16236810

Source:http://linkedlifedata.com/resource/pubmed/id/16236810

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0004134, umls-concept:C0019425, umls-concept:C0025362, umls-concept:C0026882, umls-concept:C0030705, umls-concept:C0037492, umls-concept:C0740279, umls-concept:C1419866, umls-concept:C1514568
pubmed:issue	6
pubmed:dateCreated	2006-6-2
pubmed:abstractText	The SCN8A gene on chromosome 12q13 encodes the voltage gated sodium channel Na(v)1.6, which is widely expressed in neurons of the CNS and PNS. Mutations in the mouse ortholog of SCN8A result in ataxia and other movement disorders.
pubmed:grant	http://linkedlifedata.com/resource/pubmed/grant/NS040389, http://linkedlifedata.com/resource/pubmed/grant/NS34509
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-10198179, http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-10471492, http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-10742094, http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-10779552, http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-11181979, http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-11264302, http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-11343647, http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-11359211, http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-11700294, http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-11741959, http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-11914424, http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-12374766, http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-12566275, http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-12610651, http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-12837571, http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-14504318, http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-15056687, http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-15525788, http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-15619959, http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-15635639, http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-15682295, http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-15716411, http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-15811336, http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-16075041, http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-7670495, http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-9354334, http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-9828131, http://linkedlifedata.com/resource/pubmed/commentcorrection/16236810-9855520
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/2985087R
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Codon, Nonsense, http://linkedlifedata.com/resource/pubmed/chemical/Nerve Tissue Proteins, http://linkedlifedata.com/resource/pubmed/chemical/SCN8A protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Sodium Channels
pubmed:status	MEDLINE
pubmed:month	Jun
pubmed:issn	1468-6244
pubmed:author	pubmed-author:DaltonJ CJC, pubmed-author:DayJ WJW, pubmed-author:MeislerM HMH, pubmed-author:RanumL P WLP, pubmed-author:TrudeauM MMM
pubmed:issnType	Electronic
pubmed:volume	43
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	527-30
pubmed:dateRevised	2011-11-17
pubmed:meshHeading	pubmed-meshheading:16236810-Alleles, pubmed-meshheading:16236810-Atrophy, pubmed-meshheading:16236810-Base Sequence, pubmed-meshheading:16236810-Cerebellar Ataxia, pubmed-meshheading:16236810-Cerebellum, pubmed-meshheading:16236810-Child, pubmed-meshheading:16236810-Codon, Nonsense, pubmed-meshheading:16236810-DNA Mutational Analysis, pubmed-meshheading:16236810-Frameshift Mutation, pubmed-meshheading:16236810-Genetic Testing, pubmed-meshheading:16236810-Haplotypes, pubmed-meshheading:16236810-Heterozygote, pubmed-meshheading:16236810-Humans, pubmed-meshheading:16236810-Inheritance Patterns, pubmed-meshheading:16236810-Intellectual Disability, pubmed-meshheading:16236810-Male, pubmed-meshheading:16236810-Nerve Tissue Proteins, pubmed-meshheading:16236810-Pedigree, pubmed-meshheading:16236810-Sequence Deletion, pubmed-meshheading:16236810-Sodium Channels
pubmed:year	2006
pubmed:articleTitle	Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.
pubmed:publicationType	Letter, Case Reports, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural