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ATP1A3-associated neurological disorder

MONDO:0700002

Any neurological disorder in which the cause of the disease is a mutation in the ATP1A3.

Also known as: ATP1A3 neurological disorder, ATP1A3 related neurological disorder, neurological disorder caused by mutation in ATP1A3

2 clinical trials for this condition and its sub-types.

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Sub-types

Dystonia 12 (2) Alternating hemiplegia of childhood 2 (0) Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome (0) Developmental and epileptic encephalopathy 99 (0)

Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Human disease (14) Hereditary neurological disease (5) Disease of genetic or genomic mechanism (2) Disease by body system or component (0) Disease by etiologic mechanism (0)

Trials to join now! 1 Not yet finished but already full! 1

Scientists track rare dystonia to map its genetic roots

Knowledge-focused Ongoing

This study is observing up to 198 people with rapid-onset dystonia-parkinsonism (RDP) or related genetic mutations. Researchers aim to identify affected individuals, document how common the disease is, and track its progression over time. Participants undergo assessments of sympt…

Sponsor: State University of New York at Buffalo • Aim: Knowledge-focused

Last updated Jun 27, 2026 12:29 UTC