A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures

Yoshiro Nagao; Emi Mazaki-Miyazaki; Nami Okamura; Manabu Takagi; Takashi Igarashi; Kazuhiro Yamakawa

doi:10.1016/j.eplepsyres.2004.11.005

A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures

Epilepsy Res. 2005 Feb;63(2-3):151-6. doi: 10.1016/j.eplepsyres.2004.11.005.

Authors

Yoshiro Nagao¹, Emi Mazaki-Miyazaki, Nami Okamura, Manabu Takagi, Takashi Igarashi, Kazuhiro Yamakawa

Affiliation

¹ Department of Pediatrics, Social Health Insurance Medical Center, 3-22-1 Hyakunin-cho, Shinjuku, Tokyo 1690073, Japan. [email protected]

PMID: 15715999
DOI: 10.1016/j.eplepsyres.2004.11.005

Abstract

We report a family with complex febrile seizures (FS). The proband is a 15-year-old boy with seizures that persisted beyond 6 years of age. His father, aunt, and cousin also have the histories of FS until 8, 9, and 8 years old, respectively. A base substitution 5569G-->T of voltage-gated sodium channel alpha-1 subunit gene was found in DNA derived from the affected members of this family.

Publication types

Case Reports
Comparative Study

MeSH terms

DNA Mutational Analysis / methods
Epilepsy, Generalized / complications
Epilepsy, Generalized / genetics*
Family Health*
Humans
Male
Mutation, Missense*
NAV1.1 Voltage-Gated Sodium Channel
Nerve Tissue Proteins / blood
Nerve Tissue Proteins / genetics*
Pedigree
Seizures, Febrile / blood
Seizures, Febrile / complications
Seizures, Febrile / genetics*
Sequence Homology
Sodium Channels / blood
Sodium Channels / genetics*

Substances

NAV1.1 Voltage-Gated Sodium Channel
Nerve Tissue Proteins
SCN1A protein, human
Sodium Channels