‐HMPAO Single Photon Emission Computed Tomography in Children with Temporal Lobe Epilepsy (1993) (80)
Human focal seizures are characterized by populations of fixed duration and interval (2016) (80)
Why do seizures in generalized epilepsy often occur in the morning? (2009) (80)
The psychological impact of a newly diagnosed seizure: Losing and restoring perceived control (2007) (79)
The borderland of epilepsy: clinical and molecular features of phenomena that mimic epileptic seizures (2009) (79)
Idiopathic generalized epilepsy of adolescence (1995) (78)
Independent Occurrence of the CHRNA4 Ser248Phe Mutation in a Norwegian Family with Nocturnal Frontal Lobe Epilepsy (2000) (78)
A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel (2007) (76)
Copy number variants are frequent in genetic generalized epilepsy with intellectual disability (2013) (76)
Progressive myoclonus epilepsies: clinical and neurophysiological diagnosis. (1991) (76)
Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy (2017) (75)
Nicotine-Induced Dystonic Arousal Complex in a Mouse Line Harboring a Human Autosomal-Dominant Nocturnal Frontal Lobe Epilepsy Mutation (2007) (75)
Benign mesial temporal lobe epilepsy (2011) (74)
APOE ε4 genotype is associated with an earlier onset of chronic temporal lobe epilepsy (2000) (74)
Occipital epilepsies: identification of specific and newly recognized syndromes 1 1 Edited by Hans E (2003) (74)
Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance. (2010) (74)
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures (2012) (74)
Revised terminology and concepts for organization of the epilepsies: Report of the Commission on Classification and Terminology (2009) (73)
Update on pharmacogenetics in epilepsy: a brief review (2006) (73)
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 (2019) (73)
Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures (2007) (73)
CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures (2015) (73)
The electroencephalogram and acute ischemic stroke. Distinguishing cortical from lacunar infarction. (1988) (73)
Multiple Symmetrical Lipomatosis--a mitochondrial disorder of brown fat. (2013) (73)
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. (2013) (72)
Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy (2015) (72)
Idiopathic generalized epilepsy (2000) (71)
Visual recognition memory. Neurophysiological evidence for the role of temporal white matter in man. (1991) (71)
Juvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: is there overlap? (2004) (70)
TBC1D24 genotype–phenotype correlation (2016) (70)
Analyzing the Etiology of Benign Rolandic Epilepsy: A Multicenter Twin Collaboration (2006) (70)
Does cardiac conduction pathology contribute to sudden unexpected death in epilepsy? (2000) (69)
The genetic basis of music ability (2014) (69)
A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2. (2000) (69)
Generalized epilepsy with febrile seizures plus–associated sodium channel β1 subunit mutations severely reduce beta subunit–mediated modulation of sodium channel function (2007) (69)
Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction (2004) (68)
Clinical spectrum of mitochondrial DNA mutation at base pair 8344 (1991) (67)
SCN1A testing for epilepsy: Application in clinical practice (2013) (66)
Phenotypic Comparison of Two Scottish Families with Mutations in Different Genes Causing Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (2003) (66)
Multiple molecular mechanisms for a single GABAA mutation in epilepsy (2013) (66)
Neonatal seizures and long QT Syndrome: A cardiocerebral channelopathy? (2010) (65)
SYNGAP1 encephalopathy (2018) (64)
Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings (2000) (63)
Benign occipital epilepsies of childhood: clinical features and genetics. (2008) (63)
Basilar artery dissection. (1983) (63)
Epilepsy genetics: clinical impacts and biological insights (2020) (63)
Intracortical hyperexcitability in humans with a GABAA receptor mutation. (2008) (62)
Cortical excitability and Refractory epilepsy: a Three-Year longitudinal Transcranial Magnetic Stimulation Study (2013) (62)
Genetics of temporal lobe epilepsy (2003) (62)
Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients (2010) (61)
Human Nocturnal Frontal Lobe Epilepsy: Pharmocogenomic Profiles of Pathogenic Nicotinic Acetylcholine Receptor β-Subunit Mutations outside the Ion Channel Pore (2008) (61)
Cortical excitability and recovery curve analysis in generalized epilepsy (1999) (61)
Familial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12 (2004) (61)
Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy (2015) (60)
Genetic generalized epilepsies (2018) (60)
Developmental impact of a familial GABAA receptor epilepsy mutation (2008) (60)
Mutation in the Na+ channel subunit SCN1B produces paradoxical changes in peripheral nerve excitability. (2005) (60)
Neonatal Epilepsy Syndromes and Generalized Epilepsy with Febrile Seizures Plus (GEFS+) (2005) (60)
The Human Variome Project (2008) (59)
Febrile seizures: genetics and relationship to other epilepsy syndromes. (1998) (58)
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy (2016) (58)
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. (2014) (58)
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. (2013) (58)
Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome (2013) (57)
Familial clustering of seizure types within the idiopathic generalized epilepsies (2005) (57)
Genetics of the epilepsies. (2000) (57)
Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations (2011) (57)
Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease (2013) (57)
Networks underlying paroxysmal fast activity and slow spike and wave in Lennox-Gastaut syndrome (2013) (57)
The frontal lobe in absence epilepsy (2012) (56)
Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy (2008) (56)
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies. (2018) (56)
The management of epilepsy in pregnancy (2009) (55)
A Multicenter Study of BRD2 as a Risk Factor for Juvenile Myoclonic Epilepsy (2007) (55)
Clinical and molecular genetics of myoclonic–astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome) (2001) (55)
Hippocampal Sclerosis: Development in Adult Life (1999) (54)
The Genetics of Epilepsy. (2020) (54)
NEDD4‐2 as a potential candidate susceptibility gene for epileptic photosensitivity (2007) (54)
Small temporal pole encephaloceles: A treatable cause of “lesion negative” temporal lobe epilepsy (2010) (54)
Perfusion patterns during temporal lobe seizures: relationship to surgical outcome. (1997) (54)
Mind the gap: Multiple events and lengthy delays before presentation with a “first seizure” (2015) (53)
Increased serotonin receptor availability in human sleep: Evidence from an [18F]MPPF PET study in narcolepsy (2006) (52)
Aggravation of Generalized Epilepsies (1998) (52)
Is benign rolandic epilepsy genetically determined? (2004) (52)
Assessment of the role of FDG PET in the diagnosis and management of children with refractory epilepsy (2005) (52)
Epileptic spasms are a feature of DEPDC5 mTORopathy (2015) (51)
A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping. (2005) (51)
Valproate prevents the recurrence of absence status (1989) (50)
Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy (2018) (50)
Channelopathies as a genetic cause of epilepsy. (2003) (50)
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties (2017) (50)
Mortality in patients with psychogenic nonepileptic seizures (2020) (49)
