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

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

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...

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Bibliographic Details
Main Authors: Xiaodi Han, Jie Deng, Chunhong Chen, Xiaohui Wang, Fang Fang, Hua Li, Jie Luo, Jie Wu
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:Children
Subjects:
early-onset epileptic encephalopathy
developmental and epileptic encephalopathy type 76
ACTL6B
genetic testing
Online Access:https://www.mdpi.com/2227-9067/9/12/1967

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