Hemidystonia with polymicrogyria is part of ATP1A3-related disorders

• Published in: Brain & development (Tokyo. 1979) Vol. 44; no. 8; pp. 567 - 570
• Main Authors: Lacombe, Didier, Van-Gils, Julien, Lebrun, Marine, Trimouille, Aurélien, Michaud, Vincent, Cabet, Sara, Chateil, Jean-François, Pedespan, Jean-Michel, Bar, Claire, Lesca, Gaetan
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.09.2022; Elsevier
• Subjects: ATP1A3; Cerebral malformation; Genetics; Hemidystonia; Life Sciences; Movement disorder; MRI; Polymicrogyria; Polymicrogyria; Cerebral malformation; ATP1A3; Hemidystonia; MRI; Movement disorder; Phenotype; Humans; Dystonic Disorders; Male; Sodium-Potassium-Exchanging ATPase; Dystonia; Mutation

Pathogenic variants in ATP1A3 cause various phenotypes of neurological disorders, including alternating hemiplegia of childhood 2, CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) and rapid-onset dystonia-parkinsonism (RDP). Early developmental...