Absent CNKSR2 causes seizures and intellectual, attention, and language deficits

Ann Neurol. 2014 Nov;76(5):758-64. doi: 10.1002/ana.24274. Epub 2014 Oct 4.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Adaptor Proteins, Signal Transducing / metabolism*
  • Adolescent
  • Adult
  • Age of Onset
  • Attention Deficit Disorder with Hyperactivity / genetics
  • Attention Deficit Disorder with Hyperactivity / metabolism*
  • Attention Deficit Disorder with Hyperactivity / psychology
  • Child
  • Electroencephalography
  • Female
  • Heterozygote
  • Humans
  • Intellectual Disability / genetics
  • Intellectual Disability / metabolism*
  • Intellectual Disability / psychology
  • Language Disorders / genetics
  • Language Disorders / metabolism*
  • Language Disorders / psychology
  • Male
  • Middle Aged
  • Neuropsychological Tests
  • Pedigree
  • Seizures / genetics
  • Seizures / metabolism*

Substances

  • Adaptor Proteins, Signal Transducing
  • CNKSR2 protein, human