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

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 chan...

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Bibliographic Details
Published in:Epilepsy research 2005-02, Vol.63 (2), p.151-156
Main Authors: Nagao, Yoshiro, Mazaki-Miyazaki, Emi, Okamura, Nami, Takagi, Manabu, Igarashi, Takashi, Yamakawa, Kazuhiro
Format: Article
Language:English
Subjects:
Complex febrile seizures
DNA Mutational Analysis - methods
Epilepsy, Generalized - complications
Epilepsy, Generalized - genetics
Family Health
GEFS
Humans
Male
Mutation, Missense
NAV1.1 Voltage-Gated Sodium Channel
Nerve Tissue Proteins - blood
Nerve Tissue Proteins - genetics
Pedigree
SCN1A
Seizures, Febrile - blood
Seizures, Febrile - complications
Seizures, Febrile - genetics
Sequence Homology
Sodium Channels - blood
Sodium Channels - genetics
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Summary: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 α-1 subunit gene was found in DNA derived from the affected members of this family.
ISSN:0920-1211
1872-6844
DOI:10.1016/j.eplepsyres.2004.11.005