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Hemidystonia with polymicrogyria is part of ATP1A3-related disorders.

Brain & development - 1 Sept 2022

Lacombe Didier, Van-Gils Julien, Lebrun Marine, Trimouille Aurélien, Michaud Vincent, Cabet Sara, Chateil Jean-François, Pedespan Jean-Michel, Bar Claire, Lesca Gaetan

Abstract excerpt

INTRODUCTION: 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 and epileptic encephalopathy has also been reported. Polymicrogyria has recently been added to the...

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PMID: 35623960
DOI: 10.1016/j.braindev.2022.05.001

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