Article

Expansion of the Mutation and Phenotype Spectrum of the GABRA2-related developmental and epileptic encephalopathy78

2024-10-17

Abstract excerpt

<title>Abstract</title> <p>Background Developmental and epileptic encephalopathy 78 is a severe neurological disease characterized by intractable seizures and severe intellectual disability (ID). It was discovered in 2019 as a autosomal dominant genetic disease caused by heterozygous mutation in the <italic>GABRA2</italic> gene(* 137140) which located on chromosome 4p12. So far,only 8 patients with 7 deleterious...

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Literature Corpus work: f1391ebe-356f-5716-9359-fc83cd1d24a5
DOI: 10.21203/rs.3.rs-4773390/v1

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