Channelpedia

PubMed 22082423


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Cav2.1



Title: Acute striatal necrosis in hemiplegic migraine with de novo CACNA1A mutation.

Authors: Oriel Carreño, María Teresa García-Silva, Óscar García-Campos, Ana Martínez-de Aragón, Bru Cormand, Alfons Macaya

Journal, date & volume: Headache, 2011 Nov-Dec , 51, 1542-6

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/22082423


Abstract
We report the case of a 9-year-old girl with early-onset developmental delay, chronic ataxia and prolonged hemiplegic migraine episodes bringing about progressive deterioration. Two days into one episode, diffusion-weighted magnetic resonance imaging disclosed unilateral striatal abnormal signal consistent with cytotoxic edema, which evolved into atrophy on follow-up scans. Mutational screen of CACNA1A gene identified a de novo p.Tyr1387Cys mutation.