en
Scientific article
Review
English

Lessons learned from 40 novel PIGA patients and a review of the literature

Published inEpilepsia, vol. 61, no. 6, p. 1142-1155
Publication date2020
Abstract

Objective: To define the phenotypic spectrum of phosphatidylinositol glycan class A protein (PIGA)-related congenital disorder of glycosylation (PIGA-CDG) and evaluate genotype-phenotype correlations. Methods: Our cohort encompasses 40 affected males with a pathogenic PIGA variant. We performed a detailed phenotypic assessment, and in addition, we reviewed the available clinical data of 36 previously published cases and assessed the variant pathogenicity using bioinformatical approaches.

Keywords
  • Adult
  • Amino Acid Sequence
  • Child
  • Cohort Studies
  • Electroencephalography/methods
  • Facies
  • Genetic Variation/genetics
  • Hernia, Diaphragmatic/diagnostic imaging/genetics/physiopathology
  • Humans
  • Infant, Newborn
  • Limb Deformities, Congenital/diagnostic imaging/genetics/physiopathology
  • Magnetic Resonance Imaging/methods
  • Male
  • Membrane Proteins/genetics
Citation (ISO format)
BAYAT, Allan et al. Lessons learned from 40 novel <i>PIGA</i> patients and a review of the literature. In: Epilepsia, 2020, vol. 61, n° 6, p. 1142–1155. doi: 10.1111/epi.16545
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Article (Published version)
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ISSN of the journal0013-9580
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