Publication
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in
PIGQ
: Report of seven new subjects and review of the literature
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
Journal of Inherited Metabolic Disease, August 2020, Wiley
DOI: 10.1002/jimd.12278