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Article

[Clinical phenotypes of TBC1D24 gene related epilepsy].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Sept 2018

Zhang J, 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

Abstract excerpt

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, and the features of clinical manifestations, electroencephalogram, and neuroimaging were analyzed. Results: Eighteen...

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Identifiers

PMID: 30180405
DOI: 10.3760/cma.j.issn.0578-1310.2018.09.007

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