Absent CNKSR2 causes seizures and intellectual, attention, and language deficits. Issue 5 (4th October 2014)

• Record Type: Journal Article
• Authors: 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.
• Is Part Of: Annals of neurology. Volume 76:Issue 5(2014:Nov.)
• Page Start: 758
• Page End: 764
• Publication Date: 2014-10-04
• Subjects: Neurology -- Periodicals; Pediatric neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; 616.8
• DOI: 10.1002/ana.24274
• Languages: English
• ISSNs: 0364-5134

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>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</p> </abstract>