Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

Genetics of febrile seizure subtypes and syndromes: A twin study

(2013) Jazmin Eckhaus et al.   EPILEPSY RESEARCH

PRRT2-related disorders: further PKD and ICCA cases and review of the literature

(2013) Felicitas Becker et al.   JOURNAL OF NEUROLOGY

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Neurotransmitter Release: The Last Millisecond in the Life of a Synaptic Vesicle

(2013) Thomas C. Südhof   NEURON

Validation of the Zebrafish Pentylenetetrazol Seizure Model: Locomotor versus Electrographic Responses to Antiepileptic Drugs

(2013) Tatiana Afrikanova et al.   PLoS One

PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

(2012) Sarah E. Heron et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Syntaxin-1 N-peptide and Habc-domain perform distinct essential functions in synaptic vesicle fusion

(2012) Peng Zhou et al.   EMBO JOURNAL

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA

PRRT2 Mutations are the major cause of benign familial infantile seizures

(2012) Julian Schubert et al.   HUMAN MUTATION

Mechanisms of physiological and epileptic HFO generation

(2012) John G.R. Jefferys et al.   PROGRESS IN NEUROBIOLOGY

Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

(2012) Hsien-Yang Lee et al.   Cell Reports

Chromosomal Haplotypes by Genetic Phasing of Human Families

(2011) Jared C. Roach et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

(2011) J.-L. Wang et al.   BRAIN

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

(2011) Wan-Jin Chen et al.   NATURE GENETICS

Dindel: Accurate indel calls from short-read data

(2010) C. A. Albers et al.   GENOME RESEARCH

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

(2010) A. McKenna et al.   GENOME RESEARCH

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

(2010) J. C. Roach et al.   SCIENCE

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Glutamate drives the touch response through a rostral loop in the spinal cord of zebrafish embryos

(2009) Thomas Pietri et al.   Developmental Neurobiology

Heterogeneity of glutamatergic and GABAergic release machinery in cerebral cortex: analysis of synaptogyrin, vesicle-associated membrane protein, and syntaxin

(2009) L. Bragina et al.   NEUROSCIENCE

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE

A BFIS-like syndrome with late onset and febrile seizures: Suggestive linkage to chromosome 16p11.2-16q12.1

(2008) Yvonne G. Weber et al.   EPILEPSIA

Mapping short DNA sequencing reads and calling variants using mapping quality scores

(2008) H. Li et al.   GENOME RESEARCH

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

(2008) Hirotomo Saitsu et al.   NATURE GENETICS

Conformational Switch of Syntaxin-1 Controls Synaptic Vesicle Fusion

(2008) Stefan H. Gerber et al.   SCIENCE