Génétique Médicale & Génomique Fonctionelle

Acute neuro-inflammatory presentation of ATP1A3 variants: Case reports of three patients with different phenotypes

Background ATP1A3 variants are responsible for rare neurological conditions such as Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP), and Cerebellar Ataxia Areflexia Pes Cavus Optic Atrophy and Sensorineural Hearing Loss (CAPOS). Intermediate phe...