Zonisamide can ameliorate the voltage-dependence alteration of the T-type calcium channel Ca(V)3.1 caused by a mutation responsible for spinocerebellar ataxia

Spinocerebellar ataxia (SCA) 42 is caused by a mutation in CACNA1G, which encodes the low voltage-gated calcium channel Ca(V)3.1 (T-type). Patients with SCA42 exhibit a pure form of cerebellar ataxia. We encountered a patient with the p.Arg1715His mutation, suffering from intractable resting tremor,...

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Vydáno v:Mol Brain
Hlavní autoři: Hara, Naoyuki, Morino, Hiroyuki, Matsuda, Yukiko, Satoh, Kenichi, Hashimoto, Kouichi, Maruyama, Hirofumi, Kawakami, Hideshi
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2020
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7690142/
https://ncbi.nlm.nih.gov/pubmed/33243296
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13041-020-00700-7
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