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Absent CNKSR 2 causes seizures and intellectual, attention, and language deficits
Author(s) -
Vaags Andrea K.,
Bowdin Sarah,
Smith MaryLou,
GilbertDussardier Brigitte,
BrockeHolmefjord Katja S.,
Sinopoli Katia,
Gilles Cindy,
Haaland Tove B.,
VincentDelorme Catherine,
Lagrue Emmanuelle,
Harbuz Radu,
Walker Susan,
Marshall Christian R.,
Houge Gunnar,
Kalscheuer Vera M.,
Scherer Stephen W.,
Minassian Berge A.
Publication year - 2014
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.24274
Subject(s) - epilepsy , neuroscience , synapse , intellectual disability , disease , psychology , phenotype , medicine , psychiatry , biology , genetics , pathology , gene
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