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PROF Sam BERKOVIC

Positions

Academic, Medicine - Austin Health
Honorary, Florey Department of Neuroscience and Mental Health

Epilepsy (Seizures, ion channels)
Sleep disorders (Narcolepsy, Parasomnias)
Neurogenetics (Linkage analysis, ion channels)

Overview

Has subject area

For 2008 6 Digit Code
- Central Nervous System
- Neurogenetics
Seo 2008 6 Digit Code
- Nervous System and Disorders

Affiliation

Member of

American Neurological Association. Corresponding Member 2004 -
American Epilepsy Society. Corresponding Member 1994 -
American Academy of Neurology. Associate Clinical Member 1990 -
Epilepsy Society of Australia. Full Member 1988 -
Australian Association of Neurologists. Full Member 1981 -

Publications

Selected publications

2012
- Journal Articles Refereed
  - PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome. American Journal of Human Genetics. 90:152-160. 2012
  - PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.. Neurology. 79:2104-2108. 2012
  - Sodium channels and the neurobiology of epilepsy
    . Epilepsia. 53:1849-1859. 2012
  - Benign Neonatal Sleep Myoclonus: An Autosomal Dominant Form Not Allelic to KCNQ2 or KCNQ3. Journal of Child Neurology. 27:1260-1263. 2012
  - Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes. Epilepsia. 53:319-324. 2012
  - Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency. Epilepsia. 53:e204-e207. 2012
  - Epi4K: Gene discovery in 4,000 genomes. Epilepsia. 53:1457-1467. 2012
  - Evidence for genetic factors in vasovagal syncope: a twin-family study.. Neurology. 79:561-565. 2012
  - Familial Adult Myoclonic Epilepsy: Recognition of mild phenotypes and refinement of the 2q locus. Archives of Neurology. 69:474-481. 2012
  - Familial focal epilepsy with variable foci mapped to chromosome 22q12: Expansion of the phenotypic spectrum.. Epilepsia. 53:e151-e155. 2012
  - Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations.. Epilepsy Research. 100:194-198. 2012
  - Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Human Molecular Genetics. 21:5359-5372. 2012
  - Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. Annals of Neurology. 72:807-815. 2012
  - Growing pains: Twin family study evidence for genetic susceptibility and a genetic relationship with restless legs syndrome. EUROPEAN JOURNAL OF PAIN. 16:1224-1231. 2012
  - In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission. Brain. 135:3144-3152. 2012
  - Inter-session repeatability of cortical excitability measurements in patients with epilepsy. Epilepsy Research. 98:182-186. 2012
  - KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy. Annals of Neurology. 71:15-25. 2012
  - Long-term follow-up of febrile infection-related epilepsy syndrome. Epilepsia. 53:101-110. 2012
  - Long-term seizure outcome and risk factors for recurrence after extra-temporal epilepsy surgery. Epilepsia. 53:947-961. 2012
  - Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nature Genetics. 44:1188-1190. 2012
  - Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. Neurology. 79:1244-1251. 2012
  - Progressive Gait Deterioration in Adolescents with Dravet Syndrome. Archives of Neurology. 69:873-878. 2012
  - Psychological trajectories in the year after a newly diagnosed seizure.. Epilepsia. 53:1774-1781. 2012
  - Rare protein sequence variation in SV2A gene does not affect response to levetiracetam. Epilepsy Research. 101:277-279. 2012
  - Significance of post-operative auras after temporal lobectomy: a surprising methodological trap. Epilepsy and Behavior. 23:348-352. 2012
  - Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. American Journal of Human Genetics. 90:1102-1107. 2012
  - The frontal lobe in absence epilepsy: EEG-fMRI findings.. Neurology. 78:1157-1165. 2012
- Other Refereed Contribution to Refereed Journals
  - A Case of Severe Hearing Loss in Action Myoclonus Renal Failure Syndrome Resulting From Mutation in SCARB2. Movement Disorders. 27:1195-1197. 2012
2011
- Journal Articles Refereed
  - A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia. American Journal of Human Genetics. 88:657-663. 2011
  - A retrospective population-based study on seizures related to childhood vaccination. Epilepsia. 52:1506-1512. 2011
  - Benign mesial temporal lobe epilepsy. Nature Reviews Neurology. 7:237-240. 2011
  - Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations. Epilepsia. 52:2356-2363. 2011
  - De novo SCN1A mutations in migrating partial seizures of infancy. Neurology. 77:380-383. 2011
  - Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy. Archives of Neurology. 68:1152-1155. 2011
  - Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes. Epilepsia. 10:E139-E142. 2011
  - Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6. American Journal of Human Genetics. 88:566-573. 2011
  - Low blood glucose precipitates spike-and-wave activity in genetically predisposed animals. Epilepsia. 52:115-120. 2011
  - Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients. Journal of Medical Genetics. 48:1-9. 2011
  - Rare copy number variants are an important cause of epileptic encephalopathies. Annals of Neurology. 70:974-985. 2011
  - Tubular proteinuria in mice and humans lacking the intrinsic lysosomal protein SCARB2/Limp-2. American Journal of Physiology: Renal Physiology. 300:F1437-F1447. 2011
- Other Refereed Contribution to Refereed Journals
  - Mutation of SCARB2 in a Patient With Progressive Myoclonus Epilepsy and Demyelinating Peripheral Neuropathy. Archives of Neurology. 68:812-813. 2011
2010
- Journal Articles Refereed
  - De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. Journal of Medical Genetics. 47:137-141. 2010
  - A duplication in 1q21.3 in a family with early-onset and childhood absence epilepsy. Epilepsia. 51:2453-2456. 2010
  - Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. Neurology. 75:432-440. 2010
  - Augmented currents of an HCN2 variant in pateints with Febile Seizure Syndromes. Annals of Neurology. 67:542-546. 2010
  - Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus. Journal of Clinical Investigation. 120:2661-2671. 2010
  - Axon initial segment dysfunction in epilepsy. Journal of Physiology. 588:1829-1840. 2010
  - Balance impairment in chronic antiepileptic drug users: A twin and sibling study. Epilepsia. 51:280-288. 2010
  - Can changes in cortical excitability distinguish progressive from juvenile myoclonic epilepsy?. Epilepsia. 51:2084-2088. 2010
  - Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain. 133:1415-1427. 2010
  - Clinical features of seizures associated with parahippocampal/inferior temporal lesions compared to those with hippocampal sclerosis. Epilepsia. 51:1906-1909. 2010
  - Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. Neurology. 75:1159-1165. 2010
  - Detection of microchromosomal aberrations in refractory epilepsy: a pilot study. Epileptic Disorders. 12:192-198. 2010
  - Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study.. Lancet Neurology. 9:592-598. 2010
  - Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. Journal of Medical Genetics. 47:211-216. 2010
  - Familial Lennox-Gastaut syndrome in male siblings with a novel DCX mutation and anterior pachygyria. Epilepsia. 51:1902-1905. 2010
  - Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance. Brain. 133:3221-3231. 2010
  - Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3. Epilepsia. 51:1865-1869. 2010
  - Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency. Epilepsia. 51:2466-2469. 2010
  - Neonatal seizures and long QT Syndrome: A cardiocerebral channelopathy?. Epilepsia. 51:293-296. 2010
  - Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy. Epilepsy and Behavior. 17:531-535. 2010
  - Predicting seizure control: cortical excitability and antiepileptic medication%. Annals of Neurology. 67:64-73. 2010
  - Profiles of psychosocial outcome after epilepsy surgery: The role of personality.. Epilepsia. 51:1133-1138. 2010
  - Reduced variance in monozygous twins for multiple MR parameters: Implications for disease studies and the genetic basis of brain structure. Neuroimage. 49:1536-1544. 2010
  - Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia. 54:676-685. 2010
  - Small temporal pole encephaloceles: A treatable cause of "lesion negative" temporal lobe epilepsy. Epilepsia. 51:2199-2202. 2010
  - The Epilepsy Genetic Association Database (epiGAD): Analysis of 165 genetic asociation studies, 1996-2008. Epilepsia. 51:686-689. 2010
  - The core network in absence epilepsy Differences in cortical and thalamic BOLD response. Neurology. 75:904-911. 2010
  - Timing of De Novo Mutagenesis - A Twin Study of Sodium-Channel Mutations. New England Journal of Medicine. 363:1335-1340. 2010
  - Whole-genome linkage scan for epilepsy-related photosensitivity: A mega-analysis. Epilepsy Research. 89:286-294. 2010
- Journal Articles Unrefereed
  - A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. American Journal of Human Genetics. 87:371-375. 2010
