RGD Reference Report - Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A. - Rat Genome Database

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Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A.

Authors: Ito, M  Nagafuji, H  Okazawa, H  Yamakawa, K  Sugawara, T  Mazaki-Miyazaki, E  Hirose, S  Fukuma, G  Mitsudome, A  Wada, K  Kaneko, S 
Citation: Ito M, etal., Epilepsy Res 2002 Jan;48(1-2):15-23.
RGD ID: 1358571
Pubmed: PMID:11823106   (View Abstract at PubMed)

Evidence that febrile seizures have a strong genetic predisposition has been well documented. In families of probands with multiple febrile convulsions, an autosomal dominant inheritance with reduced penetrance is suspected. Four candidate loci for febrile seizures have been suggested to date; FEB1 on 8q13-q21, FEB2 on 19p, FEB3 on 2q23-q24, and FEB4 on 5q14-15. A missense mutation was identified in the voltage-gated sodium (Na(+))-channel beta 1 subunit gene, SCN1B at chromosome 19p13.1 in generalized epilepsy with the febrile seizures plus type 1 (GEFS+1) family. Several missense mutations of the (Na(+))-channel alpha 1 subunit (Nav1.1) gene, SCN1A were also identified in GEFS+2 families at chromosome 2q23-q24.3. The aim of this report is precisely to describe the phenotypes of Japanese patients with novel SCN1A mutations and to reevaluate the entity of GEFS+. Four family members over three generations and one isolated (phenotypically sporadic) case with SCN1A mutations were clinically investigated. The common seizure type in these patients was febrile and afebrile generalized tonic-clonic seizures (FS+). In addition to FS+, partial epilepsy phenotypes were suspected in all affected family members and electroencephalographically confirmed in three patients of two families. GEFS+ is genetically and clinically heterogeneous, and associated with generalized epilepsy and partial epilepsy as well. The spectrum of GEFS+ should be expanded to include partial epilepsies and better to be termed autosomal dominant epilepsy with febrile seizures plus (ADEFS+).

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
generalized epilepsy with febrile seizures plus  IAGP 1358571DNA:missense mutation:cds:p.V1417A (human)RGD 
generalized epilepsy with febrile seizures plus  ISOSCN1A (Homo sapiens)1358571; 1358571DNA:missense mutation:cds:p.V1417A (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)

Objects referenced in this article
Gene SCN2A sodium voltage-gated channel alpha subunit 2 Homo sapiens
Gene Scn2a sodium voltage-gated channel alpha subunit 2 Rattus norvegicus

Additional Information