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

Andrea K. Vaags, Sarah Bowdin, Mary Lou Smith, Brigitte Gilbert-Dussardier, Katja S. Brocke-Holmefjord, Katia Sinopoli, Cindy Gilles, Tove B. Haaland, Catherine Vincent-Delorme, Emmanuelle Lagrue, Radu Harbuz, Susan Walker, Christian R. Marshall, Gunnar Houge, Vera M. Kalscheuer, Stephen W. Scherer, Berge A. Minassian

Research output: Contribution to journalArticlepeer-review

39 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)758-764
Number of pages7
JournalAnnals of Neurology
Issue number5
StatePublished - Nov 1 2014

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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