Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

doi:10.1016/j.ejpn.2016.11.005

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Article

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2017

Travaglini Lorena, Nardella Marta, Bellacchio Emanuele, D'Amico Adele, Capuano Alessandro, Frusciante Roberto, Di Capua Matteo, Cusmai Raffaella, Barresi Sabina, Morlino Silvia, Fernández-Fernández José M, Trivisano Marina, Specchio Nicola, Valeriani Massimiliano, Vigevano Federico, Bertini Enrico, Zanni Ginevra

Abstract excerpt

BACKGROUND: Mutations in the CACNA1A gene, encoding the pore-forming CaV2.1 (P/Q-type) channel α1A subunit, localized at presynaptic terminals of brain and cerebellar neurons, result in clinically variable neurological disorders including hemiplegic migraine (HM) and episodic or progressive adult-onset ataxia (EA2, SCA6). Most recently, CACNA1A mutations have been identified in patients with nonprogressive...

Topics

Ataxia
Atrophy
Calcium Channels, N-Type
Cerebellum
Child
Child, Preschool
Female
Humans
Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Migraine Disorders

Mutation, Missense

Neuroimaging

Pedigree

Phenotype

Source

Open in PubMed

Identifiers

PMID: 28007337
DOI: 10.1016/j.ejpn.2016.11.005

Provenance

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