The phenotypic spectrum of X‐linked, infantile onset ALG13‐related developmental and epileptic encephalopathy

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 tran...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Full‐length Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7898319/
https://www.ncbi.nlm.nih.gov/pubmed/33410528
http://dx.doi.org/10.1111/epi.16761

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