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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Xehetasun bibliografikoak
Argitaratua izan da:J Inherit Metab Dis
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley & Sons, Inc. 2020
Gaiak:
Original Articles
Sarrera elektronikoa: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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