Absent CNKSR2 causes seizures and intellectual, attention, and language deficits
Copyright policy )Absent CNKSR2 causes seizures and intellectual, attention, and language deficits
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
- University of Toronto Canada
- Boston Children's Hospital United States
- UNIVERSITE LILLE 1 France
- Alberta Health Services Canada
- Centre Hospitalier Universitaire de Tours France
Adult, Male, Heterozygote, Language Disorders, Adolescent, Electroencephalography, Middle Aged, Neuropsychological Tests, Pedigree, Attention Deficit Disorder with Hyperactivity, Seizures, Intellectual Disability, Humans, Female, Age of Onset, Child, Adaptor Proteins, Signal Transducing
Adult, Male, Heterozygote, Language Disorders, Adolescent, Electroencephalography, Middle Aged, Neuropsychological Tests, Pedigree, Attention Deficit Disorder with Hyperactivity, Seizures, Intellectual Disability, Humans, Female, Age of Onset, Child, Adaptor Proteins, Signal Transducing
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