TY - JOUR
T1 - Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A
AU - Miura, Shiroh
AU - Watanabe, Emina
AU - Senzaki, Kensuke
AU - Hiruki, Shigeyoshi
AU - Matsumoto, Sayaka
AU - Morikawa, Takuya
AU - Uchiyama, Yusuke
AU - Kurata, Seiji
AU - Ochi, Masayuki
AU - Ohyagi, Yasumasa
AU - Shibata, Hiroki
N1 - Publisher Copyright:
© 2024, The Author(s).
PY - 2024/12
Y1 - 2024/12
N2 - 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 identified a novel nonsynonymous variant in CACNA1A, NM_001127222.2:c.1805T>G (p.Leu602Arg), which is predicted to be functionally deleterious; therefore, this variant is likely responsible for EA2 in this pedigree.
AB - 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 identified a novel nonsynonymous variant in CACNA1A, NM_001127222.2:c.1805T>G (p.Leu602Arg), which is predicted to be functionally deleterious; therefore, this variant is likely responsible for EA2 in this pedigree.
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U2 - 10.1038/s41439-023-00261-w
DO - 10.1038/s41439-023-00261-w
M3 - Article
AN - SCOPUS:85182498585
SN - 2054-345X
VL - 11
JO - Human Genome Variation
JF - Human Genome Variation
IS - 1
M1 - 3
ER -