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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
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  • Massive global study aims to crack the code of rare childhood brain disorders

    Knowledge-focused Recruiting now

    This study collects information from 500 children worldwide who have both epilepsy and movement disorders caused by specific gene changes. Researchers will analyze medical records to find patterns linking symptoms to genetics. The goal is to create a shared database that helps do…

    Sponsor: Boston Children's Hospital • Aim: Knowledge-focused

    Last updated Jun 27, 2026 11:02 UTC

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