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

• Hoofdauteurs: Qingyun Kang (Auteur), Liming Yang (Auteur), Hongmei Liao (Auteur), Sai Yang (Auteur), Xiaojun Kuang (Auteur), Zeshu Ning (Auteur), Caishi Liao (Auteur), Bo Chen (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2021-06-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

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...