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Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants

✍ Scribed by Sarah E. Heron; Houman Khosravani; Diego Varela; Chris Bladen; Tristiana C. Williams; Michelle R. Newman; Ingrid E. Scheffer; Samuel F. Berkovic; John C. Mulley; Gerald W. Zamponi

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 335 KB
Volume: 62
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.21169

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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 cha