Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing

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

Normokalemic periodic paralysis with involuntary movements and generalized epilepsy associated with two novel mutations in SCN4A gene

(2015) Lingling Cao et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant

(2015) Coloma Tiron et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Dysfunctional HCN ion channels in neurological diseases

(2015) Jacopo C. DiFrancesco et al.   Frontiers in Cellular Neuroscience

Gain-of-function mutations in sodium channel NaV1.9 in painful neuropathy

(2014) Jianying Huang et al.   BRAIN

Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series

(2014) Sara Partemi et al.   INTERNATIONAL JOURNAL OF LEGAL MEDICINE

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

(2014) Caroline Nava et al.   NATURE GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Sudden unexpected death in epilepsy: From the lab to the clinic setting

(2013) Vera C. Terra et al.   EPILEPSY & BEHAVIOR

Potential mechanisms of sudden unexpected death in epilepsy

(2013) Gleb P. Tolstykh et al.   EPILEPSY & BEHAVIOR

Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation

(2013) Pasquale Parisi et al.   EPILEPSY RESEARCH

Functional Na V 1.8 Channels in Intracardiac Neurons

(2012) Arie O. Verkerk et al.   CIRCULATION RESEARCH

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

(2012)   NATURE

The GEM mapper: fast, accurate and versatile alignment by filtration

(2012) Santiago Marco-Sola et al.   NATURE METHODS

Unifying the definitions of sudden unexpected death in epilepsy

(2011) Lina Nashef et al.   EPILEPSIA

Sudden unexpected death in epilepsy

(2011) Simon Shorvon et al.   LANCET

Hemiconvulsion-Hemiplegia-Epilepsy Syndrome Associated With CACNA1A S218L Mutation

(2011) Sawako Yamazaki et al.   PEDIATRIC NEUROLOGY

Post-Mortem Review and Genetic Analysis of Sudden Unexpected Death in Epilepsy (SUDEP) Cases

(2010) Emily Tu et al.   BRAIN PATHOLOGY

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

(2010) A. McKenna et al.   GENOME RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS