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

• Main Authors: Qingyun Kang (Author), Liming Yang (Author), Hongmei Liao (Author), Sai Yang (Author), Xiaojun Kuang (Author), Zeshu Ning (Author), Caishi Liao (Author), Bo Chen (Author)
• Format: Book
• Published: BMC, 2021-06-01T00:00:00Z.
• Subjects: article
• Online Access: 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...