A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a paediatric case report

A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a paediatric case report

Abstract Background Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of chronic encephalopathies characterized by epilepsy with comorbid intellectual disability that are frequently associated with de novo nonsynonymous coding variants in ion channels, cell-surface recept...

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Bibliographic Details
Main Authors: Qingyun Kang, Liming Yang, Hongmei Liao, Sai Yang, Xiaojun Kuang, Zeshu Ning, Caishi Liao, Bo Chen
Format: Article
Language:English
Published: BMC 2021-06-01
Series:BMC Pediatrics
Subjects:
TRPM3
DEE
Seizure
Video-EEG
Case report
Online Access:https://doi.org/10.1186/s12887-021-02719-8

Internet

https://doi.org/10.1186/s12887-021-02719-8

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