Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies

The Phe932Ile mutation in KCNT1 channels associated with severe epilepsy, delayed myelination and leukoencephalopathy produces a loss-of-function channel phenotype

(2017) Katherine M. Evely et al.   NEUROSCIENCE

Epilepsy-associated genes

(2017) Jie Wang et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Novel clinical manifestations in patients with KCNA2 mutations

(2017) Monisha Sachdev et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy

(2017) Feng Wei et al.   Neuroscience Bulletin

Paroxysmal nocturnal haemoglobinuria

(2017) Anita Hill et al.   Nature Reviews Disease Primers

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

(2016) Natalie Trump et al.   JOURNAL OF MEDICAL GENETICS

The genetic landscape of the epileptic encephalopathies of infancy and childhood

(2016) Amy McTague et al.   LANCET NEUROLOGY

Potassium Channels and Human Epileptic Phenotypes: An Updated Overview

(2016) Chiara Villa et al.   Frontiers in Cellular Neuroscience

Molecular Pathogenic Basis forGABRG2Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome

(2016) Jing-Qiong Kang et al.   JAMA Neurology

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

(2016) Carolien G.F. de Kovel et al.   Molecular Genetics & Genomic Medicine

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

(2015) Gemma L. Carvill et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

TheSCN1AMutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype

(2015) Heng Meng et al.   HUMAN MUTATION

SPTAN1 encephalopathy: distinct phenotypes and genotypes

(2015) Jun Tohyama et al.   JOURNAL OF HUMAN GENETICS

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

De novoKCNB1mutations in epileptic encephalopathy

(2014) Ali Torkamani et al.   ANNALS OF NEUROLOGY

The genetic landscape of infantile spasms

(2014) Jacques L. Michaud et al.   HUMAN MOLECULAR GENETICS

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features

(2014) M. Kato et al.   NEUROLOGY

GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

(2014) G. L. Carvill et al.   NEUROLOGY

Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

(2013) Bobby G. Ng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

X chromosome exome sequencing reveals a novelALG13mutation in a nonsyndromic intellectual disability family with multiple affected male siblings

(2013) Nesrine Bissar-Tadmouri et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Reduction of seizure frequency after epilepsy surgery in a patient withSTXBP1encephalopathy and clinical description of six novel mutation carriers

(2013) Sarah Weckhuysen et al.   EPILEPSIA

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

(2013) Krishna R. Veeramah et al.   EPILEPSIA

A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy

(2013) Atsushi Ishii et al.   GENE

De Novo Mutations inSLC35A2Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy

(2013) Hirofumi Kodera et al.   HUMAN MUTATION

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

(2012) Yali Xue et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome

(2012) Hirotomo Saitsu et al.   ANNALS OF NEUROLOGY

Functional profiles of SCN9A variants in dorsal root ganglion neurons and superior cervical ganglion neurons correlate with autonomic symptoms in small fibre neuropathy

(2012) Chongyang Han et al.   BRAIN

Evaluating Pathogenicity of Rare Variants From Dilated Cardiomyopathy in the Exome Era

(2012) Nadine Norton et al.   Circulation-Cardiovascular Genetics

A population-based study of newly diagnosed epilepsy in infants

(2012) Christin M. Eltze et al.   EPILEPSIA

Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy

(2012) Ji-wen Wang et al.   EPILEPSY RESEARCH

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

(2012) Giulia Barcia et al.   NATURE GENETICS

Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

(2011) Saul A. Mullen   ARCHIVES OF NEUROLOGY

The genetics of Dravet syndrome

(2011) Carla Marini et al.   EPILEPSIA

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Genotype-phenotype associations in SCN1A-related epilepsies

(2011) S. M. Zuberi et al.   NEUROLOGY

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

(2010) C. Depienne et al.   JOURNAL OF MEDICAL GENETICS