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

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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Bibliographic Details
Main Authors: Noor Badshah, Kari A. Mattison, Sohail Ahmad, Pankaj Chopra, H. Richard Johnston, Shakoor Ahmad, Sher Hayat Khan, Muhammad Tahir Sarwar, David J. Cutler, Micheal Taylor, Gayatri Vadlamani, Michael E. Zwick, Andrew Escayg
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-07-01
Series:Frontiers in Neurology
Subjects:
epilepsy genetics
CNTNAP2
Afridi tribe
Pakistan
autosomal recessive
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2022.918022/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2022.918022/full

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