Abstract |
Recent studies have strongly implicated low voltage-activated/ T-type calcium channels (T-channels) in the etiology of epilepsy. Here, we report the results of a mutational analysis of the CACNA1G gene, encoding the T-channel Ca(V)3.1/(1G) subunit, using a cohort of 123 mostly Japanese and Hispanic patients with idiopathic generalized epilepsies ( IGE) and 360 healthy control individuals. We found 13 variants, including five which involved amino acid substitutions. One variant, c.1709C>T (Ala570Val), is present in a sporadic case of juvenile myoclonic epilepsy (JME) with early childhood absence and astatic seizures, but was not found in control samples. Another variant, c.3265G>T (Ala1089Ser), was observed in three family members affected with JME, and also in one control individual. Two JME patients and three control individuals harbored a third variant, c.2968G>A (Asp980Asn). Although not statistically significant, slightly faster inactivation decay rates were observed in some mutant channels. Our collective findings flag CACNA1G as a potential susceptibility locus for IGE subsyndromes that warrants closer investigation.
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Authors | Baljinder Singh, Arnaud Monteil, Isabelle Bidaud, Yoshihisa Sugimoto, Toshimitsu Suzuki, Shin-ichiro Hamano, Hirokazu Oguni, Makiko Osawa, Maria E Alonso, Antonio V Delgado-Escueta, Yushi Inoue, Norio Yasui-Furukori, Sunao Kaneko, Philippe Lory, Kazuhiro Yamakawa |
Journal | Human mutation
(Hum Mutat)
Vol. 28
Issue 5
Pg. 524-5
(May 2007)
ISSN: 1098-1004 [Electronic] United States |
PMID | 17397049
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | 2007 Wiley-Liss, Inc. |
Chemical References |
- CACNA1G protein, human
- Calcium Channels, T-Type
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Topics |
- Calcium Channels, T-Type
- Epilepsy
(genetics)
- Humans
- Mutation
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