Single Nucleotide Variations in CLCN6 Identified in Patients with Benign Partial Epilepsies in Infancy and/or Febrile Seizures

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

(2013) Krishna R. Veeramah et al.   EPILEPSIA

Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy

(2013) T. T. Chen et al.   NEUROLOGY

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

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

PRRT2 mutation in Japanese children with benign infantile epilepsy

(2012) Akihisa Okumura et al.   BRAIN & DEVELOPMENT

Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster

(2011) F. Del Greco M. et al.   HUMAN MOLECULAR GENETICS

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

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

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

Mutation Detection in Candidate Genes for Benign Familial Infantile Seizures on a Novel Locus

(2010) Nan Li et al.   INTERNATIONAL JOURNAL OF NEUROSCIENCE

Distinct Neuropathologic Phenotypes After Disrupting the Chloride Transport Proteins ClC-6 or ClC-7/Ostm1

(2010) Sarah N.R. Pressey et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

TULIP1 (RALGAPA1) haploinsufficiency with brain development delay

(2009) Keiko Shimojima et al.   GENOMICS

Two novelCLCN2mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy

(2009) C��cile Saint-Martin et al.   HUMAN MUTATION

CLCN2 variants in idiopathic generalized epilepsy

(2009) Ailing Kleefuß-Lie et al.   NATURE GENETICS

No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy

(2009) María I Niemeyer et al.   NATURE GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

CLC Chloride Channels and Transporters: From Genes to Protein Structure, Pathology and Physiology

(2008) Thomas J. Jentsch   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY