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Article

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

Journal of child neurology - 1 Mar 2018

Epperson Madison V, Haws Michael E, Standridge Shannon M, Gilbert Donald L

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29366381
DOI: 10.1177/0883073818754987
PMCID: PMC5893330

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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