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin (2009) (49)
Exploration of the Genetic Architecture of Idiopathic Generalized Epilepsies (2006) (49)
The Epilepsy Genetic Association Database (epiGAD): Analysis of 165 genetic association studies, 1996–2008 (2010) (48)
Epilepsy in twins (2004) (48)
Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability (2008) (47)
Commission on Diagnostic Strategies Recommendations for Functional Neuroimaging of Persons with Epilepsy (2000) (47)
Clinical genetic study of the epilepsy‐aphasia spectrum (2013) (46)
Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy. (2016) (46)
Epi4K: Gene discovery in 4,000 genomes (2012) (46)
Verbal memory in left temporal lobe epilepsy: Evidence for task‐related localization (2002) (45)
The Epilepsy Phenome/Genome Project (2013) (45)
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. (2017) (44)
Cognitive complaints after a first seizure in adulthood: Influence of psychological adjustment (2009) (44)
APOE epsilon4 genotype is associated with an earlier onset of chronic temporal lobe epilepsy. (2000) (44)
Prediction by modeling that epilepsy may be caused by very small functional changes in ion channels. (2009) (44)
Genetics of epilepsy (2014) (44)
Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation (2014) (44)
EEG in Adult‐onset Idiopathic Generalized Epilepsy (2003) (43)
Whole-genome linkage scan for epilepsy-related photosensitivity: A mega-analysis (2010) (43)
Vaccination, seizures and ‘vaccine damage’ (2007) (43)
The hippocampal sclerosis whodunit: Enter the genes (2000) (42)
Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA (2019) (42)
Profiles of psychosocial outcome after epilepsy surgery: The role of personality (2009) (42)
The role of neuronal GABAA receptor subunit mutations in idiopathic generalized epilepsies (2009) (42)
Multidrug‐resistant genotype (ABCB1) and seizure recurrence in newly treated epilepsy: Data from international pharmacogenetic cohorts (2009) (42)
Early seizures after temporal lobectomy predict subsequent seizure recurrence (2005) (42)
A targeted resequencing gene panel for focal epilepsy (2016) (41)
Causes of epilepsies: Insights from discordant monozygous twins (2001) (41)
Genetics of human partial epilepsy. (1997) (41)
The Dynamics of the Epileptic Brain Reveal Long-Memory Processes (2014) (41)
Psychological trajectories in the year after a newly diagnosed seizure (2012) (41)
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. (2015) (41)
Interictal Language Fluency in Temporal Lobe Epilepsy (1994) (40)
Etiology of hippocampal sclerosis (2013) (40)
Growing pains: Twin family study evidence for genetic susceptibility and a genetic relationship with restless legs syndrome (2012) (40)
Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes (2012) (40)
Genetics of Epilepsy in Clinical Practice (2015) (39)
Hemicranial Volume Deficits in Patients with Temporal Lobe Epilepsy With and Without Hippocampal Sclerosis (1998) (39)
Tramadol and new‐onset seizures (2005) (39)
Epilepsy and paroxysmal movement disorders in families: evidence for shared mechanisms. (1999) (39)
Epilepsies with single gene inheritance (1997) (39)
Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome. (2014) (39)
Ceftazidime encephalopathy: absence status and toxic hallucinations. (1992) (39)
Electroencephalographic characterisation of pentylenetetrazole-induced seizures in mice lacking the α4 subunit of the neuronal nicotinic receptor (2003) (39)
Somatic mutation: The hidden genetics of brain malformations and focal epilepsies (2019) (38)
Interictal Discourse Production in Temporal Lobe Epilepsy (2000) (38)
Progressive dystonia with bilateral putaminal hypodensities. (1987) (38)
Genetics of epilepsy syndromes in families with photosensitivity (2013) (38)
TLE patients with postictal psychosis: Mesial dysplasia and anterior hippocampal preservation (2000) (38)
Surgical Resection for Intractable Epilepsy in “Double Cortex” Syndrome Yields Inadequate Results (2001) (37)
Ictal postictal and interictal single-photon emission tomography in the lateralization of temporal lobe epilepsy (1994) (37)
New Hyperekplexia Mutations Provide Insight into Glycine Receptor Assembly, Trafficking, and Activation Mechanisms* (2013) (37)
A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration. (2018) (37)
Deaths due to brain injury among footballers in Victoria, 1968‐1999 (2000) (37)
The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield (2019) (36)
Concepts and controversies of juvenile myoclonic epilepsy: still an enigmatic epilepsy (2014) (36)
Can changes in cortical excitability distinguish progressive from juvenile myoclonic epilepsy? (2010) (36)
Genome‐wide linkage meta‐analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies (2012) (36)
A GABAA receptor mutation causing generalized epilepsy reduces benzodiazepine receptor binding (2006) (36)
Genetics of febrile seizure subtypes and syndromes: A twin study (2013) (36)
Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3 (2010) (35)
A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy. (2014) (35)
Direct and indirect measures of verbal relational memory following anterior temporal lobectomy (2002) (35)
Consistency of Long-Term Subdural Electrocorticography in Humans (2017) (35)
Balance impairment in chronic antiepileptic drug users: A twin and sibling study (2010) (35)
Single photon emission computed tomography-EEG relations in temporal lobe epilepsy (1998) (35)
Efficacy and safety of levetiracetam 1000–3000mg/day in patients with refractory partial-onset seizures: a multicenter, open-label single-arm study (2005) (35)
Prolonged cortical silent period after transcranial magnetic stimulation in generalized epilepsy (2001) (35)
Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain (2021) (34)
Surgical resection for intractable epilepsy in "double cortex" syndrome yields inadequate results. (2001) (34)
Personality development in the context of intractable epilepsy. (2009) (34)
Loss of synaptic Zn2+ transporter function increases risk of febrile seizures (2015) (33)
Does naming contribute to memory self-report in temporal lobe epilepsy? (1996) (33)
Ictal SPECT and Interictal PET in the Localization of Occipital Lobe Epilepsy (2000) (33)
Genetic literacy series: genetic epilepsy with febrile seizures plus. (2018) (33)
Intraoperative monitoring to preserve central visual fields during occipital corticectomy for epilepsy (2000) (32)
Rubral tremor: clinical features and treatment of three cases. (1984) (32)
Seizures in family members of patients with hippocampal sclerosis (2001) (32)
Components of verbal learning and hippocampal damage assessed by T2 relaxometry (2000) (32)
In vivo magnetic resonance spectroscopy of brain and muscle in a type of mitochondrial encephalomyopathy (MERRF) (1991) (32)
Concussive Convulsions (1998) (32)
Mild adolescent/adult onset epilepsy and paroxysmal exercise‐induced dyskinesia due to GLUT1 deficiency (2010) (32)
TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation (2013) (32)
Glucose metabolism transporters and epilepsy: Only GLUT1 has an established role (2014) (32)
Exercise-induced temporal lobe epilepsy. (2002) (31)
Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy. (2011) (31)
Kufs disease: clinical features and forms. (1988) (31)
ILAE Neuroimaging Commission Recommendations for Neuroimaging of Patients with Epilepsy ILAE Neuroimaging Commission (1997) (31)
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. (2020) (30)
