Absent CNKSR2 causes seizures and intellectual, attention, and language deficits.

Abstract

Synaptic function is central to brain function. Understanding the synapse is aided by studies of patients lacking individual synaptic proteins. Common neurological diseases are genetically complex. Their understanding is likewise simplified by studies of less common monogenic forms. We detail the disease caused by absence of the synaptic protein CNKSR2 in 8 patients ranging from 6 to 62 years old. The disease is characterized by intellectual disability, attention problems, and abrupt lifelong language loss following a brief early childhood epilepsy with continuous spike-waves in sleep. This study describes the phenotype of CNKSR2 deficiency and its involvement in systems underlying common neurological disorders.

DOI: 10.1002/ana.24274
050201520162017
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@article{Vaags2014AbsentCC, title={Absent CNKSR2 causes seizures and intellectual, attention, and language deficits.}, author={Andrea K. Vaags and Sarah Bowdin and M Smith and Brigitte Gilbert-Dussardier and Katja S Brocke-Holmefjord and Katia Joanne Sinopoli and Cindy Gilles and Tove B. Haaland and Catherine Vincent-Delorme and Emmanuelle Lagrue and Radu Harbuz and Susan Walker and Christian Marshall and Gunnar Houge and Vera M. Kalscheuer and Stephen W. Scherer and Berge A Minassian}, journal={Annals of neurology}, year={2014}, volume={76 5}, pages={758-64} }