A de novo variant in the X‐linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient

BACKGROUND: Eight different deletions and point variants of the X‐chromosomal gene CNKSR2 have been reported in families with males presenting intellectual disability (ID) and epilepsy. Obligate carrier females with a frameshift variant in the N‐terminal protein coding part of CNKSR2 or with a delet...

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Detalles Bibliográficos
Autores principales: Polla, Daniel L., Saunders, Harriet R., de Vries, Bert B. A., van Bokhoven, Hans, de Brouwer, Arjan P. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785448/
https://www.ncbi.nlm.nih.gov/pubmed/31414730
http://dx.doi.org/10.1002/mgg3.861

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