Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature

We investigated seven children from six families to expand the phenotypic spectrum associated with an early infantile epileptic encephalopathy caused by biallelic pathogenic variants in the phosphatidylinositol glycan anchor biosynthesis class Q (PIGQ) gene. The affected children were all identified...

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Detalhes bibliográficos
Publicado no:J Inherit Metab Dis
Main Authors: Johnstone, Devon L., Nguyen, Thi Tuyet Mai, Zambonin, Jessica, Kernohan, Kristin D., St‐Denis, Anik, Baratang, Nissan V., Hartley, Taila, Geraghty, Michael T., Richer, Julie, Majewski, Jacek, Bareke, Eric, Guerin, Andrea, Pendziwiat, Manuela, Pena, Loren D. M., Braakman, Hilde M. H., Gripp, Karen W., Edmondson, Andrew C., He, Miao, Spillmann, Rebecca C., Eklund, Erik A., Bayat, Allan, McMillan, Hugh J., Boycott, Kym M., Campeau, Philippe M.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2020
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7689772/
https://ncbi.nlm.nih.gov/pubmed/32588908
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12278
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