<i>CACNA1A</i> Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings.

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作者： Antonio F,Martínez-Monseny ^[1] ; Albert,Edo ^[2] ; Dídac,Casas-Alba ^[1] ; Mercè,Izquierdo-Serra ^[2] ; Mercè,Bolasell ^[1] ; David,Conejo ^[3] ; Loreto,Martorell ^[1] ; Jordi,Muchart ^[4] ; Laura,Carrera ^[5] ; Carlos I,Ortez ^[6] ; Andrés,Nascimento ^[4] ; Baldo,Oliva ^[6] ; José M,Fernández-Fernández ^[4] ; Mercedes,Serrano ^[6]

作者单位： Department of Genetic and Molecular Medicine, Institut de Recerca, Hospital Sant Joan de Déu, 08950 Barcelona, Spain. ^[1] Laboratory of Molecular Physiology, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Spain. ^[2] Pediatric Department, Complejo Asistencial de Burgos, 09006 Burgos, Spain. ^[3] U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, 08002 Barcelona, Spain. ^[4] Pediatric Radiology Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, 08950 Barcelona, Spain. ^[5] Neuropediatric Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, 08950 Barcelona, Spain. ^[6] Structural Bioinformatics Lab, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Spain. ^[7]

关键词 CACNA1A gene CaV2.1 (P/Q-type) voltage-dependent calcium channel ataxia cerebellar atrophy dysmorphic traits early-onset cerebellar ataxia