Seizures in Sotos syndrome: Phenotyping in 49 patients

We aimed to describe the phenotypic spectrum of seizures in Sotos syndrome, a genetic condition involving overgrowth, macrocephaly, dysmorphic features, and learning disability, in which 60%‐90% have NSD1 pathogenic variants. Patients were recruited from clinics and referral from support groups. Tho...

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Detalles Bibliográficos
Autores principales: Fortin, Olivier, Vincelette, Christian, Khan, Afsheen Q., Berrahmoune, Saoussen, Dassi, Christelle, Karimi, Mitra, Scheffer, Ingrid E., Lu, Jun, Davis, Kellie, Myers, Kenneth A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Short Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8166795/
https://www.ncbi.nlm.nih.gov/pubmed/34033256
http://dx.doi.org/10.1002/epi4.12484

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8166795/
https://www.ncbi.nlm.nih.gov/pubmed/34033256
http://dx.doi.org/10.1002/epi4.12484

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