Rare exonic deletions of theRBFOX1gene increase risk of idiopathic generalized epilepsy

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

(2012) Krishna R. Veeramah et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The genetic variability and commonality of neurodevelopmental disease

(2012) Bradley P. Coe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

(2012) et al.   HUMAN MOLECULAR GENETICS

RBFOX1 regulates both splicing and transcriptional networks in human neuronal development

(2012) Brent L. Fogel et al.   HUMAN MOLECULAR GENETICS

Allele-Biased Expression in Differentiating Human Neurons: Implications for Neuropsychiatric Disorders

(2012) Mingyan Lin et al.   PLoS One

Genetics of Epilepsy

(2012) Massimo Pandolfo   SEMINARS IN NEUROLOGY

Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion

(2011) Natalie M. Gallant et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rare copy number variants are an important cause of epileptic encephalopathies

(2011) Heather C. Mefford et al.   ANNALS OF NEUROLOGY

Genome Arrays for the Detection of Copy Number Variations in Idiopathic Mental Retardation, Idiopathic Generalized Epilepsy and Neuropsychiatric Disorders: Lessons for Diagnostic Workflow and Research

(2011) R. Hochstenbach et al.   CYTOGENETIC AND GENOME RESEARCH

Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes

(2011) John C. Mulley et al.   EPILEPSIA

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

(2011) Irina Voineagu et al.   NATURE

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

(2011) Dalila Pinto et al.   NATURE BIOTECHNOLOGY

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

(2011) Josephine Elia et al.   NATURE GENETICS

The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain

(2011) Lauren T Gehman et al.   NATURE GENETICS

Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

(2010) Erin L. Heinzen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SNAP-25 in Neuropsychiatric Disorders

(2009) Irene Corradini et al.   Annals of the New York Academy of Sciences

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

(2009) C. G. F. de Kovel et al.   BRAIN

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

(2009) L. M. Dibbens et al.   HUMAN MOLECULAR GENETICS

Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice

(2009) Ligia A. Papale et al.   HUMAN MOLECULAR GENETICS

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

Autoregulation of Fox protein expression to produce dominant negative splicing factors

(2009) A. Damianov et al.   RNA

Navigating the channels and beyond: unravelling the genetics of the epilepsies

(2008) Ingo Helbig et al.   LANCET NEUROLOGY

Mechanisms of human inherited epilepsies

(2008) Christopher A. Reid et al.   PROGRESS IN NEUROBIOLOGY