title: 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.
authors.affiliation: Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada; Cytogenetics Laboratory, Alberta Children's Hospital, Calgary, Alberta, Canada; Department of Anatomical Pathology and Cytopathology, Calgary Laboratory Services, Calgary, Alberta, Canada.
authors.forename: Andrea K
authors.initials: AK
authors.lastname: Vaags
authors.forename: Sarah
authors.initials: S
authors.lastname: Bowdin
authors.forename: Mary-Lou
authors.initials: ML
authors.lastname: Smith
authors.forename: Brigitte
authors.initials: B
authors.lastname: Gilbert-Dussardier
authors.forename: Katja S
authors.initials: KS
authors.lastname: Brocke-Holmefjord
authors.forename: Katia
authors.initials: K
authors.lastname: Sinopoli
authors.forename: Cindy
authors.initials: C
authors.lastname: Gilles
authors.forename: Tove B
authors.initials: TB
authors.lastname: Haaland
authors.forename: Catherine
authors.initials: C
authors.lastname: Vincent-Delorme
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Lagrue
authors.forename: Radu
authors.initials: R
authors.lastname: Harbuz
authors.forename: Susan
authors.initials: S
authors.lastname: Walker
authors.forename: Christian R
authors.initials: CR
authors.lastname: Marshall
authors.forename: Gunnar
authors.initials: G
authors.lastname: Houge
authors.forename: Vera M
authors.initials: VM
authors.lastname: Kalscheuer
authors.forename: Stephen W
authors.initials: SW
authors.lastname: Scherer
authors.forename: Berge A
authors.initials: BA
authors.lastname: Minassian
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics / Q000378:metabolism*; D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001289:Attention Deficit Disorder with Hyperactivity / Q000235:genetics / Q000378:metabolism* / Q000523:psychology; D002648:Child; D004569:Electroencephalography; D005260:Female; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000378:metabolism* / Q000523:psychology; D007806:Language Disorders / Q000235:genetics / Q000378:metabolism* / Q000523:psychology; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D010375:Pedigree; D012640:Seizures / Q000235:genetics / Q000378:metabolism*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C479421:CNKSR2 protein, human