Case report of a novel PCDH19 frameshift mutation in a girl with epilepsy and mental retardation limited to females

RATIONALE: Epilepsy with mental retardation limited to females (EFMR) is a rare type of X-linked epilepsy disorder, affecting heterozygous females disproportionately. The pathogenesis of EFMR has been identified as mutations in the protocadherin 19 (PCDH19) gene. To data, more than 60 different muta...

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Detalles Bibliográficos
Autores principales: Zhang, Xinying, Chen, Na, Ma, Aihua, Wang, Xueyu, Sun, Wenxiu, Gao, Yuxing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320026/
https://www.ncbi.nlm.nih.gov/pubmed/30572518
http://dx.doi.org/10.1097/MD.0000000000013749

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320026/
https://www.ncbi.nlm.nih.gov/pubmed/30572518
http://dx.doi.org/10.1097/MD.0000000000013749

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