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

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....

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Detalles Bibliográficos
Autores principales: Kolc, Kristy L, Sadleir, Lynette G, Scheffer, Ingrid E, Ivancevic, Atma, Roberts, Rachel, Pham, Duyen H, Gecz, Jozef
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Expert Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344372/
https://www.ncbi.nlm.nih.gov/pubmed/29892053
http://dx.doi.org/10.1038/s41380-018-0066-9

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