A neurologist’s guide to genome-wide association studies (2009) (30)
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations (2017) (30)
Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations (2015) (30)
Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20. (1994) (30)
Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility (2014) (30)
Subtle Microscopic Abnormalities in Hippocampal Sclerosis Do Not Predict Clinical Features of Temporal Lobe Epilepsy (2004) (29)
Metabolic disorders presenting as stroke (1984) (28)
Harnessing Gene Expression Networks to Prioritize Candidate Epileptic Encephalopathy Genes (2014) (28)
Myoclonus and Epilepsy in Childhood (1997) (28)
SYNGAP1 encephalopathy A distinctive generalized developmental and epileptic encephalopathy (28)
Genetics of the Epilepsies (2000) (28)
Replicated effects of sex and genotype on gene expression in human lymphoblastoid cell lines. (2007) (28)
Bilateral Posterior Periventricular Nodular Heterotopia: A Recognizable Cortical Malformation with a Spectrum of Associated Brain Abnormalities (2013) (28)
Hippocampal malrotation is an anatomic variant and has no clinical significance in MRI‐negative temporal lobe epilepsy (2016) (27)
Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy (2013) (27)
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis (2012) (27)
Exome sequencing–based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death (2017) (27)
Rey figure distortions reflect nonverbal recall differences between right and left foci in unilateral temporal lobe epilepsy. (1994) (27)
Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy (2007) (27)
De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome (2017) (27)
Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNA(Leu) (UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies. (1994) (26)
Metabolic patterns and seizure outcomes following anterior temporal lobectomy (2019) (26)
Poppy tea and the baker's first seizure (1997) (26)
Sandifer syndrome misdiagnosed as refractory partial seizures in an adult. (2004) (26)
ILAE-Klassifikation der Epilepsien: Positionspapier der ILAE-Kommission für Klassifikation und Terminologie (2018) (25)
Familial focal epilepsy with variable foci mapped to chromosome 22q12: Expansion of the phenotypic spectrum (2012) (25)
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease) (2016) (25)
Impaired verbal associative learning after resection of left perirhinal cortex. (2007) (25)
Gene expression analysis in absence epilepsy using a monozygotic twin design (2008) (25)
Hippocampal Sclerosis: MR Prediction of Seizure Intractability (2007) (25)
ExACtly zero or once (2017) (24)
Tubular proteinuria in mice and humans lacking the intrinsic lysosomal protein SCARB2/Limp-2. (2011) (24)
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy (2015) (24)
LACK OF REPLICATION OF ASSOCIATION BETWEEN SCN1A SNP AND FEBRILE SEIZURES (2009) (24)
The cerebellar seizures of Hughlings Jackson (1999) (24)
ILAE Genetics Commission Conference Report: Molecular Analysis of Complex Genetic Epilepsies (2002) (24)
Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus. (2012) (24)
A twin study of genetic influences on epilepsy outcome. (2003) (23)
Absence status in adults. (1983) (23)
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. (2021) (23)
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1 q 43 , 2 p 16 . 1 , 2 q 22 . 3 and 17 q 21 . 32 (2012) (23)
Evaluation of non‐coding variation in GLUT1 deficiency (2016) (23)
Twin birth is not a risk factor for seizures (1993) (23)
Adrenomyeloneuropathy--clinical and biochemical diagnosis. (1983) (23)
Low blood glucose precipitates spike‐and‐wave activity in genetically predisposed animals (2011) (23)
The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures (2011) (23)
Functional imaging in the epilepsies (2000) (22)
The Newfoundland aggregate of neuronal ceroid-lipofuscinosis. (1988) (22)
Occurrence of Hippocampal Sclerosis: Is One Hemisphere or Gender More Vulnerable? (1999) (22)
Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome (2018) (22)
Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy (2013) (22)
Hypothalamic hamartoma and epilepsy: the pathway of discovery. (2003) (22)
Hypertensive encephalopathy (2003) (22)
Frequency of CNKSR2 mutation in the X‐linked epilepsy‐aphasia spectrum (2017) (22)
P3 latency jitter assessed using 2 techniques. I. Simulated data and surface recordings in normal subjects. (1994) (22)
Chronic encephalitis (rasmussen's syndrome) and ipsilateral uveitis (1992) (21)
Gain‐of‐function HCN2 variants in genetic epilepsy (2018) (21)
Phenotypic analysis of 303 multiplex families with common epilepsies (2017) (21)
Transcranial Magnetic Stimulation and Epilepsy (2002) (21)
Unverricht–Lundborg disease in a five-generation Arab family (2001) (21)
Paroxysmal movement disorders and epilepsy (2000) (21)
Proconvulsant-induced seizures in α4 nicotinic acetylcholine receptor subunit knockout mice (2002) (21)
Spatiotemporal alterations of central α 1-adrenergic receptor binding sites following amygdaloid kindling seizures in the rat: autoradiographic studies using [3H]prazosin (1995) (20)
Glioneuronal tumours in neurofibromatosis type 1: MRI-pathological study (2004) (20)
Genetics of the epilepsies. (1999) (20)
Multiplex families with epilepsy (2016) (20)
Epilepsy Genes and the Genetics of Epilepsy Syndromes: The Promise of New Therapies Based on Genetic Knowledge (1997) (20)
Localised neuronal migration disorder and intractable epilepsy: a prenatal vascular aetiology. (1993) (20)
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2 (2016) (20)
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features (2018) (20)
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes. (2021) (19)
Copy number variants--an unexpected risk factor for the idiopathic generalized epilepsies. (2010) (19)
Reorganization of verbal memory and language: A case of dissociation (1999) (19)
A retrospective population‐based study on seizures related to childhood vaccination (2011) (19)
Infectious mononucleosis encephalitis (1954) (19)
Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases (2014) (19)
Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+? (2009) (19)
Periventricular Nodular Heterotopia: Detection of Abnormal Microanatomic Fiber Structures with Whole-Brain Diffusion MR Imaging Tractography. (2016) (19)
Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013)) (2017) (19)
Neuroleptic malignant syndrome. (1983) (19)
SOMATIC MUTATIONS IN GLI3 CAN CAUSE HYPOTHALAMIC HAMARTOMA AND GELASTIC SEIZURES (2008) (19)
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns (2020) (19)
Evidence for genetic factors in vasovagal syncope (2012) (18)
New therapeutic opportunities in epilepsy: a genetic perspective. (2010) (18)
Seizures as presenting and prominent symptom in chorea‐acanthocytosis with c.2343del VPS13A gene mutation (2016) (18)
Treatment with anti-epileptic drugs. (2005) (18)
A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2 (2012) (18)
Genetics of vasovagal syncope (2014) (18)
Distinguishing Sleep Disorders From Seizures (2006) (17)
Revidierte Terminologie und Konzepte zur Einteilung von epileptischen Anfällen und Epilepsien: Bericht der Klassifikations- und Terminologiekommission der Internationalen Liga gegen Epilepsie, 2005–2009 (2010) (17)
In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission. (2012) (17)
Twins with different temporal lobe malformations: schizencephaly and arachnoid cyst. (1998) (17)
