Diversity of CACNA1A-related disorders

Rudenskaya G.E.

Bochkov Research Centre for Medical Genetics

ORCID: 0000-0002-8244-9367

Sermyagina I.G.

Research Centre for Medical Genetics

Chukhrova A.L.

Research Centre for Medical Genetics

Dadali E.L.

Research Centre for Medical Genetics

Lozier E.R.

Genomed Ltd;
Laboratory of Clinical Bioinformatics

Shchagina O.A.

Research Centre for Medical Genetics

Diversity of CACNA1A-related disorders

Authors:

Rudenskaya G.E., Sermyagina I.G., Chukhrova A.L., Dadali E.L., Lozier E.R., Shchagina O.A.

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Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2021;121(12): 106‑111

DOI: 10.17116/jnevro2021121121106

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To cite this article:

Rudenskaya GE, Sermyagina IG, Chukhrova AL, Dadali EL, Lozier ER, Shchagina OA. Diversity of CACNA1A-related disorders. S.S. Korsakov Journal of Neurology and Psychiatry. 2021;121(12):106‑111. (In Russ.)
https://doi.org/10.17116/jnevro2021121121106

Подписка 2025-2 (S.S. Korsakov Journal of Neurology and Psychiatry)

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Four cases of autosomal dominant CNS disorders related to CACNA1A mutations and detected by massive parallel sequencing are reported: a non-familial case of episodic ataxia type 2 (EA2) with the previously reported mutation c.269_270insA (p.Tyr90Ter) in a 35-year-old man; familial hemiplegic migraine type 1 (FHM1) in a girl aged 3 years 10 months and her mother aged 38 yrs with a novel mutation 1829C>T (p.Ser610Phe), members of a family with 4 patients and incomplete penetrance; developmental and epileptic encephalopathy 42 (DEE42) in a 9-year-old girl and a 5-year-old boy from different families with the identical de novo mutation c.2137G>A (p.Ala713Thr) reported earlier. Clinical and genetic characteristics are analyzed compared to literature.

Keywords:

gene CACNA1A

mutations

episodic ataxia 2 EA2

familial hemiplegic migraine 1 FHM1

developmental and epileptic encephalopathy 42

massive parallel sequencing MPS

Authors:

Rudenskaya G.E.

Bochkov Research Centre for Medical Genetics

ORCID: 0000-0002-8244-9367

Sermyagina I.G.

Research Centre for Medical Genetics

Chukhrova A.L.

Research Centre for Medical Genetics

Dadali E.L.

Research Centre for Medical Genetics

Lozier E.R.

Genomed Ltd;
Laboratory of Clinical Bioinformatics

Shchagina O.A.

Research Centre for Medical Genetics

Received:

10.08.2021

Accepted:

12.08.2021

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