|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
13
|
|
pubmed:dateCreated |
2009-9-29
|
|
pubmed:abstractText |
Mutations of voltage-gated sodium channel alpha(II) gene, SCN2A, have been described in a wide spectrum of epilepsies. While inherited SCN2A mutations have been identified in multiple mild epilepsy cases, a de novo SCN2A-R102X mutation, which we previously reported in a patient with sporadic intractable childhood localization-related epilepsy, remains unique. To validate the involvement of de novo SCN2A mutations in the etiology of intractable epilepsies, we sought to identify additional instances.
|
|
pubmed:grant |
|
|
pubmed:commentsCorrections |
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Sep
|
|
pubmed:issn |
1526-632X
|
|
pubmed:author |
pubmed-author:FujiwaraTT,
pubmed-author:HashikawaTT,
pubmed-author:InoueII,
pubmed-author:InoueYY,
pubmed-author:ItoKK,
pubmed-author:KanedaMM,
pubmed-author:MazakiEE,
pubmed-author:MontanKK,
pubmed-author:OgiwaraII,
pubmed-author:OsakaHH,
pubmed-author:SawaishiYY,
pubmed-author:ShikuDD,
pubmed-author:YamakawaKK
|
|
pubmed:issnType |
Electronic
|
|
pubmed:day |
29
|
|
pubmed:volume |
73
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
1046-53
|
|
pubmed:dateRevised |
2011-7-22
|
|
pubmed:meshHeading |
pubmed-meshheading:19786696-Amino Acid Sequence,
pubmed-meshheading:19786696-Cell Line,
pubmed-meshheading:19786696-Conserved Sequence,
pubmed-meshheading:19786696-DNA Mutational Analysis,
pubmed-meshheading:19786696-Epilepsies, Myoclonic,
pubmed-meshheading:19786696-Fatal Outcome,
pubmed-meshheading:19786696-Female,
pubmed-meshheading:19786696-Haplotypes,
pubmed-meshheading:19786696-Humans,
pubmed-meshheading:19786696-Infant, Newborn,
pubmed-meshheading:19786696-Kidney,
pubmed-meshheading:19786696-Male,
pubmed-meshheading:19786696-Mutation, Missense,
pubmed-meshheading:19786696-Nerve Tissue Proteins,
pubmed-meshheading:19786696-Patch-Clamp Techniques,
pubmed-meshheading:19786696-Protein Structure, Tertiary,
pubmed-meshheading:19786696-Severity of Illness Index,
pubmed-meshheading:19786696-Sodium Channels,
pubmed-meshheading:19786696-Spasms, Infantile,
pubmed-meshheading:19786696-Transfection,
pubmed-meshheading:19786696-Young Adult
|
|
pubmed:year |
2009
|
|
pubmed:articleTitle |
De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.
|
|
pubmed:affiliation |
Laboratory for Neurogenetics, RIKEN Brain Science Institute, Wako, Saitama, Japan.
|
|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
|
