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Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A.
Miura, Shiroh; Watanabe, Emina; Senzaki, Kensuke; Hiruki, Shigeyoshi; Matsumoto, Sayaka; Morikawa, Takuya; Uchiyama, Yusuke; Kurata, Seiji; Ochi, Masayuki; Ohyagi, Yasumasa; Shibata, Hiroki.
Afiliação
  • Miura S; Department of Neurology and Geriatric Medicine, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime, Japan. shiroh46@m.ehime-u.ac.jp.
  • Watanabe E; Division of Genomics, Medical Institute of Bioregulation, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, Japan.
  • Senzaki K; Department of Neurology and Geriatric Medicine, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime, Japan.
  • Hiruki S; Division of Genomics, Medical Institute of Bioregulation, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, Japan.
  • Matsumoto S; Department of Neurology and Geriatric Medicine, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime, Japan.
  • Morikawa T; Division of Genomics, Medical Institute of Bioregulation, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, Japan.
  • Uchiyama Y; Department of Radiology, Kurume University School of Medicine, 67 Asahi-machi, Kurume, Fukuoka, Japan.
  • Kurata S; Department of Radiology, Kurume University School of Medicine, 67 Asahi-machi, Kurume, Fukuoka, Japan.
  • Ochi M; Department of Neurology and Geriatric Medicine, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime, Japan.
  • Ohyagi Y; Department of Neurology and Geriatric Medicine, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime, Japan.
  • Shibata H; Division of Genomics, Medical Institute of Bioregulation, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, Japan.
Hum Genome Var ; 11(1): 3, 2024 Jan 15.
Article em En | MEDLINE | ID: mdl-38221525
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 identified a novel nonsynonymous variant in CACNA1A, NM_001127222.2c.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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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article