Primer Part 1-The building blocks of epilepsy genetics

Familial risk of epilepsy: a population-based study

(2014) Anna L. Peljto et al.   BRAIN

Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature

(2014) Chelsea Lowther et al.   GENETICS IN MEDICINE

Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

(2014)   LANCET NEUROLOGY

Genetics of epilepsy: The testimony of twins in the molecular era

(2014) L. Vadlamudi et al.   NEUROLOGY

Genetics of the epilepsies

(2013) Ingo Helbig et al.   CURRENT OPINION IN NEUROLOGY

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

(2013) K. Nakamura et al.   NEUROLOGY

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

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

ARX spectrum disorders: making inroads into the molecular pathology

(2010) Cheryl Shoubridge et al.   HUMAN MUTATION

Timing of De Novo Mutagenesis — A Twin Study of Sodium-Channel Mutations

(2010) Lata Vadlamudi et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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

Duplication hotspots, rare genomic disorders, and common disease

(2009) Heather C Mefford et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

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

(2008) Ingo Helbig et al.   LANCET NEUROLOGY

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

(2008) Hirotomo Saitsu et al.   NATURE GENETICS