Article
Lessons learned from 40 novel PIGA patients and a review of the literature.
Epilepsia - 1 Jun 2020
Bayat Allan, Knaus Alexej, Pendziwiat Manuela, Afenjar Alexandra, Barakat Tahsin Stefan, Bosch Friedrich, Callewaert Bert, Calvas Patrick, Ceulemans Berten, Chassaing Nicolas, Depienne Christel, Endziniene Milda, Ferreira Carlos R, Moura de Souza Carolina Fischinger, Freihuber Cécile, Ganesan Shiva, Gataullina Svetlana, Guerrini Renzo, Guerrot Anne-Marie, Hansen Lars, Jezela-Stanek Aleksandra, Karsenty Caroline, Kievit Anneke, Kooy Frank R, Korff Christian M, Kragh Hansen Johanne, Larsen Martin, Layet Valérie, Lesca Gaetan, McBride Kim L, Meuwissen Marije, Mignot Cyril, Montomoli Martino, Moore Hannah, Naudion Sophie, Nava Caroline, Nougues Marie-Christine, Parrini Elena, Pastore Matthew, Schelhaas Jurgen H, Skinner Steven, Szczałuba Krzysztoł, Thomas Ashley, Thomassen Mads, Tranebjaerg Lisbeth, van Slegtenhorst Marjon, Wolfe Lynne A, Lal Dennis, Gardella Elena, Bomme Ousager Lilian, Brünger Tobias, Helbig Ingo, Krawitz Peter, Møller Rikke S
Abstract excerpt
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...
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