A case report of microcephaly and refractory West syndrome associated with WDR62 mutation

A case report of microcephaly and refractory West syndrome associated with WDR62 mutation

Abstract The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by microcephaly with variable degree of intellectual disability. WDR62 has been reported as the second causative gene of MCPH2. West syndrome is a severe epilepsy syndrome composed of the triad of s...

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Bibliographic Details
Main Authors: Ping Zhou, Xin Ding, Qi Zeng, Huafang Zou, Jianxiang Liao, Dezhi Cao
Format: Article
Language:English
Published: BMC 2020-03-01
Series:Acta Epileptologica
Subjects:
Autosomal recessive primary microcephaly 2
WDR62
West syndrome
Refractory epilepsy
Online Access:http://link.springer.com/article/10.1186/s42494-020-00012-2

Internet

http://link.springer.com/article/10.1186/s42494-020-00012-2

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