Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome

OBJECTIVE: The aim of this study was to describe the epilepsy phenotype in a large international cohort of patients with KBG syndrome and to study a possible genotype–phenotype correlation. METHODS: We collected data on patients with ANKRD11 variants by contacting University Medical Centers in the N...

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Detalles Bibliográficos
Autores principales: Buijsse, Nathan, Jansen, Floor E., Ockeloen, Charlotte W., van Kempen, Marjan J. A., Zeidler, Shimriet, Willemsen, Marjolein H., Scarano, Emanuela, Monticone, Sonia, Zonneveld‐Huijssoon, Evelien, Low, Karen J., Bayat, Allan, Sisodiya, Sanjay M., Samanta, Debopam, Lesca, Gaetan, de Jong, Danielle, Giltay, Jaqcues C., Verbeek, Nienke E., Kleefstra, Tjitske, Brilstra, Eva H., Vlaskamp, Danique R. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10690702/
https://www.ncbi.nlm.nih.gov/pubmed/37501353
http://dx.doi.org/10.1002/epi4.12799

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