Ultra-rare biallelic THAP12 variants cause loss of function and underlie severe epileptic encephalopathy
极其罕见的THAP12双等位基因变异会导致功能丧失,并引发严重的癫痫性脑病。
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doi:10.64898/2026.02.27.26347078
Ochenkowska, Katarzyna; Rampal, Bryce; Légaré, Antoine; Triassi, Valérie; Audet, Sébastien; Brisson, Alexandre; Bernas, Guillaume; Liao, Meijiang; da Silva Babinet, Alexandra; Pilliod, Julie; Gillaspie, Mariah; VanNoy, Grace E; Pais, Lynn; O'Donnell-Luria, Anne; Leclerc, Nicole; Walleigh, Diana; Schmouth, Jean-François; Cappadocia, Laurent; Desrosiers, Patrick; De Koninck, Paul; Tétreault, Martine; Samarut, Éric