- Other Refereed Contribution to Refereed Journals
  - Copy number variants-an unexpected risk factor for the idiopathic generalized epilepsies. Brain. 133:7-8. 2010
  - Epilepsy: insights into causes and treatment dilemmas. Neurology. 9:9-11. 2010
  - Key epilepsy gene gets further phenotypic delineation. Neurology. 75:18-19. 2010
  - New therapeutic opportunities in epilepsy: A genetic perspective. Pharmacology and Therapeutics. 128:274-280. 2010
2009
- Journal Articles Refereed
  - SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. Annals of Neurology. 66:532-536. 2009
  - A neurologist's guide to genome-wide association studies. Neurology. 72:558-565. 2009
  - Cognitive complaints after a frist seizure in adulthood: Influence of psychological adjustment. Epilepsia. 50:1012-1021. 2009
  - Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Annals of Neurology. 66:415-419. 2009
  - Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Human Molecular Genetics. 18:3626-3631. 2009
  - Multidrug-resistant genotype (ABCB1) and seizure recurrence in newly treated epilepsy: Data from International Pharmacogenetic Cohorts. Epilepsia. 50:1689-1696. 2009
  - NREM Arousal Parasomnias and their distinction from nocturnal frontal lobe epilepsy: a video EEG analysis. Sleep. 32:1637-1644. 2009
  - Parahippocampal epilepsy with subtle dysplasia: A cause of "imaging negative" partial epilepsy. Epilepsia. 50:2611-2618. 2009
  - Personality development in the context of intractable epilepsy. Archives of Neurology. 66:68-72. 2009
  - Prediction by modeling that epilepsy may be caused by very small functional changes in ion channels. Archives of Neurology. 66:1225-1231. 2009
  - SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis. Epilepsia. 50:1670-1678. 2009
  - The borderland of epilepsy: clinical and molecular features of phenomena that mimic epileptic seizure. The Lancet. 8:370-381. 2009
  - The management of epilepsy in pregnancy.. BJOG. 116:758-767. 2009
  - The peri-ictal state: cortical excitability changes within 24h of a seizure. Brain. 132:1013-1021. 2009
  - The role of neuronal GABA_A receptor subunit mutations in idiopathic generalized epilepsies. Neuroscience Letters. 453:162-165. 2009
  - Why do seizures in generalized epilepsy often occur in the morning?. Neurology. 73:218-222. 2009
- Other Refereed Contribution to Refereed Journals
  - Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?. Epilepsia. 50:953-956. 2009
  - Lack of replication of association between SCN1A SNP and febrile seizures. Neurology. 73:1928-1930. 2009
  - Mechanisms of human inherited epilepsies. Progress in Neurobiology. 87:41-57. 2009
2008
- Journal Articles Refereed
  - A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. American Journal of Human Genetics. 83:572-581. 2008
  - Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. American Journal of Human Genetics. 82:673-684. 2008
  - Association of a Nicotinic Receptor Mutation with Reduced Height and Blunted Physostigmine-Stimulated Growth Hormone Release. Journal of Clinical Endocrinology & Metabolism. 93:634-637. 2008
  - Benign occipital epilepsies of childhood: clinical features and genetics. Brain. 131:2287-2294. 2008
  - Developmental Impact of a Famial GABA A Receptor Epilepsy Mutation. Annals of Neurology. 64:284-293. 2008
  - Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain. 131:918-927. 2008
  - Gene expression analysis in absence epilepsy using a monozygotic twin design. Epilepsia. 49:1546-1554. 2008
  - Human Nocturnal Frontal Lobe Epilepsy: Pharmocogenomic Profiles of Pathogenic Nicotinic Acetylcholine Receptor B-Subunit Mutations outside the Ion Channel Pore. Molecular Pharmacology. 74:379-391. 2008
  - Intracortical hyperexcitability inhumans with GABA_A receptor mutation. Cerebral Cortex. 18:664-669. 2008
  - Navigating the channels and beyond: unravelling the genetics of the epilepsies. The Lancet Neurology. 7:231-245. 2008
  - Obstetric events as a risk factor for febrile seizures: A community-based twin study. Twin Research and Human Genetics. 11:634-640. 2008
  - Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain. 131:1831-1844. 2008
  - Reduced striatal D₁ receptor binding in autosomal dominant noctural frontal lobe epilepsy. Neurology. 71:795-798. 2008
  - Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability. Epilepsia. 49:2125-2129. 2008
  - Somatic mutations in GLI3 can cause hypothalamic hamartoma and gelastic seizures.. Neurology. 70:653-655. 2008
