Clinical Characteristics

The main clinical features of the condition associated with CNKSR2 mutations are:

  • Psychomotor delay
  • Intellectual disability (IQ <70)
  • Seizures
  • Expressive language problems
  • Attention problems/hyperactivity
  • Autistic spectrum disorder
  • Myoclonic jerks
  • Abnormal EEG with centrotemporal or frontal spike and wave activity during sleep

In around half of the patients described, speech and language is affected adversely after their first seizure and language capabilities may not be regained.