Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2

Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2

Introduction: Episodic ataxias (EAs) are rare dominantly inherited neurological disorders characterized by recurrent episodes of ataxia lasting minutes to hours. The most common subtype is EA type 2 (EA2) caused by pathogenic variants of calcium voltage-gated channel subunit alpha1 A gene (CACNA1A)...

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Bibliographic Details
Main Authors: Andrea Petrovicova, Miroslav Brozman, Egon Kurca, Tibor Gobo, Jana Dluha, Klaudia Kalmarova, Vladimir Nosal, Martina Hikkelova, Adriana Krajciova, Tatiana Burjanivova, Stefan Sivak
Format: Article
Language:English
Published: Palacký University Olomouc, Faculty of Medicine and Dentistry 2017-03-01
Series:Biomedical Papers
Subjects:
episodic ataxia type 2
novel variant
cacna1a
pore loop
Online Access:https://biomed.papers.upol.cz/artkey/bio-201701-0015_Novel_missense_variant_of_CACNA1A_gene_in_a_Slovak_family_with_episodic_ataxia_type_2.php

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https://biomed.papers.upol.cz/artkey/bio-201701-0015_Novel_missense_variant_of_CACNA1A_gene_in_a_Slovak_family_with_episodic_ataxia_type_2.php

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