title: Acute striatal necrosis in hemiplegic migraine with de novo CACNA1A mutation.
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.
authors.affiliation: Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain.
authors.forename: Oriel
authors.initials: O
authors.lastname: Carreño
authors.forename: María Teresa
authors.initials: MT
authors.lastname: García-Silva
authors.forename: Óscar
authors.initials: Ó
authors.lastname: García-Campos
authors.forename: Ana
authors.initials: A
authors.lastname: Martínez-de Aragón
authors.forename: Bru
authors.initials: B
authors.lastname: Cormand
authors.forename: Alfons
authors.initials: A
authors.lastname: Macaya
mesh_terms: D000208:Acute Disease; D015220:Calcium Channels / Q000235:genetics*; D002648:Child; D003342:Corpus Striatum / Q000473:pathology*; D005260:Female; D006429:Hemiplegia / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008881:Migraine Disorders / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D009336:Necrosis / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D020864:Calcium Channels, N-Type
chemical_list: D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type