Novel Missense CNTNAP2 Variant Identified in Two Consanguineous Pakistani Families With Developmental Delay, Epilepsy, Intellectual Disability, and Aggressive Behavior

We report the genetic analysis of two consanguineous pedigrees of Pakistani ancestry in which two siblings in each family exhibited developmental delay, epilepsy, intellectual disability and aggressive behavior. Whole-genome sequencing was performed in Family 1, and we identified ~80,000 variants lo...

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Detalles Bibliográficos
Autores principales: Badshah, Noor, Mattison, Kari A., Ahmad, Sohail, Chopra, Pankaj, Johnston, H. Richard, Ahmad, Shakoor, Khan, Sher Hayat, Sarwar, Muhammad Tahir, Cutler, David J., Taylor, Micheal, Vadlamani, Gayatri, Zwick, Michael E., Escayg, Andrew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9329621/
https://www.ncbi.nlm.nih.gov/pubmed/35911904
http://dx.doi.org/10.3389/fneur.2022.918022

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9329621/
https://www.ncbi.nlm.nih.gov/pubmed/35911904
http://dx.doi.org/10.3389/fneur.2022.918022

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