Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature
由PIGQ基因双等位致病变异引起的早期婴儿癫痫性脑病:7例新病例报告及文献综述
期刊:J Inherit Metab Dis
影响因子:4.200
doi:10.1002/jimd.12278
Devon L Johnstone ,Thi Tuyet Mai Nguyen ,Jessica Zambonin ,Kristin D Kernohan ,Anik St-Denis ,Nissan V Baratang ,Taila Hartley ,Michael T Geraghty ,Julie Richer ,Jacek Majewski ,Eric Bareke ,Andrea Guerin ,Manuela Pendziwiat ,Loren D M Pena ,Hilde M H Braakman ,Karen W Gripp ,Andrew C Edmondson ,Miao He ,Rebecca C Spillmann ,Erik A Eklund ,Allan Bayat ,Hugh J McMillan ,Kym M Boycott ,Philippe M Campeau