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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Vydáno v:Epilepsia
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2021
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Full‐length Original Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7898319/
https://ncbi.nlm.nih.gov/pubmed/33410528
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/epi.16761
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