B. Degos

Paroxysmal Kinesigenic Dyskinesia and Progressive Ataxia‐Spasticity Syndrome Caused by a Biallelic Variant in KCNJ10

Biallelic KCNJ10 variants, encoding the Kir4.1 potassium channel, can cause cerebellar ataxia variably associated with intellectual disability, renal tubulopathy, sensorineural hearing loss and epilepsy (EAST or SeSAME syndrome, MIM:612780). 1,2 The predominant movement disorder, cerebellar ataxia, is typically non-pro...