Novel and de novo mutation of PCDH19 in Girls Clustering Epilepsy

BACKGROUND: PCDH19 has become the second most relevant gene in epilepsy after SCN1A. Seizures often provoked by fever. METHODS: We screened 152 children with fever‐sensitive epilepsy for gene detection. Their clinical information was followed up. RESULTS: We found eight PCDH19 point mutations (four...

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Detalles Bibliográficos
Autores principales: Yang, Li, Liu, Jing, Su, Quanping, Li, Yufen, Yang, Xiaofan, Xu, Liyun, Tong, Lili, Li, Baomin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6908879/
https://www.ncbi.nlm.nih.gov/pubmed/31714027
http://dx.doi.org/10.1002/brb3.1455

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6908879/
https://www.ncbi.nlm.nih.gov/pubmed/31714027
http://dx.doi.org/10.1002/brb3.1455

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