Single Nucleotide Variations in CLCN6 Identified in Patients with Benign Partial Epilepsies in Infancy and/or Febrile Seizures
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Title
Single Nucleotide Variations in CLCN6 Identified in Patients with Benign Partial Epilepsies in Infancy and/or Febrile Seizures
Authors
Keywords
Epilepsy, Dideoxy DNA sequencing, Chlorides, Convulsions, Endoplasmic reticulum, Messenger RNA, Gastroenteritis, Nucleotide sequencing
Journal
PLoS One
Volume 10, Issue 3, Pages e0118946
Publisher
Public Library of Science (PLoS)
Online
2015-03-21
DOI
10.1371/journal.pone.0118946
References
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Note: Only part of the references are listed.- 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
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