Clinical phenotypes of TBC1D24 gene related epilepsy

Objective: To summarize the clinical features of TBC1D24 gene mutations associated with epilepsy. Methods: All the patients with TBC1D24 gene compound heterozygous mutations were retrospectively collected at the Pediatric Department of Peking University First Hospital from March 2015 to July 2017, a...

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Publié dans:	Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 56(2018), 9 vom: 02. Sept., Seite 667-673
Auteur principal:	Zhang, J (Auteur)
Autres auteurs:	Zhang, Y H, Chen, J Y, Zhang, L P, Zeng, Q, Tian, X J, Yang, Z X, Wu, Y, Yang, X L, Wu, X R
Format:	Article en ligne
Langue:	Chinese
Publié:	2018
Accès à la collection:	Zhonghua er ke za zhi = Chinese journal of pediatrics
Sujets:	Journal Article Epilepsy Genes Hearing disorders Myoclonus TBC1D24 Carrier Proteins GTPase-Activating Proteins Membrane Proteins Nerve Tissue Proteins TBC1D24 protein, human