Absent CNKSR2 Causes Seizures and Intellectual, Attention, and Language Deficits

作者：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^*

来源：Annals of Neurology, 2014, 76(5): 758-764.

DOI：10.1002/ana.24274

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

• 出版日期2014-11
• 单位河北医科大学