The severe epilepsy syndromes of infancy: A population‐based study (2021) (17)
Lateral tegmental brainstem hemorrhages (1983) (17)
In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery (2016) (17)
Is Variation in the GABA(B) Receptor 1 Gene Associated with Temporal Lobe Epilepsy? (2005) (17)
Magnetic resonance imaging of hypothalamic hamartomas causing gelastic epilepsy. (1991) (17)
Inter-session repeatability of cortical excitability measurements in patients with epilepsy (2012) (17)
Adjunctive therapy of uncontrolled partial seizures with levetiracetam in Australian patients (2007) (17)
POSTICTAL SPET IN EPILEPSY (1989) (17)
Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline (2014) (17)
Detection of microchromosomal aberrations in refractory epilepsy: a pilot study (2010) (17)
A double-blind, placebo-controlled crossover study of vigabatrin 2 g/day and 3 g/day in uncontrolled partial seizures (1996) (17)
Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation (2007) (17)
GABA-mediated tonic inhibition differentially modulates gain in functional subtypes of cortical interneurons (2019) (16)
Functional respiratory chain studies in subjects with chronic progressive external ophthalmoplegia and large heteroplasmic mitochondrial DNA deletions (1991) (16)
Temporal lobectomy for epilepsy — complicationsin 200 patients (1995) (16)
Temporal lobe dysembryoplastic neuroepithelial tumour: significance of discordant interictal spikes. (2004) (16)
Cortical microarchitecture changes in genetic epilepsy (2015) (16)
GENETIC-HETEROGENEITY IN AUTOSOMAL-DOMINANT NOCTURNAL FRONTAL-LOBE EPILEPSY (1995) (15)
An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures (2005) (15)
Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations (2013) (15)
New-onset temporal lobe epilepsy in children Lesion on MRI predicts poor seizure outcome (2006) (15)
Synaptic Zn2+ and febrile seizure susceptibility (2017) (15)
Developmental genetics of deleted mtDNA in mitochondrial oculomyopathy (1997) (15)
Association of Short-term Heart Rate Variability and Sudden Unexpected Death in Epilepsy (2021) (15)
Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations (2019) (15)
Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy (2010) (15)
Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force (2019) (15)
The borderland of epilepsy: A clinical and molecular view, 100 years on (2010) (14)
Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies (2013) (14)
Focal seizures and systemic metabolic disorders. (1982) (14)
Weight and fat distribution in patients taking valproate: A valproate‐discordant gender‐matched twin and sibling pair study (2014) (14)
Idiopathic Generalized Epilepsies: Do Sporadic and Familial Cases Differ? (2001) (14)
Functional Neuroimaging With SPECT in Children With Partial Epilepsy (1994) (14)
Plasmapheresis in Rasmussen's encephalitis. 1996. (2001) (14)
SCN1A Variants in vaccine‐related febrile seizures: A prospective study (2019) (14)
SPECT: neurobiology of periictal blood flow alterations. (2000) (14)
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly (2020) (14)
Idiopathic recurrent stupor: a warning (2004) (14)
Benign Partial Seizures of Adolescence (1999) (14)
Proximal Motor Neuropathy, Dermato-Endocrine Syndrome, and IgGk Paraproteinemia (1986) (13)
Lysosomal integral membrane protein type-2 (LIMP-2/SCARB2) is a substrate of cathepsin-F, a cysteine protease mutated in type-B-Kufs-disease. (2015) (13)
Autosomal dominant vasovagal syncope (2013) (13)
Cannabinoids for Epilepsy - Real Data, at Last. (2017) (13)
Periventricular heterotopia in 6 q terminal deletion syndrome : role of the C 6 orf 70 gene (2013) (13)
Rasmussen encephalitis and comorbid autoimmune diseases: A window into disease mechanism? (2014) (13)
Evidence for type-specific DNA methylation patterns in epilepsy: a discordant monozygotic twin approach. (2019) (13)
Mitochondrial Encephalomyopathies: A Solution to the Enigma of the Ramsay Hunt Syndrome (1987) (13)
Familial mesial temporal lobe epilepsy and the borderland of déjà vu (2017) (13)
A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy (2010) (13)
Genetics of partial epilepsies. (1999) (13)
The influence of changes in the intensity of magnetic stimulation on coil output (1993) (13)
Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress (2022) (13)
Treatment of new-onset epilepsy: seizures beget discussion (2005) (13)
Climate change and epilepsy: Insights from clinical and basic science studies (2021) (12)
Overcoming Barriers to Successful Epilepsy Management (2012) (12)
Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes (2011) (12)
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families (2020) (12)
Rare protein sequence variation in SV2A gene does not affect response to levetiracetam (2012) (12)
Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations (2012) (12)
GEFS+ where focal seizures evolve from generalized spike wave: video-EEG study of two children. (2007) (12)
ExACtly zero or once A clinically helpful guide to assessing genetic variants in mild epilepsies (12)
Bilateral volume reduction in posterior hippocampus in psychosis of epilepsy (2019) (11)
Progressive myoclonus epilepsy in young adults with neuropathologic features of Alzheimer's disease (1997) (11)
Mutations in LGI1 in an Australian family with familial temporal lobe epilepsy with auditory features. (2002) (11)
Action myoclonus–renal failure syndrome: A cause for worsening tremor in young adults (2006) (11)
Endozepine stupor: disease or deception? A critical review. (2004) (11)
Functional respiratory chain studies in mitochondrial cytopathies. Support for mitochondrial DNA heteroplasmy in myoclonus epilepsy and ragged red fibers (MERRF) syndrome (2004) (11)
Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy. (2021) (11)
Is Photosensitive Epilepsy Less Common in Males Due to Variation in X Chromosome Photopigment Genes? (2007) (11)
Prolactin Levels in Sudden Unexpected Death in Epilepsy (2000) (11)
Diverse genetic causes of polymicrogyria with epilepsy (2021) (11)
Diverse genetic causes of polymicrogyria with epilepsy (2021) (11)
'Idiopathic' no more! Abnormal interaction of large-scale brain networks in generalized epilepsy. (2014) (11)
Medial and lateral contributions to verbal memory: Evidence from temporal lobe epilepsy (2002) (10)
Familial Lennox‐Gastaut syndrome in male siblings with a novel DCX mutation and anterior pachygyria (2010) (10)
Clinical and genetic analysis of a family with two rare reflex epilepsies (2015) (10)
Febrile Convulsions and Genetic Susceptibility: Role of the Neuronal Nicotinic Acetylcholine Receptor α4 Subunit (2004) (10)
Assessing the role of rare genetic variants in drug‐resistant, non‐lesional focal epilepsy (2021) (10)
Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndrome. (2017) (10)
Hepatotoxicity of sodium valproate. (1983) (10)
Abnormal Processing of Autophagosomes in Transformed B Lymphocytes from SCARB2-Deficient Subjects (2013) (10)
Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy (2020) (10)
Cerebrospinal fluid neurofilament light chain differentiates primary psychiatric disorders from rapidly progressive, Alzheimer's disease and frontotemporal disorders in clinical settings (2022) (10)
Febrile seizures: traffic slows in the heat. (2006) (10)
Are epilepsy classifications based on epileptic syndromes and seizure types outdated? (2006) (10)
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients (2020) (10)
Rasmussen encephalitis and comorbid autoimmune diseases (2014) (10)
