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

Rachelle Zipper; Sherri D Baine; Jacob Genizi; Hen Maoz; Nina S Levy; Andrew P Levy

doi:10.1002/ccr3.1139

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.

Authors

Rachelle Zipper¹, Sherri D Baine², Jacob Genizi^{1

3}, Hen Maoz⁴, Nina S Levy¹, Andrew P Levy¹

Affiliations

¹ Technion Faculty of Medicine Technion Israel Institute of Technology Haifa Israel.
² Department of Pediatrics North York General Hospital University of Toronto Toronto Ontario Canada.
³ Pediatric Neurology Unit Bnai Zion Medical Center Haifa Israel.
⁴ Kiryat Shmona Regional Unit for Child Development Kiryat Shmona Israel.

Abstract

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