Associated Papers
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings.
Martínez-Monseny AF et al.
International Journal of Molecular Sciences, 2021
34068417 (PubMed )
Supplement: ijms-22-05180-s001.zip › ijms-1202093-supplementary.pdf
Rare CACNA1A mutations leading to congenital ataxia.
Izquierdo-Serra M et al.
Pflugers Archiv : European Journal of Physiology, 2020
Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
Travaglini L et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2017
P016. Congenital ataxia, hemiplegic migraine due to a novel mutation of CACNA1A: a case report.
Frusciante R et al.
The Journal of Headache and Pain, 2015
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