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...
Main Authors: | , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2022-12-01
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Series: | Children |
Subjects: | |
Online Access: | https://www.mdpi.com/2227-9067/9/12/1967 |