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rdf:type |
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lifeskim:mentions |
umls-concept:C0014544,
umls-concept:C0026882,
umls-concept:C0039082,
umls-concept:C0205314,
umls-concept:C0205396,
umls-concept:C0332240,
umls-concept:C0439849,
umls-concept:C0445223,
umls-concept:C0679622,
umls-concept:C1419856,
umls-concept:C1552599,
umls-concept:C1704787
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pubmed:issue |
4
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|
pubmed:dateCreated |
2008-4-16
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|
pubmed:abstractText |
Sodium channel alpha 1 subunit gene, SCN1A, is the gene encoding the neuronal voltage-gated sodium channel alpha 1 subunit (Na(v)1.1) and is mutated in different forms of epilepsy. Mutations in this gene were observed in more than 70% of patients with severe myoclonic epilepsy of infancy (SMEI) and were also found in different types of infantile epileptic encephalopathy.
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pubmed:language |
eng
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pubmed:journal |
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|
pubmed:citationSubset |
AIM
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|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
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pubmed:month |
Apr
|
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pubmed:issn |
1538-3687
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pubmed:author |
pubmed-author:AiroldiGiovanniG,
pubmed-author:BaschirottoCinziaC,
pubmed-author:BassiMaria TeresaMT,
pubmed-author:BonanniPaoloP,
pubmed-author:BorgattiRenatoR,
pubmed-author:BresolinNereoN,
pubmed-author:CardinaliSimonettaS,
pubmed-author:De PoloGianniG,
pubmed-author:EpifanioRobertaR,
pubmed-author:LodiMonicaM,
pubmed-author:MartorellLoretoL,
pubmed-author:PanzeriChrisC,
pubmed-author:RedaelliFrancescaF,
pubmed-author:RomanielloRominaR,
pubmed-author:RomeoAntoninoA,
pubmed-author:VeggiottiPierangeloP,
pubmed-author:ZanottaNicolettaN,
pubmed-author:ZuccaClaudioC
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pubmed:issnType |
Electronic
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pubmed:volume |
65
|
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pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
489-94
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pubmed:meshHeading |
pubmed-meshheading:18413471-Adolescent,
pubmed-meshheading:18413471-Adult,
pubmed-meshheading:18413471-Age of Onset,
pubmed-meshheading:18413471-Child,
pubmed-meshheading:18413471-Child, Preschool,
pubmed-meshheading:18413471-Chromosome Deletion,
pubmed-meshheading:18413471-DNA Mutational Analysis,
pubmed-meshheading:18413471-Epilepsies, Myoclonic,
pubmed-meshheading:18413471-Epilepsies, Partial,
pubmed-meshheading:18413471-Epilepsy,
pubmed-meshheading:18413471-Epilepsy, Generalized,
pubmed-meshheading:18413471-Female,
pubmed-meshheading:18413471-Follow-Up Studies,
pubmed-meshheading:18413471-Genotype,
pubmed-meshheading:18413471-Heterozygote Detection,
pubmed-meshheading:18413471-Humans,
pubmed-meshheading:18413471-Infant,
pubmed-meshheading:18413471-Male,
pubmed-meshheading:18413471-Nerve Tissue Proteins,
pubmed-meshheading:18413471-Phenotype,
pubmed-meshheading:18413471-Point Mutation,
pubmed-meshheading:18413471-Seizures, Febrile,
pubmed-meshheading:18413471-Sodium Channels
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pubmed:year |
2008
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pubmed:articleTitle |
Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
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pubmed:affiliation |
Clinical Neurophysiology Unit, E. Medea Scientific Institute, Lecco, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
