Molecular and clinical descriptions of patients with GABA(A) receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation
GABA(A)受体基因变异(GABRA1、GABRB2、GABRB3、GABRG2)患者的分子和临床特征:队列研究、文献综述及基因型-表型相关性分析
期刊:Epilepsia
影响因子:6.6
doi:10.1111/epi.17336
Maillard, Pierre-Yves; Baer, Sarah; Schaefer, Élise; Desnous, Béatrice; Villeneuve, Nathalie; Lépine, Anne; Fabre, Alexandre; Lacoste, Caroline; El Chehadeh, Salima; Piton, Amélie; Porter, Louise Frances; Perriard, Caroline; Wardé, Marie-Thérèse Abi; Spitz, Marie-Aude; Laugel, Vincent; Lesca, Gaëtan; Putoux, Audrey; Ville, Dorothée; Mignot, Cyril; Héron, Delphine; Nabbout, Rima; Barcia, Giulia; Rio, Marlène; Roubertie, Agathe; Meyer, Pierre; Paquis-Flucklinger, Véronique; Patat, Olivier; Lefranc, Jérémie; Gerard, Marion; de Bellescize, Julietta; Villard, Laurent; De Saint Martin, Anne; Milh, Mathieu