Pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy

Objective: To identify the pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy (PME). Methods: In this cross-sectional study, 26 PME children (11 boys and 15 girls) sent to neurological outpatient clinics and admitted to wards of the Department...

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Veröffentlicht in:	Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 57(2019), 6 vom: 02. Juni, Seite 458-464
1. Verfasser:	Zhang, J (VerfasserIn)
Weitere Verfasser:	Zhang, Y H, Chen, J Y, Ji, T Y, Yang, Z X, Yang, X L, Sun, W, Zhang, L P, Wu, X R
Format:	Online-Aufsatz
Sprache:	Chinese
Veröffentlicht:	2019
Zugriff auf das übergeordnete Werk:	Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:	Journal Article Genes Myoclonic epilepsies, progressive Myoclonus Carrier Proteins GTPase-Activating Proteins KCNC1 protein, human KCTD7 protein, human Membrane Proteins Nerve Tissue Proteins mehr... Potassium Channels Shaw Potassium Channels TBC1D24 protein, human Tripeptidyl-Peptidase 1 TPP1 protein, human EC 3.4.14.9