For generalized seizures associated with the Lennox-Gastaut syndrome (1997) (10)
Epileptology of the first-seizure presentation (1998) (9)
Proconvulsant-induced seizures in alpha(4) nicotinic acetylcholine receptor subunit knockout mice. (2002) (9)
A case series of lacosamide as adjunctive therapy in refractory sleep‐related hypermotor epilepsy (previously nocturnal frontal lobe epilepsy) (2018) (9)
Do mutations in SCN1B cause Dravet syndrome? (2013) (9)
Reply: Transcranial magnetic stimulation as a biomarker for epilepsy. (2017) (9)
EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. (2020) (9)
Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations. (2017) (9)
P3 latency jitter assessed using 2 techniques. II. Surface and sphenoidal recordings in subjects with focal epilepsy. (1994) (9)
Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy? (2020) (9)
A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy. (2015) (9)
What happens now? Ongoing outcome after post-temporal lobectomy seizure recurrence (2006) (8)
Concussion (2001) (8)
New autosomal-dominant partial epilepsy syndrome (1994) (8)
Development of a rapid functional assay that predicts GLUT1 disease severity (2018) (8)
Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion (2018) (8)
Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania (2019) (8)
Progressive myoclonus epilepsy associated with SACS gene mutations (2016) (8)
Newly diagnosed seizures assessed at two established first seizure clinics: Clinic characteristics, investigations, and findings over 11 years (2020) (8)
SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood (2017) (8)
Current practice in diagnostic genetic testing of the epilepsies (2022) (7)
Antiepileptic Drug Teratogenicity and De Novo Genetic Variation Load (2020) (7)
Splice variant in ARX leading to loss of C‐terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy (2019) (7)
Clinical features of seizures associated with parahippocampal/inferior temporal lesions compared to those with hippocampal sclerosis (2010) (7)
TEMPORAL LOBE EPILEPSY IN HYPOSEXUAL MEN (1984) (7)
Parahippocampal epilepsy with subtle dysplasia: A cause of “imaging negative” partial epilepsy (2009) (7)
Anterior temporal encephaloceles: Elusive, important, and rewarding to treat (2020) (7)
State transitions through inhibitory interneurons in a cortical network model (2021) (7)
Reduced variance in monozygous twins for multiple MR parameters: Implications for disease studies and the genetic basis of brain structure (2010) (7)
Hippocampal T2 Abnormalities Correlate with Antecedent Events and Help Predict Seizure Intractability (1999) (7)
Central pontine myelinolysis with widespread extrapontine lesions: a report of two cases. (1984) (7)
The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective (2020) (7)
Association Between Psychiatric Comorbidities and Mortality in Epilepsy (2021) (6)
Epilepsy in families: Age at onset is a familial trait, independent of syndrome (2019) (6)
Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome (2015) (6)
Epilepsy in Offspring of Whom Both Parents Have Idiopathic Generalized Epilepsy: Biparental Inheritance (2003) (6)
Evaluation of GLUT1 variation in non-acquired focal epilepsy (2017) (6)
Contribution of rare genetic variants to drug response in absence epilepsy (2021) (6)
Multifocal epilepsy: the role of palliative resection - intractable frontal and occipital lobe epilepsy secondary to radiotherapy for acute lymphoblastic leukaemia. (2008) (6)
Human GABRG2 generalized epilepsy (2019) (6)
Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus (2021) (6)
Genetic linkage studies in familial frontal epilepsy: Exclusion of the human chromosome regions homologous to the El-1 mouse locus (1995) (6)
Benign Neonatal Sleep Myoclonus (2012) (6)
Expression of the Transmembrane Lysosomal Protein SCARB2/Limp-2 in Renin Secretory Granules Controls Renin Release (2013) (6)
Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy (2015) (6)
Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus? (2016) (6)
Can mutation‐mediated effects occurring early in development cause long‐term seizure susceptibility in genetic generalized epilepsies? (2018) (6)
Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy (2022) (6)
The first gene for an idiopathic epilepsy: a fruitful collaboration of Australian clinical research and molecular genetics. (1996) (6)
Rare sudden unexpected death in epilepsy SCN5A variants cause changes in channel function implicating cardiac arrhythmia as a cause of death (2022) (6)
Does variation in NIPA2 contribute to genetic generalized epilepsy? (2014) (6)
Epilepsy risk in offspring of affected parents; a cohort study of the “maternal effect” in epilepsy (2020) (5)
Familial epilepsies: quality of life issues in genetic research. (2000) (5)
Targeted resequencing in epileptic encephalopathies reveals marked genetic heterogeneity and novel genes (2013) (5)
Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes (2022) (5)
Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes (2022) (5)
concepts and misconceptions Concussion: The history of clinical and pathophysiological (2001) (5)
Adjunctive Transdermal Cannabidiol for Adults With Focal Epilepsy (2022) (5)
Plasma neurofilament light chain protein is not increased in treatment-resistant schizophrenia and first-degree relatives (2021) (5)
Visual and QuantitativeAnalysis of Interictal SPECTwith Technetium-99m-HMPAOin Temporal Lobe Epilepsy (1991) (5)
Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS (2020) (5)
Prediction of drug resistance in epilepsy: not as easy as ABC (2006) (5)
Functional correlates of clinical phenotype and severity in recurrent SCN2A variants (2022) (5)
Deciphering the role of epigenetics in self-limited epilepsy with centrotemporal spikes (2019) (5)
Association of a nicotinic receptor mutation with reduced height and blunted physostigmine-stimulated growth hormone release. (2008) (5)
Epilepsy syndromes: effects on cognition, performance and driving ability. (2000) (5)
Seizure outcome and pathological findings following temporal lobectomy in patients with complex partial seizures and foreign tissue lesions seen only on MRI (1994) (4)
Association studies and functional validation or functional validation alone? (2007) (4)
Siblings with refractory occipital epilepsy showing localized network activity on EEG‐fMRI (2013) (4)
Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies (2022) (4)
Carotid plaques and retinal emboli: a clinical, angiographic and morphological study. (1983) (4)
A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam (2022) (4)
Molecular genetics of the idiopathic epilepsies: the next steps.... (2001) (4)
Long memory processes are revealed in the dynamics of the epileptic brain (2014) (4)
P.1.20 GOSR2: A novel form of Congenital Muscular Dystrophy (2013) (4)
Genome-wide meta-analysis of over 29,000 people with epilepsy reveals 26 loci and subtype-specific genetic architecture (2022) (4)
Intractable partial epilepsy following low‐dose scalp irradiation in infancy (1995) (4)
Ictal recordings in benign partial epilepsy of childhood with centrotemporal spikes (1995) (4)
Postictal Psychosis in Epilepsy: A Clinicogenetic Study (2021) (4)
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy (2019) (4)
CHAPTER 1 – Introduction to Epilepsy (2005) (3)
Enlarged hippocampal fissure in psychosis of epilepsy (2020) (3)
Loss‐of‐function variants in Kv11.1 cardiac channels as a biomarker for SUDEP (2021) (3)
