Psychomotor development and attention problems caused by a splicing variant of CNKSR2

Psychomotor development and attention problems caused by a splicing variant of CNKSR2

Abstract Background Mutations in CNKSR2 have been described in patients with neurodevelopmental disorders characterized by childhood epilepsy, language deficits, and attention problems. The encoded protein plays an important role in synaptic function. Case presentation Whole-exome sequencing was app...

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Bibliographic Details
Main Authors: Yi Zhang, Tingting Yu, Niu Li, Jiwen Wang, Jian Wang, Yihua Ge, Ruen Yao
Format: Article
Language:English
Published: BMC 2020-12-01
Series:BMC Medical Genomics
Subjects:
CNKSR2
Neurodevelopmental disorder
Splicing variant
Whole exome sequencing
Attention deficit
Online Access:https://doi.org/10.1186/s12920-020-00844-4

Internet

https://doi.org/10.1186/s12920-020-00844-4

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