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

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

Abstract 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 i...

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Bibliographic Details
Main Authors: Nathan Buijsse, Floor E. Jansen, Charlotte W. Ockeloen, Marjan J. A. vanKempen, Shimriet Zeidler, Marjolein H. Willemsen, Emanuela Scarano, Sonia Monticone, Evelien Zonneveld‐Huijssoon, Karen J. Low, Allan Bayat, Sanjay M. Sisodiya, Debopam Samanta, Gaetan Lesca, Danielle deJong, Jaqcues C. Giltay, Nienke E. Verbeek, Tjitske Kleefstra, Eva H. Brilstra, Danique R. M. Vlaskamp
Format: Article
Language:English
Published: Wiley 2023-12-01
Series:Epilepsia Open
Subjects:
ANKRD11 gene
genotype–phenotype correlation
neurodevelopment
seizure
Online Access:https://doi.org/10.1002/epi4.12799

Internet

https://doi.org/10.1002/epi4.12799

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