GATAD2B‐related developmental and epileptic encephalopathy (DEE): Extending the epilepsy phenotype and a literature appraisal

Abstract Heterozygous pathogenic variants in GATAD2B gene have been related to the GATAD2B‐associated neurodevelopmental disorders (GAND) characterized by neurodevelopmental delay with predominant language impairment, infantile hypotonia, macrocephaly, ophthalmological abnormalities, and dysmorphic...

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Bibliographic Details
Published in:Epilepsia Open
Main Authors: Giovanna Scorrano, Giulia Barcia, Jérôme Champ, Thomas Courtin, Nathalie Boddaert, Anna Kaminska, Nicole Chemaly, Rima Nabbout
Format: Article
Language:English
Published: Wiley 2025-04-01
Subjects:
epilepsy
GATAD2B
heterozygous variants
neurodevelopmental delay
Online Access:https://doi.org/10.1002/epi4.13133

Internet

https://doi.org/10.1002/epi4.13133

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