Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A.
Miura S, Watanabe E, Senzaki K, Hiruki S, Matsumoto S, Morikawa T, Uchiyama Y, Kurata S, Ochi M, Ohyagi Y, Shibata H.
Miura S, et al. Among authors: senzaki k.
Hum Genome Var. 2024 Jan 15;11(1):3. doi: 10.1038/s41439-023-00261-w.
Hum Genome Var. 2024.
PMID: 38221525
Free PMC article.