Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants
与GABRB2功能获得性和功能丧失性变异相关的独特神经发育和癫痫表型
期刊:EBioMedicine
影响因子:10.8
doi:10.1016/j.ebiom.2024.105236
Mohammadi, Nazanin Azarinejad; Ahring, Philip Kiær; Yu Liao, Vivian Wan; Chua, Han Chow; Ortiz de la Rosa, Sebastián; Johannesen, Katrine Marie; Michaeli-Yossef, Yael; Vincent-Devulder, Aline; Meridda, Catherine; Bruel, Ange-Line; Rossi, Alessandra; Patel, Chirag; Klepper, Joerg; Bonanni, Paolo; Minghetti, Sara; Trivisano, Marina; Specchio, Nicola; Amor, David; Auvin, Stéphane; Baer, Sarah; Meyer, Pierre; Milh, Mathieu; Salpietro, Vincenzo; Maroofian, Reza; Lemke, Johannes R; Weckhuysen, Sarah; Christophersen, Palle; Rubboli, Guido; Chebib, Mary; Jensen, Anders A; Absalom, Nathan L; Møller, Rikke Steensbjerre
