Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy
STK结构域中的致病性MAST3变异与癫痫相关
期刊:Ann Neurol
影响因子:8.100
doi:10.1002/ana.26147
Egidio Spinelli # ,Kyle R Christensen # ,Emily Bryant ,Amy Schneider ,Jennifer Rakotomamonjy ,Alison M Muir ,Jessica Giannelli ,Rebecca O Littlejohn ,Elizabeth R Roeder ,Berkley Schmidt ,William G Wilson ,Elysa J Marco ,Kazuhiro Iwama ,Satoko Kumada ,Tiziana Pisano ,Carmen Barba ,Annalisa Vetro ,Eva H Brilstra ,Richard H van Jaarsveld ,Naomichi Matsumoto ,Hadassa Goldberg-Stern ,Patrick W Carney ,P Ian Andrews ,Christelle M El Achkar ,Sam Berkovic ,Lance H Rodan ,Renzo Guerrini ,Ingrid E Scheffer ,Heather C Mefford ,Simone Mandelstam ,Linda Laux ,John J Millichap ,Alicia Guemez-Gamboa ,Angus C Nairn ,Gemma L Carvill