  - X-linked protocadherin 19 mutations cause femalelimited epilepsy and cognitive impairment. Nature Genetics. 40:776-781. 2008
- Journal Articles Unrefereed
  - GENETICS The Human Variome Project. Science. 322:861-862. 2008
  - Multifocal epilepsy: the role of palliative resection - intractable frontal and occipital lobe epilepsy secondary to radiotherapy for acute lymphoblastic leukaemia. Epileptic Disorders. 10:362-370. 2008
2007
- Book Chapters
  - Generalized (genetic) epilepsy with febrile seizures plus
    . Epilepsy: A comprehensive textbook. Lippincott Williams & Wilkins. 2525-2535. 2007
- Research Book Chapters
  - Genetic Epilepsies. Molecular Neurology. Elsevier Science. 371-383. 2007
- Journal Articles Refereed
  - NEDD4-2 as a potential candidate susceptibility gene for epileptic photosensitivity. Genes, Brain and Behavior. 6:750-755. 2007
  - A Multicenter Study of BRD2 as a Risk Factor for Juvenile Myoclonic Epilepsy. Epilepsia. 48:706-712. 2007
  - A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel. Molecular and Cellular Neurosciences. 35:292-301. 2007
  - Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy. Epilepsy Research. 76:41-48. 2007
  - Adjunctive therapy of uncontrolled partial seizures with levetiracetam in Australian patients. Epilepsy and Behavior. 11:338-342. 2007
  - Association studies and functional validation or functional validation alone?. Epilepsy Research. 74:237-238. 2007
  - Changes in cortical excitability differentiate generalized and focal epilepsy. Annals of Neurology. 61:324-331. 2007
  - Channelopathies in Idiopathic Epilepsy. Neurotherapeutics. 4:295-304. 2007
  - Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures. Journal of Medical Genetics. 44:791-796. 2007
  - Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants. Annals of Neurology. 62:560-568. 2007
  - Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation. Epilepsia. 48:1011-1014. 2007
  - GEFS⁺ where focal seizures evolve from generalized spike wave: video-EEG study of two children. Epileptic Disorders. 9:307-314. 2007
  - Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function. Neuroscience. 148:164-174. 2007
  - Hippocampal Sclerosis: MR Prediction of Seizure Intractability. Epilepsia. 48:315-323. 2007
  - Impaired verbal associative learning after resection of left perirhinal cortex. Brain. April:1423-1431. 2007
  - Is Photosensitive Epilepsy Less Common in Males Due to Variation in X Chromosome Photopigment Genes?. Epilepsia. 48:1807-1809. 2007
  - Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. The Lancet Neurology. 6:970-980. 2007
  - Nicotine-Induced Dystonic Arousal Complex in a Mouse Line Harboring a Human Autosomal-Dominant Nocturnal Frontal Lobe Epilepsy Mutation. Neuroscience. 27:10128-10142. 2007
  - Placebo-controlled study of levetiracetam in idiopathic generalized epilepsy. Neurology. 69:1751-1760. 2007
  - Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy. Proceedings of the National Academy of Sciences of the United States of America. 104:17536-17541. 2007
  - Replicated effects of sex and genotype on gene expression in human lymphoblastoid cell lines. Human Molecular Genetics. 16:364-373. 2007
  - SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum. Epilepsia. 48:1138-1142. 2007
  - Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. Brain. 130:100-109. 2007
  - The psychological impact of a newly diagnosed seizure: Losing and restoring perceived control. Epilepsy and Behavior. 10:223-233. 2007
  - The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain. 130:843-852. 2007
- Other Refereed Contribution to Refereed Journals
  - Vaccination, seizures and 'vaccine damage'. Current Opinion in Neurology. 20:181-187. 2007
2006
- Research Book Chapters
  - Genetics of Epilepsy: Principles and practice. Pediatric Neurology: Principles & Practice. Mosby International. 1009-1017. 2006
- Journal Articles Refereed
  - SRPX2 mutations in disorders of language cortex and cognition. Human Molecular Genetics. 15:1195-1207. 2006
  - A GABA_A receptor mutation causing generalized eilepsy reduces benzodiazepine receptor binding. Neuroimage. 32:995-1000. 2006
  - Action myoclonus-renal failure syndrome: a cause for worsening tremor in young adults. Neurology. 67:1310-1311. 2006
  - Analyzing the etiology of Benign rolandic epilepsy: A multicenter twin collaboration. Epilepsia. 47:550-555. 2006
  - De-novo mutations of the sodium channel gene SCN1 A in alleged vaccine encephalopathy: a retrospective study. The Lancet Neurology. 5:488-492. 2006
  - Distinguishing Sleep Disorders From Seizures. Archives of Neurology. 63:705-709. 2006
  - Exploration of the Genetic Architecture of Idiopathic Generalized Epilepsies. Epilepsia. 47:1682-1690. 2006
  - Human epilepsies: interaction of genetic and acquired factors. Trends in Neurosciences. 29:391-397. 2006
  - Increased serotonin receptor availability in human sleep: Evidence from an ¹⁸ FMPPF PET study in narcolepsy. Neuroimage. 30:341-348. 2006
  - New-onset temporal lobe epilepsy in children: Lesion on MRI predicts poor seizure outcome. Neurology. 67:2147-2153. 2006
  - Paroxysmal Motor Disorders of Sleep: The Clinical Spectrum and Differentiation from Epilepsy. Epilepsia. 47:1775-1791. 2006
  - Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults. Neurology. 67:2224-2226. 2006
  - Sleep deprivation increases cortical excitability in epilepsy. Syndrome specific effects.. Neurology. 67:1018-1022. 2006
  - What happens now? Ongoing outcome after post-temporal lobectomy seizure recurrence. Neurology. 67:1671-1673. 2006
- Journal Articles Unrefereed Letters or Notes
  - Are epilepsy classifications based on epileptic syndromes and seizure types outdated?. Epileptic Disorders. 8:159-160. 2006
  - Invited comments on the Shostak and Ottman review. Genetic research on the epilepsies.. Epilepsia. 47:1751-1752. 2006
  - Prediction of drug resistance in epilepsy: not as easy as ABC. Neurology. 5:641-642. 2006
- Other Refereed Contribution to Refereed Journals
  - A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A. Neurology. 67:1094-1095. 2006
  - Febrile seizures: traffic slows in the heat. Trends in Molecular Medicine. 12:343-344. 2006
  - Update on pharmacogenetics in epilepsy: a brief review.. The Lancet Neurology. 5:189-196. 2006
2005
- Book Chapters Other
  - Introduction to Epilepsy. Magnetic Resonance in Epilepsy. Academic Press - Elsevier Science. 1-16. 2005
- Journal Articles Refereed
  - A new autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures. Neurology. 64:142-144. 2005
  - A new clinical and molecular form of Uverricht-Lundborg disease localized by homozygosity mapping. Brain. 128:652-658. 2005
  - Assessment of the role of FDG PET in the diagnosis and management of children with refractory epilepsy. European Journal of Nuclear Medicine and Molecular Imaging. 32:1311-1316. 2005
  - Early seizures after temporal lobectomy predict subsequent seizure recurrence. Annals of Neurology. 57:283-288. 2005
  - Effect of antiepileptic medication on bone mineral measures. Neurology. 65:1358-1363. 2005
  - Efficacy and safety of levetiracetam 1000-3000 mg/day in patients with refractory partial-onset seizures: a multicenter, open-label single-arm study. Epilepsy Research. 63:1-9. 2005
  - Familial clustering of seizure types within the idiopathic generalized epilepsies. Neurology. 65:523-528. 2005
  - Is variation in the GABA(B) Receptor 1 Gene Associated with Temporal Lobe Epilepsy?. Epilepsia. 46:778-780. 2005
  - Mutation in the Na⁺ channel subunit SCN I B produces paradoxical changes in peripheral nerve excitability. Brain. 128:1841-1846. 2005
  - SCN1A Mutations and Epilepsy. Human Mutation. 25:535-542. 2005
- Journal Articles Unrefereed Letters or Notes
  - Reply: Genetic influence on rolandic epilepsy. Annals of Neurology. 57:465-465. 2005
- Other Refereed Contribution to Refereed Journals
  - Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+). Epilepsia. 46:41-47. 2005
  - Susceptibility genes for complex epilepsy. Human Molecular Genetics. 14:R243-R249. 2005
  - Tramadol and new-onset seizures. Medical Journal of Australia. 182:42-43. 2005
  - Treatment of new-onset epilepsy: seizures beget discussion. The Lancet. 365:1985-1986. 2005
  - Treatment with anti-epileptic drugs. Australian Family Physician. 34:1017-1020. 2005
2004
- Journal Articles Refereed
  - Action myoclonus--renal failure syndrome: characterization of a unique cerebro-renal disorder. Brain. 127:2173-2182. 2004
  - Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathy. Annals of Neurology. 55:550-557. 2004
  - Endozepine stupor: disease or deception? A critical review. Sleep. 27:1597-1599. 2004
  - Epilepsy in twins - Insights from unique historical data of William Lennox. Neurology. 62:1127-1133. 2004
  - Failure to confrim association of a polymorphism in ABCB1 with multidrug-resistant epilepsy. Neurology. 63:1090-1092. 2004
