Back to Search Start Over

Molecular and clinical descriptions of patients with GABA

Authors :
Pierre-Yves, Maillard
Sarah, Baer
Élise, Schaefer
Béatrice, Desnous
Nathalie, Villeneuve
Anne, Lépine
Alexandre, Fabre
Caroline, Lacoste
Salima, El Chehadeh
Amélie, Piton
Louise Frances, Porter
Caroline, Perriard
Marie-Thérèse Abi, Wardé
Marie-Aude, Spitz
Vincent, Laugel
Gaëtan, Lesca
Audrey, Putoux
Dorothée, Ville
Cyril, Mignot
Delphine, Héron
Rima, Nabbout
Giulia, Barcia
Marlène, Rio
Agathe, Roubertie
Pierre, Meyer
Véronique, Paquis-Flucklinger
Olivier, Patat
Jérémie, Lefranc
Marion, Gerard
Julietta, de Bellescize
Laurent, Villard
Anne, De Saint Martin
Mathieu, Milh
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