Genome-wide association study of febrile seizures identifies seven new loci implicating fever response and neuronal excitability genes (2020) (3)
Evidence of linkage to chromosome 5p13.2‐q11.1 in a large inbred family with genetic generalized epilepsy (2018) (3)
Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome (2022) (3)
Clinical Research Independent Occurrence of the CHRNA4 Ser248Phe Mutation in a Norwegian Family with Nocturnal Frontal Lobe Epilepsy (2000) (3)
KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood (2018) (3)
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy (2021) (3)
Novel mutations in the KCNQ 2 gene link epilepsy to a dysfunction of the KCNQ 2-calmodulin interaction (2004) (3)
Progressive Myoclonus Epilepsies (2021) (3)
P16-4 Cortical excitability and the menstrual cycle: reversal of normal patterns in new onset epilepsy (2010) (3)
Using common genetic variants to find drugs for common epilepsies (2021) (3)
Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery (2022) (3)
Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy (2020) (3)
Transcriptome analysis of a ring chromosome 20 patient cohort (2020) (3)
Epilepsy research in 2016: new treatment directions (2017) (3)
Abstracts from the 21st International Epilepsy Congress, Sydney, Australia, September 3-8, 1995 (1995) (3)
Genetics of Focal Epilepsy, Clinical Aspects and Molecular Biology (1999) (2)
Epileptic encephalopathies of infancy: welcome advances (2019) (2)
Chapter 42 The idiopathic generalized epilepsies across life (2004) (2)
Double-Blind, Placebo-Controlled, Lamotrigine in Treatment-Resistant (1998) (2)
Machine learning approaches for imaging‐based prognostication of the outcome of surgery for mesial temporal lobe epilepsy (2022) (2)
CLINICAL AND NEUROPHYSIOLOGICAL FEATURES OF PROGRESSIVE MYOCLONUS EPILEPSY ( PME) ASSOCIATED WITH SCARB2 MUTATIONS WITHOUT RENAL FAILURE (2010) (2)
Dementia and myoclonus: Differential diagnosis of early‐onset alzheimer's disease (1995) (2)
Increased cortical thickness in nodes of the cognitive control and default mode networks in psychosis of epilepsy (2022) (2)
Identification of a recurrent mosaic KRAS variant in brain tissue from an individual with nevus sebaceous syndrome (2021) (2)
Cortical Metabolic Dysfunction in a Mitochondrial Encephalomyopathy (MERRF) Demonstrated by Positron Emission Tomography (1987) (2)
Revidierte Terminologie und Konzepte zur Einteilung von epileptischen Anfällen und Epilepsien (2010) (2)
Improving Specificity of Cerebrospinal Fluid Liquid Biopsy for Genetic Testing (2021) (2)
Behavioural status during the intracarotid amobarbital procedure (Wada test): relevance for surgical management (1999) (2)
ILAE Genetics Commission Conference Report: Molecular Analysis of Complex Genetic Epilepsies (2002) (2)
Hypothalamic Hamartomas (2021) (2)
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy (2022) (2)
OPL204 Amyloid imaging in Lewy Body Dementia with 11C-PIB-PET (2005) (2)
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions. (2022) (2)
Ramsay Hunt syndrome: to bury or to praise. (1990) (2)
Cutting edge approaches to detecting brain mosaicism associated with common focal epilepsies: implications for diagnosis and potential therapies (2021) (2)
Surgical treatment of temporal lobe epilepsy (2002) (2)
The “maternal effect” on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence (2019) (2)
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting (2022) (2)
Obstetric Events as a Risk Factor for Febrile Seizures: A Community-Based Twin Study (2008) (2)
receptors is a susceptibility locus for Generalised Epilepsies (2004) (2)
Are myotonia and epilepsy linked by a chloride channel? (2013) (2)
Loss-of-function variants in the cardiac Kv11.1 channel as a genetic biomarker for SUDEP (2021) (1)
Epilepsy and Movement Disorders: Nocturnal frontal lobe epilepsy (2001) (1)
Genetic factors and shared environment contribute equally to objective singing ability (2022) (1)
Myoclonic-astatic epilepsy: Consanguineous families suggest autosomal recessive inheritance (2007) (1)
Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome (2022) (1)
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. (2021) (1)
Does variation in NIPA2 contribute to genetic generalized epilepsy? (2014) (1)
Epilepsy: progress in solving mysteries and dispelling myths (1996) (1)
What is the motor vehicle crash risk for drivers with epilepsy? A systematic review (2021) (1)
Epilepsy: insights into causes and treatment dilemmas (2010) (1)
PO18-WE-04 Neuroepidemiology and genetics of epilepsy among Jews and Arabs in Israel (2009) (1)
Components of verbal memory and hippocampal sclerosis measured by T2 relaxometry (2000) (1)
Presurgical evaluation in patients with hypothalamic hamartomas (2003) (1)
Generalized, focal, and combined epilepsies in families: New evidence for distinct genetic factors (2020) (1)
Absence status (1990) (1)
Genes4Epilepsy: an epilepsy gene resource. (2023) (1)
Proximal motor neuropathy, dermato-endocrine syndrome, and IgG kappa paraproteinemia. (1986) (1)
Seizures in patients with hypothalamic hamartoma: A study of ictal semiology with concurrent EEG (2006) (1)
Infectious mononucleosis encephalitis. Possible therapeutic response to vidarabine. (1982) (1)
The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile (2022) (1)
Experience with continuous ambulatory EEG monitoring. (1984) (1)
Long term outcome of temporal lobe epilepsy surgery: analyses of 140 consecutive patients. Commentary (2002) (1)
ILAE Genetic Literacy Series: familial focal epilepsy syndromes. (2021) (1)
10. Pathway to chronicity: Cortical excitability changes associated with refractory epilepsy (2010) (1)
Evolving Understanding and Management (1)
SCLEROSIS Reliability of Visual Diagnosis and Implications for Surgical Treatment (1)
Somatic Ras/Raf/MAPK Variants Enriched in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy (2022) (1)
P16-5 Post-operative reduction in cortical excitability correlates with seizure freedom (2010) (1)
O019 Gait and function in Dravet syndrome (2008) (1)
The idiopathic generalized epilepsies across life. (2004) (1)
Adults with Epilepsy: Is Monotherapy the Only Answer? (1997) (1)
Is a microRNA‐328 binding site in PAX6 associated with Rolandic epilepsy? (2017) (1)
P2.2 Epilepsy: an ever changing state of cortical hyper-excitability (2011) (1)
Diagnostic delay in focal epilepsy: Association with brain pathology and age (2022) (1)
Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy. (2019) (1)
Significance of post-operative auras after temporal lobectomy: A surprising methodological trap (2012) (1)
Localization of epileptic foci by single-photon emission tomography with new radiotracers (1994) (1)
Extended follow‐up after anterior temporal lobectomy demonstrates seizure recurrence 20+ years postsurgery (2022) (1)
Human nocturnal frontal lobe epilepsy : pharmocogenomic profiles of pathogenic nAChR β-subunit mutations outside the ion channel pore (2008) (1)
Interictal EEG and ECG for SUDEP Risk Assessment: A Retrospective Multicenter Cohort Study (2022) (1)
Loss-of-function variants in the KCNQ5 gene are associated with genetic generalized epilepsies (2021) (1)
BENZODIAZEPINE EFFICACY IN A MOUSE MODEL OF ABSENCE EPILEPSY BASED ON A HUMAN MUTATION IN THE GAMMA2 GABA-A SUBUNIT (2009) (1)
THE MAGNITUDES OF FDG-PET TEMPORAL-LOBE ASYMMETRY DO NOT CORRELATE WITH VOLUMETRIC MRI HIPPOCAMPAL RATIOS IN MESIAL, TEMPORAL SCLEROSIS (1995) (1)
