Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway
LGI1 和 ADAM23 的双等位基因变异通过 LGI1-ADAM22/23 通路导致海马癫痫性脑病。
期刊:Brain
影响因子:11.7
doi:10.1093/brain/awaf202
Hirano, Yoko; Miyazaki, Yuri; Ishikawa, Daisuke; Inahashi, Hiroki; Al-Hassnan, Zuhair Nasser; Zifarelli, Giovanni; Bauer, Peter; Alvi, Javeria Raza; Sultan, Tipu; Thompson, Michelle L; Sezer, Abdullah; Konuşkan, Bahadır; Hajir, Razan S; El-Hattab, Ayman W; Efthymiou, Stephanie; Ishida, Ayuki; Yokoi, Norihiko; Kornau, Hans-Christian; Schmitz, Dietmar; Prüss, Harald; Houlden, Henry; Ikegaya, Yuji; Fukata, Yuko; Fukata, Masaki; Maroofian, Reza