Nav1.1 mutations cause febrile seizures associated...[Neurology. 2001]

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1: Neurology. 2001 Aug 28;57(4):703-5. Links

Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures.

Sugawara T, Mazaki-Miyazaki E, Ito M, Nagafuji H, Fukuma G, Mitsudome A, Wada K, Kaneko S, Hirose S, Yamakawa K.

Laboratory for Neurogenetics, Brain Science Institute, RIKEN, Wako, Saitama, Japan.

Recent evidence has suggested that the neuronal voltage-gated sodium channel alpha(1)-subunit gene (Na(v)1.1: SCN1A) is responsible for generalized epilepsy with febrile seizures plus (GEFS+2). Here the authors report two novel disease mutations of Na(v)1.1 in patients with febrile seizures associated with afebrile partial seizures. One is a Val1428Ala substitution in the pore-forming region, and the other is Ala1685Val in the transmembrane helix. These results support the previous findings and contribute to the reliable diagnosis of epilepsy.

PMID: 11524484 [PubMed - indexed for MEDLINE]

Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A.
Epilepsy Res. 2002 Jan; 48(1-2):15-23.

[Epilepsy Res. 2002]
A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction.
Proc Natl Acad Sci U S A. 2001 May 22; 98(11):6384-9.

[Proc Natl Acad Sci U S A. 2001]
SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus.
J Hum Genet. 2008; 53(8):769-74. Epub 2008 Jun 20.

[J Hum Genet. 2008]
ReviewEffect of localization of missense mutations in SCN1A on epilepsy phenotype severity.
Neurology. 2004 Jul 27; 63(2):329-34.

[Neurology. 2004]
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ReviewEthical, legal, and social dimensions of epilepsy genetics.
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