Cerebrospinal fluid neurofilament light improves accurate distinction between neurodegenerative and psychiatric disorders at a cognitive neuropsychiatry service (2022) (1)
0153 Anti-epileptic drug use is associated with a change in body fat distribution with an increased proportion of abdominal fat: A discordant twin-sister DEXA study (2005) (0)
Characterization Of Focal And Generalized Epilepsy Polygenic Burden In 630,603 Individuals (2019) (0)
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome (2022) (0)
A LARGE FAMILY WITH AUTOSOMAL DOMINANT NEUROCARDIOGENIC SYNCOPE (2009) (0)
Epilepsy and mental retardation limited to females (EFMR): Underrecognition of a remarkable phenotype and confirmation of linkage (2004) (0)
IDENTIFYING NOVEL PROGRESSIVE MYOCLONUS EPILEPSY GENES BY EXOME SEQUENCING (2013) (0)
10th Meeting of the Irish Society of Human Genetics, Monday 24th September 2007 (2008) (0)
Epilepsy syndromes: effects on cognition, performance and driving ability. (2001) (0)
102. Epilepsy, AEDs and Balance Function - A Twin and Sibling Study (2009) (0)
Mutations in DEPDC5 : A major cause of familial focal epilepsy (2013) (0)
EPILEPSY-APHASIA SPECTRUM DISORDERS ARE CAUSED BY MUTATIONS IN GRIN2A (2013) (0)
Predominantly nocturnal seizures post temporal lobectomy: Characteristics of an unusual outcome group (2019) (0)
Meeting the needs of people with epilepsy (2007) (0)
A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure. (2022) (0)
452: Chronic anti-epileptic drug treatment is associated with lower balance function scores – a twin and matched sibling AED-discordant pair study (2008) (0)
Brief Communication ILAE Genetics Commission Conference Report: Molecular Analysis of Complex Genetic Epilepsies ILAE Genetics Commission (2002) (0)
Increased cholinergic mediated dopamine release in patients with autosomal dominant nocturnal frontal lobe epilepsy (2007) (0)
Chronic Anti-epileptic Drug (AED) Treatment Is Associated with Inferior Balance Function in AED-Discordant Twin and Matched Sibling Pairs (2007) (0)
Pharmacogenetics in epilepsy: An Australian prospective study (2005) (0)
35. Peripheral nerve excitability testing shows distinctive ion channel dysfunction in patients with KCNQ2 mutations and epilepsy (2010) (0)
Seizures in the early post-operative weeks predict subsequent seizure recurrence (2004) (0)
Representation of digits is not all just hand-waving (2003) (0)
"Alpha1-subunit of the sodium channel, polypeptides thereof, and their use for the treatment of generalized epilepsy with fever seizures plus" (2001) (0)
Headache: spreading from molecules to patients (2010) (0)
IRF2BPL: A new genotype for progressive myoclonus epilepsies. (2023) (0)
Repeat Expansion Disorders Enriched In An Australian And New Zealand Epi25 Year 1 Epilepsy Cohort (2019) (0)
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy. (2023) (0)
EPILEPTOLOGY OF THE FIRST-SEIZURE PRESENTATION. AUTHORS' REPLY (1998) (0)
Clinical features of adult onset neuronal ceroid lipofuscinosis: a long term follow-up of two siblings (2015) (0)
THE NREM AROUSAL PARASOMNIAS AND THEIR DISTINCTION FROM NOCTURNAL SEIZURES: AN ANALYSIS OF ELECTROCLINICAL FEATURES ON VIDEO EEG MONITORING (2009) (0)
The effect of anti-epileptic medications on bone mineral density - a twin and sibling study (2007) (0)
S4-1 Overview on genetics of epilepsy including perspectives in epilepsy research (2002) (0)
HLA-DR2 negative narcolepsy in Australian caucasians: Clinical features, serology and sequence specific oligonucleotide typing (1992) (0)
Risk of sudden unexpected death in epilepsy (SUDEP) with lamotrigine and other sodium channel modulating antiseizure medications. (2023) (0)
Expanding The Clinical Spectrum Of WWOX Encephalopathy (2019) (0)
The use of Spect in Focal Epilepsy (2021) (0)
Key epilepsy gene gets further phenotypic delineation (2010) (0)
NEUROLOGICAL DISORDERS (1969) (0)
Impaired Regulation of Intracellular Chloride Cortical Neurons Lacking KCC2 Expression Show (2015) (0)
ELO01 Phenotypic characterisation of a large family with benign familial neonatal seizures associated with an exon duplication of the KCNQ2 gene (2007) (0)
FAMILIAL TEMPORAL LOBE EPILEPSY: A BENIGN EPILEPSY SYNDROME WITHOUT HIPPOCAMPAL SCLEROSIS, SHOWING COMPLEX INHERITANCE (2009) (0)
ERP variability assessment in normal and epileptic subjects (1993) (0)
MORTALITY AFTER EPILEPSY SURGERY (2009) (0)
Endozepine stupor: disease or deception (2004) (0)
Corrigendum to “Clinical and genetic analysis of a family with two rare reflex epilepsies” [Seizure – Eur. J. Epilepsy 29 (2015) 90–96] (2015) (0)
A new home for the Genetic Literacy series. (2018) (0)
Response to Tinuper et al. (2007) (0)
Severe infantile multi-focal epilepsy: A new sodium channel phenotype (2006) (0)
EPILEPSY SURGICAL GRADING SCALE (ESGS): UTILIZATION IN EPILEPSY SURGERY COHORTS AT TWO CENTRES IN DIFFERENT COUNTRIES (2013) (0)
Reply (2010) (0)
11. Catamenial changes in cortical excitability: Reversal of normal patterns in new onset epilepsy (2010) (0)
Reply (2002) (0)
Recognition and Epileptology of Protracted CLN3 Disease. (2023) (0)
Reply (2005) (0)
Mapping human D1 receptor density with PET and [11C]SCH23390 (1999) (0)
AN EXPLORATORY QUALITATIVE ANALYSIS OF THE PSYCHOLOGICAL PROCESSES UNDERLYING NON-EPILEPTIC SEIZURES (2013) (0)
レニン分泌顆粒における膜内外リソソームタンパク質SCARB2/Limp-2の発現はレニン遊離を制御する (2012) (0)
Distinctive patterns of increased cortical excitability among the epilepsy syndromes (2008) (0)
VACCINE ENCEPHALOPATHIES AND DRAVET SYNDROME: PRELIMINARY DATA FROM THE VACENC STUDY (2009) (0)
EXPLORING THE ROLE OF GATOR1 COMPLEX GENES IN FOCAL EPILEPSIES AND THEIR ASSOCIATED PHENOTYPES (2016) (0)
Influence of chronic levetiracetam intake on cortical excitability (2008) (0)
Plasma neurofilament light in behavioural variant frontotemporal dementia compared to mood and psychotic disorders (2023) (0)
Contributor’s List (2022) (0)
24 – Genetic Epilepsies (2007) (0)
O-18-258 Surgical resection of extratemporal cortex for epilepsy associated with focal cortical dysplasia, identified by MRI, PET and ictal SPECT (1997) (0)
SINGLE PHOTON EMISSION COMPUTED TOMOGRAPHY-EEG RELATIONS IN TEMPORAL LOBE EPILEPSY. AUTHORS' REPLY (1998) (0)
NOCTURNAL SEIZURES ONLY POST TEMPORAL LOBECTOMY: CHARACTERISTICS OF AN UNUSUAL OUTCOME GROUP (2013) (0)
PRELIMINARY OBSERVATIONS ON AN AMBULATORY INTRACRANIAL EEG (IEEG) EPILEPSY MANAGEMENT SYSTEM (2011) (0)
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2 (2016) (0)
Electroclinical Features of the Psychomotor Seizure, 1983. By Heinz Gregor Wieser. Published by Gustav Fischer / Butterworths, Stuttgart / New York. 242 pages. (1985) (0)
Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies (2019) (0)
Clinical utility, safety and tolerability of transcranial magnetic stimulation in the first seizure clinic (2017) (0)
Reply: Genetic influence on rolandic epilepsy (2005) (0)
Prospective study of recent-onset temporal lobe epilepsy in childhood (1994) (0)
Towards identification of an epilepsy gene in a large family with idiopathic generalized epilepsy (1994) (0)
Individual fixel-based white matter abnormalities in the epilepsies (2023) (0)
Progressive Myoclonus Epilepsy Caused by SACS Mutations (P5.158) (2016) (0)
Mutations in Depdc5 Are a Major Cause of Lesional and Non-Lesional Focal Epilepsy (2014) (0)
Vaccination and Dravet syndrome Reply (2010) (0)
PL06-WE-01 Epilepsy genetics: from basic science to clinical practice (Singhal Oration) (2009) (0)
II D1 EEG in adult-onset idiopathic generalized epilepsy (2002) (0)
REPLY (2000) (0)
