%0 Journal Article
%T An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A
%A Donald L. Gilbert
%A Madison V. Epperson
%A Michael E. Haws
%A Shannon M. Standridge
%J Journal of Child Neurology
%@ 1708-8283
%D 2018
%R 10.1177/0883073818754987
%X Some typical and atypical Rett syndrome patients lack known genetic mutations. 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. The authors describe a female patient with developmental regression and a de novo, likely pathogenic mutation in CACNA1A who meets 3 of 4 main criteria (stereotypic hand movements, loss of purposeful hand movements, gait disturbance), and 6 of 11 supportive criteria (impaired sleep, abnormal tone, vasomotor disturbance, scoliosis, growth retardation, and screaming spells) for atypical Rett syndrome. Furthermore, she resembles the early seizure variant of Rett syndrome. Previously, 3 children with similar CACNA1A mutations have been reported, but a Rett syndrome phenotype has not been described. CACNA1A mutations should be considered in children presenting with an atypical Rett syndrome phenotype, specifically, the early seizure variant
%K epilepsy
%K epileptic encephalopathy
%K genetics
%U https://journals.sagepub.com/doi/full/10.1177/0883073818754987