Samuel F Berkovic

发表

Concepts and controversies of juvenile myoclonic epilepsy: still an enigmatic epilepsy

Dieter Schmidt, Britta Wandschneider, Matthias J Koepp, 2014, Expert review of neurotherapeutics.

SCN1A mutations and epilepsy

Steven Petrou, I. Scheffer, S. Berkovic, 2005, Human mutation.

Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus.

Holger Lerche, Steven Petrou, Marie-Therese Horstmann, 2010, The Journal of clinical investigation.

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.

Steven Petrou, David A Williams, I. Scheffer, 2002, American journal of human genetics.

Epileptology of the first-seizure presentation: a clinical, electroencephalographic, and magnetic resonance imaging study of 300 consecutive patients

Graeme D Jackson, G. Jackson, M. Newton, 1998, The Lancet.

Sodium channels and the neurobiology of epilepsy

Steven Petrou, S. Berkovic, S. Petrou, 2012, Epilepsia.

Psychological trajectories in the year after a newly diagnosed seizure

M. Newton, S. Berkovic, M. Saling, 2012, Epilepsia.

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.

Melanie Bahlo, Bastiaan R Bloem, Luke C Gandolfo, 2011, American journal of human genetics.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

François Dubeau, Guillaume Bourque, Ange-Line Bruel, 2017, American journal of human genetics.

Changes in cortical excitability differentiate generalized and focal epilepsy

Mark Newton, M. Newton, S. Berkovic, 2007, Annals of neurology.

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation

David J Balding, David B Ascher, Michael Silk, 2017, Genome research.

MR imaging and spectroscopic study of epileptogenic hypothalamic hamartomas: analysis of 72 cases.

Jeffrey V Rosenfeld, Graeme D Jackson, G. Jackson, 2004, AJNR. American journal of neuroradiology.

Verbal memory in left temporal lobe epilepsy: Evidence for task‐related localization

David C Reutens, S. Berlangieri, S. Berkovic, 2002, Annals of neurology.

The Human Variome Project

Sue Povey, Johan T den Dunnen, Anthony J Brookes, 2008, Science.

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Andrew Menzies, Sarah Edkins, Sara Widaa, 2008, Nature Genetics.

Analyzing the Etiology of Benign Rolandic Epilepsy: A Multicenter Twin Collaboration

John L Hopper, Roger L Milne, Linda A Corey, 2006, Epilepsia.

Predicting seizure control: Cortical excitability and antiepileptic medication

Graeme D Jackson, G. Jackson, M. Newton, 2010, Annals of neurology.

Temporal lobectomy: long-term seizure outcome, late recurrence and risks for seizure recurrence.

Regula S Briellmann, S. Berkovic, R. Kalnins, 2004, Brain : a journal of neurology.

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.

Steven Petrou, I. Scheffer, S. Berkovic, 2004, Human molecular genetics.

SRPX2 mutations in disorders of language cortex and cognition.

Marie-Noëlle Metz-Lutz, Edouard Hirsch, Sandrine Pereira, 2006, Human molecular genetics.

Impaired verbal associative learning after resection of left perirhinal cortex.

David C Reutens, S. Berkovic, D. Reutens, 2007, Brain : a journal of neurology.

Mutations in filamin 1 Prevent Migration of Cerebral Cortical Neurons in Human Periventricular Heterotopia

William B Dobyns, Christopher A Walsh, Susan E Hong, 1998, Neuron.

Can changes in cortical excitability distinguish progressive from juvenile myoclonic epilepsy?

Graeme D Jackson, G. Jackson, S. Berkovic, 2010, Epilepsia.

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

Michael R Stratton, N. Brown, I. Scheffer, 2009, Journal of Medical Genetics.

EEG in Adult‐onset Idiopathic Generalized Epilepsy

Carla Marini, M. Newton, S. Berkovic, 2003, Epilepsia.

Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation.

Carla Marini, I. Scheffer, S. Berkovic, 2003, Brain : a journal of neurology.

Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [γ2(R43Q)] found in human epilepsy

Steven Petrou, Michael W Parker, Carla Marini, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Hippocampal pathology in refractory temporal lobe epilepsy

Regula S Briellmann, Graeme D Jackson, G. Jackson, 2002, Neurology.

Clinical and molecular genetics of myoclonic–astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome)

I. Scheffer, S. Berkovic, J. Mulley, 2001, Brain and Development.