  - Familial partial epilepsy with variable foci: Clinical features and linkage to chromosome 22q12. Epilepsia. 45:1054-1060. 2004
  - GABRD encoding a protein for extra- or peri-synaptic GABA (A) receptors is a susceptibility locus for generalized epilepsies. Human Molecular Genetics. 13:1315-1319. 2004
  - Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families. Epilepsia. 45:467-478. 2004
  - Genetic association studies in epilepsy: "The truth is out there". Epilepsia. 45:1429-1442. 2004
  - Glioneuronal tumours in neurofibromatosis type 1: mRI-pathological study. Journal of Clinical Neuroscience. 11:745-747. 2004
  - Is benign rolandic epilepsy genetically determined?. Annals of Neurology. 56:129-132. 2004
  - Juvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: is there overlap?. Brain. 127:1878-1886. 2004
  - LGI1 mutations in temporal lobe epilepsies. Neurology. 62:1115-1119. 2004
  - MR imaging and spectroscopic study of epileptogenic hypothalamic hamartomas: analysis of 72 cases. American Journal of Neuroradiology. 25:450-462. 2004
  - Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction. Journal of Medical Genetics. 41. 2004
  - Subtle microscopic abnormalities in hippocampal sclerosis do not predict clinical features of temporal lobe epilepsy. Epilepsia. 45:940-947. 2004
  - Temporal lobe dysembryoplastic neuroepithelial tumour: significance of discordant interictal spikes. Epileptic Disorders. 6:107-114. 2004
  - Temporal lobectomy: Long-term seizure outcome, late recurrence and risks for seizure recurrence. Brain. 127:2018-2030. 2004
- Journal Articles Unrefereed Letters or Notes
  - The idiopathic generalized epilepsies across life. Clinical Neurophysiology Supplement. 57:408-414. 2004
- Other Refereed Contribution to Refereed Journals
  - Febrile convulsions and genetic susceptibility: role of the neuronal nicotinic acetylcholine receptor α4 subunit . Epilepsia. 45:561-561. 2004
  - Genetic variation of CACNA1H in idiopathic generalized epilepsy. Annals of Neurology. 55:595-596. 2004
  - Idiopathic recurrent stupor: a warning. Journal of Neurology, Neurosurgery and Psychiatry. 75:368-369. 2004
  - Sandifer syndrome misdiagnosed as refractory partial seizures in an adult. Epileptic Disorders. 6:49-50. 2004
2003
- Journal Articles Refereed
  - A twin study of genetic influences on Epilepsy outcome. Twin Research. 6:140-146. 2003
  - Autosomal recessive form of periventricular heterotopia. Neurology. 60:1108-1112. 2003
  - Childhood absence epilepsy and febrile seizures: a family with a GABA_A receptor. Brain. 126:230-240. 2003
  - EEG in adult-onset idiopathic generalized epilepsy.. Epilepsia. 44:252-256. 2003
  - Electroencephalographic characterisation of pentylenetetrazole-induced seizures in mice lacking the α4 subunit of the neuronal nicotinic receptor. Neuropharmacology. 44:234-243. 2003
  - Epilepsy in offspring of whom both parents have idiopathic generalized epilepsy: Biparental inheritance.. Epilepsia. 44:1250-1254. 2003
  - Generalized epilepsy in hypothalamic hamartoma - Evolution and postoperative resolution.. Neurology. 60:762-767. 2003
  - Hippocampal atrophy and T2-weighted signal changes in familial mesial temporal lobe epilepsy. Neurology. 60:405-409. 2003
  - Hypertensive encephalopathy: Antecedent to hippocampal sclerosis and temporal lobe epilepsy? . Neurology. 60:1534-1536. 2003
  - Hypothalamic hamartoma and seizures: A treatable epileptic encephalopathy.. Epilepsia. 44:969-973. 2003
  - Idiopathic generalised epilepsy of adult onset: clinical syndromes and genetics. Journal of Neurology, Neurosurgery and Psychiatry. 74:192-196. 2003
  - Occipital epilepsies: identification of specific and newly recognized syndromes. Brain. 126:753-769. 2003
  - Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia. 44:613-617. 2003
  - Risk factors for sudden unexpected death in epilepsy: a controlled prospective study based on coroners cases. Seizure - European Journal of Epilepsy. 12:456-464. 2003
  - Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology. 61:765-769. 2003
  - The genetics of human epilepsy. Trends in Pharmacological Sciences. 24:428-433. 2003
  - Transcallosal resection of hypothalamic hamartomas in patients with intractable epilepsy. Epileptic Disorders. 5:257-265. 2003
- Journal Articles Unrefereed Letters or Notes
  - Genetics of temporal lobe epilepsy. Journal of Neurology, Neurosurgery and Psychiatry. 74:1359-1361. 2003
  - Hypothalamic hamartoma and epilepsy: the pathway of discovery. Epileptic Disorders. 5:173-175. 2003
