학술논문
Absent CNKSR2 causes seizures and intellectual, attention, and language deficits.
Document Type
Academic Journal
Author
Vaags, Andrea K; Bowdin, Sarah; Smith, Mary-Lou; Gilbert-Dussardier, Brigitte; Brocke-Holmefjord, Katja S; Sinopoli, Katia; Gilles, Cindy; Haaland, Tove B; Vincent-Delorme, Catherine; Lagrue, Emmanuelle; Harbuz, Radu; Walker, Susan; Marshall, Christian R; Houge, Gunnar; Kalscheuer, Vera M; Scherer, Stephen W; Minassian, Berge A
Source
Subject
Language
English
ISSN
0364-5134
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. Ann Neurol 2014;76:758-764.