De novo mutations in HCN1 cause early infantile epileptic encephalopathy

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

(2013) Arvid Suls et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

(2013) Caroline Nava et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations of DEPDC5 cause autosomal dominant focal epilepsies

(2013) Saeko Ishida et al.   NATURE GENETICS

HCN channels: Function and clinical implications

(2013) E. E. Benarroch   NEUROLOGY

Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects

(2013) S. Cestele et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Towards an integrated view of HCN channel role in epilepsy

(2011) Yoav Noam et al.   CURRENT OPINION IN NEUROBIOLOGY

The core Dravet syndrome phenotype

(2011) Charlotte Dravet   EPILEPSIA

Recessive Loss-of-Function Mutation in the Pacemaker HCN2 Channel Causing Increased Neuronal Excitability in a Patient with Idiopathic Generalized Epilepsy

(2011) J. C. DiFrancesco et al.   JOURNAL OF NEUROSCIENCE

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing

(2011) Joke Reumers et al.   NATURE BIOTECHNOLOGY

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

(2011) Dalila Pinto et al.   NATURE BIOTECHNOLOGY

Variation in genome-wide mutation rates within and between human families

(2011) Donald F Conrad et al.   NATURE GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

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

(2010) Heng Li et al.   BIOINFORMATICS

Increased seizure severity and seizure-related death in mice lacking HCN1 channels

(2010) Bina Santoro et al.   EPILEPSIA

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

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Augmented currents of an HCN2 variant in patients with febrile seizure syndromes

(2009) Leanne M. Dibbens et al.   ANNALS OF NEUROLOGY

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Loss of Dendritic HCN1 Subunits Enhances Cortical Excitability and Epileptogenesis

(2009) Z. Huang et al.   JOURNAL OF NEUROSCIENCE

Hyperpolarization-Activated Cation Channels: From Genes to Function

(2009) Martin Biel et al.   PHYSIOLOGICAL REVIEWS

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

(2009) Christel Depienne et al.   PLoS Genetics

Decreases in HCN mRNA expression in the hippocampus after kindling and status epilepticus in adult rats

(2008) Kim L. Powell et al.   EPILEPSIA

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

(2008) C Depienne et al.   JOURNAL OF MEDICAL GENETICS

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

(2008) Leanne M Dibbens et al.   NATURE GENETICS

Absence epilepsy in apathetic, a spontaneous mutant mouse lacking the h channel subunit, HCN2

(2008) Wendy K. Chung et al.   NEUROBIOLOGY OF DISEASE

Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy

(2007) Bin Tang et al.   NEUROBIOLOGY OF DISEASE