Rett syndrome

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Episodic ataxia

Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.\n


Total: 1

                       


(per page)
PMID (PMCID)
29366381
 FEMALE
An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A.
Epperson MV, Haws ME, Standridge SM, Gilbert DL.
J Child Neurol. 2018;33(4):286-289.
Mutations in the P/Q type calcium channel CACNA1A have been implicated in epileptic encephalopathy, familial hemiplegic migraine, episodic ataxia 2, and spinocerebellar ataxia 6, but not Rett syndrome.