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Genetic variation of CACNA1H in idiopathic generalized epilepsy

โœ Scribed by Sarah E. Heron; Hilary A. Phillips; John C. Mulley; Aziz Mazarib; Miriam Y. Neufeld; Samuel F. Berkovic; Ingrid E. Scheffer

Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
94 KB
Volume
55
Category
Article
ISSN
0364-5134

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โœฆ Synopsis

contribute to the various phenotypes in this family. 3 Even if variation in CACNA1H is a contributing factor in generalized epilepsy syndromes, its effect size is likely to be small.

Note Added in Proof

Khosravhani and colleagues ("Gating effects of mutations in the Ca v 3.2 T-type calcium channel associated with childhood absence epilepsy"

๐Ÿ“œ SIMILAR VOLUMES

Mutational analysis of CACNA1G in idiopa
Mutational analysis of CACNA1G in idiopathic generalized epilepsy
โœ Baljinder Singh; Arnaud Monteil; Isabelle Bidaud; Yoshihisa Sugimoto; Toshimitsu ๐Ÿ“‚ Article ๐Ÿ“… 2007 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 394 KB

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 p