Early infantile epileptic encephalopathy due to biallelic pathogenic variants inPIGQ: 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. EklundAllan Bayat, Hugh J. McMillan, Kym M. Boycott*, Philippe M. Campeau*

*Corresponding author for this work

Research output: Contribution to journalReview articleAcademicpeer-review

Original languageEnglish
Pages (from-to)1321-1332
Number of pages12
JournalJournal of Inherited Metabolic Disease
Volume43
Issue number6
Early online date3 Aug 2020
DOIs
Publication statusPublished - Nov 2020

Keywords

  • epileptic encephalopathy
  • exome sequencing
  • GPI
  • IGD
  • PIGQ
  • rare diseases
  • 1ST STEP
  • GLYCOSYLPHOSPHATIDYLINOSITOL
  • BIOSYNTHESIS
  • SEIZURES
  • GENE
  • HYPERPHOSPHATASIA
  • DISORDERS
  • MUTATIONS
  • DEFECTS

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