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

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

The <i>CACNA1A</i> gene encodes the pore-forming α<sub>1A</sub> subunit of the voltage-gated Ca<sub>V</sub>2.1 Ca<sup>2+</sup> channel, essential in neurotransmission, especially in Purkinje cells. Mutations in <i>CACNA1A</i> result in grea...

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Bibliographic Details
Main Authors: Antonio F. Martínez-Monseny, Albert Edo, Dídac Casas-Alba, Mercè Izquierdo-Serra, Mercè Bolasell, David Conejo, Loreto Martorell, Jordi Muchart, Laura Carrera, Carlos I. Ortez, Andrés Nascimento, Baldo Oliva, José M. Fernández-Fernández, Mercedes Serrano
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:International Journal of Molecular Sciences
Subjects:
ataxia
cerebellar atrophy
dysmorphic traits
early-onset cerebellar ataxia
<i>CACNA1A</i> gene
Ca<sub>V</sub>2.1 (P/Q-type) voltage-dependent calcium channel
Online Access:https://www.mdpi.com/1422-0067/22/10/5180

Internet

https://www.mdpi.com/1422-0067/22/10/5180

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