RGD Reference Report - Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. - Rat Genome Database

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Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

Authors: Escayg, A  MacDonald, BT  Meisler, MH  Baulac, S  Huberfeld, G  An-Gourfinkel, I  Brice, A  LeGuern, E  Moulard, B  Chaigne, D  Buresi, C  Malafosse, A 
Citation: Escayg A, etal., Nat Genet 2000 Apr;24(4):343-5.
RGD ID: 727292
Pubmed: PMID:10742094   (View Abstract at PubMed)
DOI: DOI:10.1038/74159   (Journal Full-text)

Abstract for this paper unavailable

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
generalized epilepsy with febrile seizures plus 2  IAGP 727292DNA:missense mutations:cds:p.T875M and p.R1648H (human)RGD 
generalized epilepsy with febrile seizures plus 2  ISOSCN1A (Homo sapiens)727292; 727292DNA:missense mutations:cds:p.T875M and p.R1648H (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Scn1a  (sodium voltage-gated channel alpha subunit 1)

Genes (Mus musculus)
Scn1a  (sodium channel, voltage-gated, type I, alpha)

Genes (Homo sapiens)
SCN1A  (sodium voltage-gated channel alpha subunit 1)


Additional Information