Benign familial neonatal-infantile seizures: The mutational and phenotypic spectrum (2007) (0)
Plasma neurofilament light chain and phosphorylated tau 181 in neurodegenerative and psychiatric disorders: moving closer towards a simple diagnostic test like a 'C‐reactive protein' for the brain? (2021) (0)
Indexes to Volume 4 (1994) (0)
IDENTIFICATION OF A NOVEL GENE IN A FAMILY WITH SEVERE INFANTILE-ONSET EPILEPSY (2012) (0)
Phenotype–genotype complexities: opening DOORS (2014) (0)
Magnetic Resonance Imaging of Hippocampal Sclerosis (1994) (0)
Psychological impact of a newly-diagnosed seizure: Relationship to cognitive complaints and attentional processing (2007) (0)
A Twin Study of Genetic Influences on Epilepsy Outcome (2003) (0)
Cerebrospinal fluid neurofilament light chain differentiates behavioural variant frontotemporal dementia progressors from non-progressors (2022) (0)
Sleep Neurology - A Wakeup Call for Neurologists (2002) (0)
S1-2 Molecular genetics of epilepsies : Impact on clinical care and understanding neurobiology(The 40th Congress of the Japan Epilepsy Society) (2006) (0)
Seizure outcome after extra-temporal epilepsy surgery (2006) (0)
7. Clinical and EEG features of action myoclonus–renal failure syndrome (2013) (0)
Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy (2022) (0)
449: Multidrug resistant (MDR1) genotype & seizure recurrence in newly treated epilepsy: Data from international prospective AED pharmacogenetic studies (2008) (0)
Pre and post-ictal changes in cortical excitability in epilepsy demonstrated by transcranial magnetic stimulation (2008) (0)
Question-and-Answer Session (2009) (0)
GENETICS | Clinical Genetics of Epilepsy (2009) (0)
The Relevance of Rare Genetic Variation of MicroRNAs, Their Biosynthesis Genes and Target Regions in Epilepsy (2018) (0)
Poppy tea and the baker' first seizure (1997) (0)
Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data (2017) (0)
Epilepsy with Early Ataxia (2015) (0)
UNC13B and focal epilepsy. (2022) (0)
Biallelic and de novo variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy (2021) (0)
GENETIC MAPPING IN SPORADIC EPILEPSY (2009) (0)
Generics - Equal or not? [1] (multiple letters) (2003) (0)
Reply from the authors [2] (2007) (0)
Phenotyping the progressive gait deterioration in Dravet syndrome (2007) (0)
627: Diagnosing bumps in the night: Distinguishing parasomnias from NFLE using video EEG monitoring (2007) (0)
Vaccination and Dravet syndrome – Authors' reply (2010) (0)
PARAHIPPOCAMPAL EPILEPSY: RECOGNIZING THE CLINICAL AND IMAGING CLUES (2008) (0)
PO18-WE-15 Diagnosis of epilepsy after the first seizure: a role for transcranial magnetic stimulation? (2009) (0)
Impairment of cholinergic-mediated growth hormone and prolactin release in autosomal dominant nocturnal frontal lobe epilepsy (2007) (0)
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants (2021) (0)
The Epilepsy Genetics Initiative: a final summary (2021) (0)
Cerebrospinal fluid neurofilament light predicts longitudinal diagnostic change in patients with psychiatric and neurodegenerative disorders. (2023) (0)
Recent molecular insights into the human idiopathic epilepsies (0)
Neurofilament light chain in psychiatric and neurodegenerative disorders: A ‘c‐reactive protein’ for the brain? (2020) (0)
Cerebrospinal fluid neurofilament light chain differentiates behavioural variant frontotemporal dementia progressors from ‘phenocopy’ non‐progressors (2022) (0)
Mosaic variants detectable in blood extend the clinico-genetic spectrum of GLI3-related Hypothalamic Hamartoma (2023) (0)
Late-onset seizures and dementia in MELAS syndrome (1992) (0)
Estimates of seizure freedom after epilepsy surgery vary: An investigation of one potential contributing factor (2007) (0)
Anatomo-electro-clinical correlations with video sequences Multifocal epilepsy : the role of palliative resection-intractable frontal and occipital lobe epilepsy secondary to radiotherapy for acute lymphoblastic leukaemia (2008) (0)
Bone Health and Age of Commencement of Anti-epileptic Medication: An AED-Discordant Twin and Sibling Pair Study (2009) (0)
Comorbidities in newly diagnosed epilepsy: Pre-existing health conditions are common and complex across age groups (2022) (0)
P3.1 Clinical and neurophysiological features of progressive myoclonus epilepsy associated with SCARB2 mutations without renal failure (2011) (0)
Childhood Absence Epilepsy As a Manifestation of GLUT1 Deficiency Reply (2010) (0)
CHD2 mutations produce an early childhood encephalopathy with prominent photosensitive seizures (2014) (0)
Mysteries of epilepsy (2003) (0)
Pre and post-ictal changes in cortical excitability shown by transcranial magnetic stimulation (2007) (0)
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder. (2022) (0)
646: Chronic anti-epileptic drug treatment is associated with clinically-significant impairment in balance function – a twin and matched sibling pair pilot study (2007) (0)
Reply from the Authors (1996) (0)
Methodes de diagnostic et de traitement de l'epilepsie (2004) (0)
Treatment of an unprovoked tonic-clonic seizure (2001) (0)
A Primate-Specific Isoform of PLEKHG 6 Regulates Neurogenesis and Neuronal Migration Graphical (2018) (0)
Cholinergic-mediated growth hormone and prolactin release is impaired in autosomal dominant nocturnal frontal lobe epilepsy (2006) (0)
SYNGAP1 Developmental and Epileptic Encephalopathy: Delineating the Phenotypic Spectrum (2018) (0)
Electrophysiological investigation of a GABA(A) receptor subunit mutation found in humans with epilepsy (2001) (0)
Absence status. Reply (1990) (0)
Contents page + Editorial Board (2006) (0)
P1027: Neurophysiological findings in patients with ceroid lipofuscinosis due to CLN6 mutations (2014) (0)
Contents Vol. 122, 2012 (2013) (0)
Generalised epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B and evidence for a founder effect. (2000) (0)
Epilepsy genetics in Israeli and Palestinian Arabs (2005) (0)
Action to improve awareness, participation, care and support for people with epilepsy (2011) (0)
History of FAME/BAFME around the world. (2023) (0)
Invited comments on the Shostak and Ottman review. (2006) (0)
009 Axonal excitability properties in dravet’s syndrome reflect effect of loss of sodium channels (2019) (0)
Intranasal anticonvulsive treatment in rural settings of developing countries (2006) (0)
Mutations in DEPDC5 (2013) (0)
Role of spontaneous mutations of neuronal nicotinic acetylcholine receptors in ADNFLE (2004) (0)
Neurological disorders (2000) (0)
Concurrent Free Paper Sessions 2 (2008) (0)
Positron emission tomography ii. neurology (1995) (0)
Familial Adult Myoclonic Epilepsy, Caused By A Pentanucleotide Repeat TTTCA Insertion In SAMD12, In Indian And Sri Lankan Families Extends The Occurrence Of This Mutation To A Wide Region Of Southern Asia (2019) (0)
Methods for diagnosis and treatment of epilepsy (2004) (0)
Comment (2006) (0)
Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries (2023) (0)
Frederick Andermann, MD, FRCPC (1930–2019) (2019) (0)

This paper list is powered by the following services:

Other Resources About Samuel Berkovic

en.wikipedia.org

What Schools Are Affiliated With Samuel Berkovic?

Samuel Berkovic is affiliated with the following schools:

Samuel Berkovic's Academic­Influence.com Rankings

Samuel Berkovic's Degrees

Why Is Samuel Berkovic Influential?

Samuel Berkovic's Published Works

Published Works

Other Resources About Samuel Berkovic

What Schools Are Affiliated With Samuel Berkovic?

Samuel Berkovic's AcademicInfluence.com Rankings