Novel missense variant of CACNA1A gene: A case report of a family with episodic ataxia type 2

Štefan Sivák; Egon Kurča; Adriána Krajčiová; Martina Hikkelová; Juraj Šimko; Nadežda Mišovicová; Ema Kantorová; Monika Turčanová-Koprušáková; Tatiana Burjanivová; Daniel Čierny; Vladimír Nosál'

doi:10.1016/j.jns.2017.03.008

Novel missense variant of CACNA1A gene: A case report of a family with episodic ataxia type 2

J Neurol Sci. 2017 May 15:376:119-120. doi: 10.1016/j.jns.2017.03.008. Epub 2017 Mar 11.

Affiliations

¹ Clinic of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Kollárova 2, 03659 Martin, Slovak Republic. Electronic address: sivak@jfmed.uniba.sk.
² Clinic of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Kollárova 2, 03659 Martin, Slovak Republic. Electronic address: kurca@unm.sk.
³ Laboratory of Medical Genetics, Alpha Medical, s.r.o, Radlinského 9, 81000 Bratislava, Slovak Republic. Electronic address: Krajciova.Adriana@alphamedical.sk.
⁴ Laboratory of Medical Genetics, Alpha Medical, s.r.o, Radlinského 9, 81000 Bratislava, Slovak Republic. Electronic address: Hikkelova.Martina@alphamedical.sk.
⁵ Laboratory of Medical Genetics, Alpha Medical, s.r.o, Radlinského 9, 81000 Bratislava, Slovak Republic. Electronic address: simko.juraj@alphamedical.sk.
⁶ M-Genetik, s.r.o, Pavla Mudroňa 504/7, 03601 Martin, Slovak Republic. Electronic address: mgenetik@zoznam.sk.
⁷ Clinic of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Kollárova 2, 03659 Martin, Slovak Republic. Electronic address: kantorova@jfmed.uniba.sk.
⁸ Clinic of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Kollárova 2, 03659 Martin, Slovak Republic. Electronic address: koprusakova@jfmed.uniba.sk.
⁹ Department of Molecular Biology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Mala Hora 4b, 03659 Martin, Slovak Republic. Electronic address: btatiana@seznam.cz.
¹⁰ Department of Clinical Biochemistry, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Kollárova 2, 03659 Martin, Slovak Republic. Electronic address: cierny@jfmed.uniba.sk.
¹¹ Clinic of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Kollárova 2, 03659 Martin, Slovak Republic. Electronic address: nosal@jfmed.uniba.sk.

PMID: 28431595
DOI: 10.1016/j.jns.2017.03.008

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Ataxia / genetics*
Ataxia / physiopathology
Calcium Channels / genetics*
Family
Humans
Male
Mutation, Missense*
Nystagmus, Pathologic / genetics*
Nystagmus, Pathologic / physiopathology
Pedigree
Young Adult

Substances

CACNA1A protein, human
Calcium Channels

Supplementary concepts

Episodic Ataxia, Type 2