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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Brain Behav
Prif Awduron: Yang, Li, Liu, Jing, Su, Quanping, Li, Yufen, Yang, Xiaofan, Xu, Liyun, Tong, Lili, Li, Baomin
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2019
Pynciau:
Original Research
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6908879/
https://ncbi.nlm.nih.gov/pubmed/31714027
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/brb3.1455
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