Developmental progression of intellectual disability, autism, and epilepsy in a child with an IQSEC2 gene mutation

Clin Case Rep. 2017 Aug 24;5(10):1639-1643. doi: 10.1002/ccr3.1139. eCollection 2017 Oct.


The neurodevelopmental progression of a school-aged child with a spontaneous IQSEC2 mutation has demonstrated apparent regression of milestones and language. Seizures associated with the disorder have been refractory to medical treatment. Late treatment of autism in this child has led to improved social skills.

Keywords: Autism; IQSEC2; child development; epilepsy; intellectual disability.

Publication types

  • Case Reports