Total: 1 |
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PMID (PMCID) | ||
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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. |
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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. |