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

International journal of molecular sciences - 13 May 2021

Martínez-Monseny Antonio F, Edo Albert, Casas-Alba Dídac, Izquierdo-Serra Mercè, Bolasell Mercè, Conejo David, Martorell Loreto, Muchart Jordi, Carrera Laura, Ortez Carlos I, Nascimento Andrés, Oliva Baldo, Fernández-Fernández José M, Serrano Mercedes

Abstract excerpt

The CACNA1A gene encodes the pore-forming α1A subunit of the voltage-gated CaV2.1 Ca2+ channel, essential in neurotransmission, especially in Purkinje cells. Mutations in CACNA1A result in great clinical heterogeneity with progressive symptoms, paroxysmal events or both. During infancy, clinical and neuroimaging findings may be unspecific, and no dysmorphic features have been reported. We present the clinical,...

Topics

Adult
Amino Acid Sequence
Ataxia
Calcium Channels
Child
Female
Humans
Male
Mutation
Neuroimaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Protein Conformation

Sequence Homology

Structure-Activity Relationship

Young Adult

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Open in PubMed Open full text

Identifiers

PMID: 34068417
DOI: 10.3390/ijms22105180
PMCID: PMC8153625

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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