- Other Refereed Contribution to Refereed Journals
  - Channelopathies as a genetic cause of epilepsy. Current Opinion in Neurology. 16:171-176. 2003
  - Hypertensive encephalopathy: Antecedent to hippocampal sclerosis and temporal lobe epilepsy? Reply. Neurology. 61:1631-1631. 2003
2002
- Book Chapters Other
  - Medial and lateral contributions to verbal memory: Evidence from temporal lobe epilepsy. Frontiers of Human Memory. Tohoku University Press. 151-158. 2002
- Journal Articles Refereed
  - Altered kinetics and benzodiazepine sensitivity of a GABA-a receptor subunit mutation akpha-2 (R43Q) found in human epilepsy. Proceedings of the National Academy of Sciences of the United States of America. 99:15170-15175. 2002
  - Chromosomal abnormalities and epilepsy: A review for clinicians and gene hunters. Epilepsia. 43:127-140. 2002
  - Direct and indirect measures of verbal relational memory following anterior temporal lobectomy. Neuropsychologia. 40:302-316. 2002
  - Exercise-induced temporal lobe epilepsy. Neurology. 59:1246-1248. 2002
  - Gabapentin versus Lamotrigine Monotherapy: A Double-blind Comparison in Newly Diagnosed Epilepsy. Epilepsia. 43:993-1000. 2002
  - Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B. Neurology. 58:1426-1429. 2002
  - Hippocampal pathology in refractory temporal lobe epilepsy. Neurology. 58:265-271. 2002
  - How mutations in the nAChRs can cause ADNFLE epilepsy. Epilepsia. 43:112-122. 2002
  - Proconvulsant-ionduced seizures in alpha-4 nicotinic acetylocholine receptor subunit knockout mice. Neuropharmacology. 43:55-64. 2002
  - Seizure-associated hippocampal volume loss: A longitudinal magnetic resonance study of temporal lobe epilepsy. Annals of Neurology. 51:641-644. 2002
  - Sodium-channel defects in benign familial neonatal-infantile seizures. The Lancet. 360:851-852. 2002
  - Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. Brain. 125:2507-2522. 2002
  - Transcranial magnetic stimulation and epilepsy. Journal of Clinical Neurophysiology. 9:294-306. 2002
  - Truncation of the GABA_A -Receptor γ2 Subunit in a Family with Generalized Epilepsy with Febrile Seizures Plus. American Journal of Human Genetics. 70:530-536. 2002
  - Verbal Memory in Left Temporal Lobe Epilepsy: Evidence for Task-Related Localization. Annals of Neurology. 51:442-447. 2002
  - X-linked myoclonic epilepsy with spasticity and intellectual disability. Neurology. 59:348-356. 2002
2001
- Research Book Chapters
  - Epilepsies. Channelopathies of the nervous system. Butterworth-Heinemann. 239-249. 2001
- Journal Articles Refereed
  - AUStralian study of titration to effect profile of safety (AUS-STEPS): high-dose gabapentin (Neurontin) in partial seizures. Epilepsia. 42:1335-1339. 2001
  - CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. American Journal of Human Genetics. 68:225-231. 2001
  - Causes of Epilepsies: Insights from Discordant Monozygous Twins. Annals of Neurology. 49:45-52. 2001
  - Concussion - The history of clinical and pathophysiological concepts and misconceptions. Neurology. 57:2283-2289. 2001
  - Idiopathic generalized epilepsies: do sporadic and familial cases differ?. Epilepsia. 42:1399-1402. 2001
  - Mutant GABAA receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nature Genetics. 28:49-52. 2001
  - Mutations of the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as females. Human Molecular Genetics. 10:1775-1783. 2001
  - Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. American Journal of Human Genetics. 68:859-865. 2001
  - Prolonged cortical silent period after transcranial magnetic stimulation in generalized epilepsy. Neurology. 57:706-708. 2001
  - Seizure outcome after temporal lobectomy: current research practice and findings. Epilepsia. 42:1288-1307. 2001
  - Seizures in family members of patients with hippocampal sclerosis. Neurology. 57:1800-1804. 2001
  - Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?. Epilepsia. 42:837-844. 2001
  - Surgical resection for intractable epilepsy in 'double cortex' syndrome yields inadequate results. Epilepsia. 42:1124-1129. 2001
  - Transcallosal resection of hypothalamic hamartomas, with control of seizures, in children with gelastic epilepsy. Neurosurgery. 48:108-118. 2001
  - Unverricht-Lundborg disease in a five-generation Arab family. Instability of dodecamer repeats. Neurology. 57:1050-1054. 2001
- Journal Articles Unrefereed Letters or Notes
  - Treatment of an unprovoked tonic-clonic seizure. Journal of Clinical Neuroscience. 8:189-189. 2001

