Developmental and Epileptic Encephalopathy 76: Case Report and Review of Literature

• Hoofdauteurs: Xiaodi Han (Auteur), Jie Deng (Auteur), Chunhong Chen (Auteur), Xiaohui Wang (Auteur), Fang Fang (Auteur), Hua Li (Auteur), Jie Luo (Auteur), Jie Wu (Auteur)
• Formaat: Boek
• Gepubliceerd in: MDPI AG, 2022-12-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Previous studies have suggested that the ACTL6B monoallelic variant is responsible for an autosomal dominant inherited intellectual developmental disorder with severe speech and ambulation deficits. The clinical phenotype of developmental and epileptic encephalopathy type 76 (DEE76) due to ACTL6B bi...