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

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.

Source

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

Abstract

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]

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Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A. [Epilepsy Res. 2002]
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Generalized epilepsy with febrile seizure plus (GEFS+) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient. [J Pediatr Neurosci. 2012]
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Neurology. 2001 Aug 28 ;57(4):703-5.

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