Research

Investigator on

Contract
- CRA - SEIZURE SURGERY OUTCOME (Cost Recovery Agreement AH) awarded by AUSTIN HEALTH 2010 -
- THE EPILEPSY PHENOME/GENOME PROJECT (EPGP) (Research Project Grants) awarded by UNIVERSITY OF CALIFORNIA 2009 - 2012
Grant
- Establishment of Translational Neurogenetics Laboratory (Research Grants) awarded by THYNE REID FOUNDATION 2012 - 2013
- EPILEPSY: A 'PATIENT TO BENCH AND BACK TO PATIENT' PROGRAM ABOUT UNDERSTANDING THE CAUSES OF SEIZURE DISORDERS. (Program Grants) awarded by NHMRC 2011 - 2015
- 5 OF 7 EPI4K: MULTIPLEX FAMILIES & PAIRS PROJECT (Research Project Grants) awarded by NATIONAL INSTITUTE OF HEALTH 2011 - 2014
- 1 OF 7 EPI4K: GENE DISCOVERY IN 4,000 EPILEPSY GENOMES ADMINISTRATIVE CORE (Research Project Grants) awarded by DUKE UNIVERSITY 2011 - 2013
- EPI4K-PHENOTYPING AND CLINICAL INFORMATICS CORE (Research Project Grants) awarded by UNIVERSITY OF CALIFORNIA 2011 - 2013
- Genetic basis of the epilepsies (Research Grants) awarded by THYNE REID FOUNDATION 2009 - 2011
- Improved access to a clinical research educational program for healthcare practitioners and professionals (Research Grants) awarded by ELI LILLY AUST PTY LTD 2009
- Finding Genes for Familial Fainting (Project Grants) awarded by NHMRC 2008 - 2010
- NHMRC Australia Fellowship (Australia Fellowship) awarded by NHMRC 2007 - 2012
- An international strategy for gene identification leading to discovery of new targets for treatment of neurological disease (International Science Linkages) awarded by DEPT OF EDUCATION SCIENCE & TRAINING 2007 - 2011
- GENETICS OF EPILEPSY: THE TESTIMONY OF TWINS (Neuro Science Research Grants) awarded by PFIZER AUST PTY LTD 2007 - 2010
- Novel molecular and bioinformatic approaches facilitate epilepsy gene discovery (Research Initiative Awards) awarded by AMERICAN EPILEPSY SOCIETY 2007
- Epilepsy: Molecular basis and mechanisms in the era of functional genomics (Program Grants) awarded by NHMRC 2006 - 2010
- EPILEPSY RESEARCH (Research Grant) awarded by JOHN T REID CHARITABLE TRUSTS 2006 - 2009
- Predicting the evolution of psychosocial and cognitive difficulties in epilepsy: a preventive approach (Linkage Projects) awarded by AUST RESEARCH COUNCIL 2004 - 2008
- CCRE Program - Neurosciences: Cross-Discipline Enhancement of Clinical Research and Education (Centres of Clinical Research Excellence (CCRE)) awarded by NHMRC 2003 - 2008
- Epilepsy: A collaborative research program from genome to patient (Program Grants) awarded by NHMRC 2003 - 2005
- THE BIOPHYSICAL BASIS OF ABSENCE EPILEPSY (Interdisciplinary Seed Grants) awarded by UNIVERSITY OF MELBOURNE

Awards

Education and training

MD, University of Melbourne 1985
MB BS, University of Melbourne 1977
BMedSc, University of Melbourne 1977

Awards and honors

Fellow of the Royal Society, 2007
Fellow of the Australian Academy of Science, 2005
Fellow of the Royal Australasian College of Physicians, 1984
Member of the Order of Australia, AM, 1900

Supervision

Available for supervision

Y

Contact Details
- s.berkovic@unimelb.edu.au
- 9035 7093
- fax: 9496 2291
- Location
  - Level: 02 Room: 2.75, Melbourne Brain Centre (Austin), Austin Hospital
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