PCDH19-Related Epilepsy in Early Onset of Chinese Male Patient: Case Report and Literature Review

Mutations in are associated with epilepsy, intellectual disability and behavioral disturbances, mostly related to females. The unique X-linked pattern of inheritance affects females predominantly, while usually is transmitted through asymptomatic males. Recently, new research has demonstrated that m...

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Bibliographic Details
Published in:Frontiers in neurology 2020-04, Vol.11, p.311
Main Authors: Yang, Xiao, Chen, Jing, Zheng, BiXia, Liu, Xianyu, Cao, Zixuan, Wang, Xiaoyu
Format: Article
Language:English
Subjects:
epilepsy
gene mutation
male
Neurology
PCDH19
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Summary:Mutations in are associated with epilepsy, intellectual disability and behavioral disturbances, mostly related to females. The unique X-linked pattern of inheritance affects females predominantly, while usually is transmitted through asymptomatic males. Recently, new research has demonstrated that males with a mosaic pattern of inheritance could also be affected. As yet, mutations have been reported in hundreds of females; however, only 15 mosaic males were reported to exhibit epileptic seizures with the onset ranges between 6 and 31 months. These patients were usually reported to carry various mutations in the . Here we describe a non-sense variant at the (c.498C>G; p.Y166 ) in the Chinese male that exhibited early developmental delay and frequent seizures starting from the age of 5 months. We aim that this case report, focusing on studying clinical seizures, therapeutic approaches, and the patient's prognosis, will contribute to the cumulative knowledge of this rare and complex genetic disorder.
ISSN:1664-2295
1664-2295
DOI:10.3389/fneur.2020.00311