HIGHLIGHTS
- who: Shogo Furukawa from the Department Hamamatsu University Hospital, Gifu, Japan have published the article: Two novel heterozygous variants in ATP1A3 cause movement disorders, in the Journal: (JOURNAL) of 15/Nov/2021
- what: The authors report two novel variants in ATP1A3 (NM_152296.5) found in patients with movement disorders.
SUMMARY
The authors report two novel variants in ATP1A3 (NM_152296.5) found in patients with movement disorders. Biochemical analysis and electroencephalogram (EEG) examination were normal. His mother and maternal grandfather also developed mild adult onset dystonia of the upper extremities at approximately . . .
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