Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A

Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A

Abstract Autosomal dominant episodic ataxia type 2 (EA2) is caused by variants in CACNA1A. We examined a 20-year-old male with EA symptoms from a Japanese family with hereditary EA. Cerebellar atrophy was not evident, but single photon emission computed tomography showed cerebellar hypoperfusion. We...

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Main Authors: Shiroh Miura, Emina Watanabe, Kensuke Senzaki, Shigeyoshi Hiruki, Sayaka Matsumoto, Takuya Morikawa, Yusuke Uchiyama, Seiji Kurata, Masayuki Ochi, Yasumasa Ohyagi, Hiroki Shibata
Format: Article
Language:English
Published: Nature Publishing Group 2024-01-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-023-00261-w
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https://doi.org/10.1038/s41439-023-00261-w

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