Two novel heterozygous variants in ATP1A3 cause movement disorders

Variants in ATP1A3 cause neuropsychiatric disorders, especially those characterized by movement disorders. In this study, we performed whole exome sequencing for two patients with movement disorders and identified two novel heterozygous ATP1A3 variants, a missense c.2408G>A variant and an indel c...

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Detalles Bibliográficos
Autores principales: Furukawa, Shogo, Miyamoto, Sachiko, Fukumura, Shinobu, Kubota, Kazuo, Taga, Toshiaki, Nakashima, Mitsuko, Saitsu, Hirotomo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8857201/
https://www.ncbi.nlm.nih.gov/pubmed/35181663
http://dx.doi.org/10.1038/s41439-022-00184-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8857201/
https://www.ncbi.nlm.nih.gov/pubmed/35181663
http://dx.doi.org/10.1038/s41439-022-00184-y

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