Article
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
Epilepsia - 1 Feb 2021
Datta Alexandre N, Bahi-Buisson Nadia, Bienvenu Thierry, Buerki Sarah E, Gardiner Fiona, Cross J Helen, Heron Bénédicte, Kaminska Anna, Korff Christian M, Lepine Anne, Lesca Gaetan, McTague Amy, Mefford Heather C, Mignot Cyrill, Milh Matthieu, Piton Amélie, Pressler Ronit M, Ruf Susanne, Sadleir Lynette G, de Saint Martin Anne, Van Gassen Koen, Verbeek Nienke E, Ville Dorothée, Villeneuve Nathalie, Zacher Pia, Scheffer Ingrid E, Lemke Johannes R
Abstract excerpt
OBJECTIVE: Asparagine-linked glycosylation 13 (ALG13) deficiencies have been repeatedly described in the literature with the clinical phenotype of a developmental and epileptic encephalopathy (DEE). Most cases were females carrying the recurrent ALG13 de novo variant, p.(Asn107Ser), with normal transferrin electrophoresis. METHODS: We delineate the phenotypic spectrum of 38 individuals, 37 girls and one boy, 16...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.