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Article

A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity.

Molecular psychiatry - 1 Feb 2019

Kolc Kristy L, Sadleir Lynette G, Scheffer Ingrid E, Ivancevic Atma, Roberts Rachel, Pham Duyen H, Gecz Jozef

Abstract excerpt

Epilepsy and Mental Retardation Limited to Females (EFMR) is an infantile onset disorder characterized by clusters of seizures. EFMR is due to mutations in the X-chromosome gene PCDH19, and is underpinned by cellular mosaicism due to X-chromosome inactivation in females or somatic mutation in males. This review characterizes the neuropsychiatric profile of this disorder and examines the association of clinical...

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Identifiers

PMID: 29892053
DOI: 10.1038/s41380-018-0066-9
PMCID: PMC6344372

Genes

PCDH19

Variants

Provenance

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