De novoKCNB1mutations in epileptic encephalopathy

Gain-of-functionADCY5mutations in familial dyskinesia with facial myokymia

(2014) Ying-Zhang Chen et al.   ANNALS OF NEUROLOGY

Deletion of the Kv2.1 delayed rectifier potassium channel leads to neuronal and behavioral hyperexcitability

(2014) D. J. Speca et al.   GENES BRAIN AND BEHAVIOR

Kv2 Channel Regulation of Action Potential Repolarization and Firing Patterns in Superior Cervical Ganglion Neurons and Hippocampal CA1 Pyramidal Neurons

(2014) P. W. Liu et al.   JOURNAL OF NEUROSCIENCE

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

(2014) Caroline Nava et al.   NATURE GENETICS

Dominant-negative effects ofKCNQ2mutations are associated with epileptic encephalopathy

(2013) Gökce Orhan et al.   ANNALS OF NEUROLOGY

The Epilepsy Phenome/Genome Project

(2013) et al.   Clinical Trials

Diagnostic delays in children with early onset epilepsy: Impact, reasons, and opportunities to improve care

(2013) Anne T. Berg et al.   EPILEPSIA

SCN1Atesting for epilepsy: Application in clinical practice

(2013) Shinichi Hirose et al.   EPILEPSIA

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

(2013) Krishna R. Veeramah et al.   EPILEPSIA

Kv2 channels regulate firing rate in pyramidal neurons from rat sensorimotor cortex

(2013) Dongxu Guan et al.   JOURNAL OF PHYSIOLOGY-LONDON

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

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

(2013) Gemma L Carvill et al.   NATURE GENETICS

Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability

(2013) Janelle E. O'Brien et al.   Frontiers in Genetics

The clinical utility of anSCN1Agenetic diagnosis in infantile-onset epilepsy

(2012) ANDREAS BRUNKLAUS et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

(2011) A. Abyzov et al.   GENOME RESEARCH

Postnatal development of A-type and Kv1- and Kv2-mediated potassium channel currents in neocortical pyramidal neurons

(2011) Dongxu Guan et al.   JOURNAL OF NEUROPHYSIOLOGY

Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega

(2011) F. Sievers et al.   Molecular Systems Biology

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility

(2011) B. S. Jorge et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

K+ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension

(2011) M. Choi et al.   SCIENCE

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS