Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities

SCN8Amutations in Chinese children with early onset epilepsy and intellectual disability

(2015) Weijing Kong et al.   EPILEPSIA

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

(2015) Steffen Syrbe et al.   NATURE GENETICS

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

(2014) Mikko Muona et al.   NATURE GENETICS

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

(2014) Cas Simons et al.   NATURE GENETICS

SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information

(2014) Marco Biasini et al.   NUCLEIC ACIDS RESEARCH

Pediatric epilepsy genetics

(2013) Massimo Pandolfo   CURRENT OPINION IN NEUROLOGY

A new locus for familial temporal lobe epilepsy on chromosome 3q

(2013) Lyne Chahine et al.   EPILEPSY RESEARCH

Recent advances in the molecular genetics of epilepsy

(2013) Michael S Hildebrand et al.   JOURNAL OF MEDICAL GENETICS

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

KCNQ2 encephalopathy: Delineation of the electroclinical phenotype and treatment response

(2013) A. L. Numis et al.   NEUROLOGY

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA

Epilepsy and autism: Is there a special relationship?

(2012) Anne T. Berg et al.   EPILEPSY & BEHAVIOR

Ion channels in genetic and acquired forms of epilepsy

(2012) Holger Lerche et al.   JOURNAL OF PHYSIOLOGY-LONDON

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

(2012) Giulia Barcia et al.   NATURE GENETICS

Genetics of Epilepsy

(2012) Massimo Pandolfo   SEMINARS IN NEUROLOGY

Novel SCN1A Mutation in a Proband With Malignant Migrating Partial Seizures of Infancy

(2011) Emily R. Freilich et al.   ARCHIVES OF NEUROLOGY

Epilepsy, cognition, and behavior: The clinical picture

(2011) Anne T. Berg   EPILEPSIA

Health perception and socioeconomic status following childhood-onset epilepsy: The Dutch study of epilepsy in childhood

(2011) Ada Geerts et al.   EPILEPSIA

Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy

(2011) Giorgia Busolin et al.   EPILEPSY RESEARCH

De novo SCN1A mutations in migrating partial seizures of infancy

(2011) D. Carranza Rojo et al.   NEUROLOGY

Toward the estimation of the absolute quality of individual protein structure models

(2010) Pascal Benkert et al.   BIOINFORMATICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Advances in understanding basic mechanisms of epilepsy and seizures

(2010) John G.R. Jefferys   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Genetics of intellectual disability

(2008) H Hilger Ropers   CURRENT OPINION IN GENETICS & DEVELOPMENT

Global cognitive function in children with epilepsy: A community-based study

(2008) Anne T. Berg et al.   EPILEPSIA

Autosomal dominant lateral temporal epilepsy: Absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins

(2008) Erica Diani et al.   EPILEPSY RESEARCH

Cortisone dissociates the Shaker family K+ channels from their β subunits

(2008) Yaping Pan et al.   Nature Chemical Biology