An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A

作者：Epperson Madison V^*; Haws Michael E; Standridge Shannon M; Gilbert Donald L^*

来源：Journal of Child Neurology, 2018, 33(4): 286-289.

DOI：10.1177/0883073818754987

• epilepsy
• epileptic encephalopathy
• genetics

Background: 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.
Patient Description: 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.
Conclusion: CACNA1A mutations should be considered in children presenting with an atypical Rett syndrome phenotype, specifically, the early seizure variant.

• 出版日期2018-3