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Molecular and clinical descriptions of patients with GABA
- Source :
- EpilepsiaREFERENCES. 63(10)
- Publication Year :
- 2022
-
Abstract
- γ-Aminobutyric acid (GABA)We collected clinical, electrophysiological, therapeutic, and molecular data from patients with GABAWe gathered the reported patients in three epileptic phenotypes: 15 patients with fever-related epilepsy (40%), 11 with early developmental epileptic encephalopathy (30%), 10 with generalized epilepsy spectrum (27%), and 1 patient without seizures (3%). We did not find a specific phenotype for any gene, but we showed that the location of variants on the transmembrane (TM) segment was associated with a more severe phenotype, irrespective of the GABAGABA
Details
- ISSN :
- 15281167
- Volume :
- 63
- Issue :
- 10
- Database :
- OpenAIRE
- Journal :
- EpilepsiaREFERENCES
- Accession number :
- edsair.pmid..........06cb7b9d7c7192c6750e67d326e49040