A case of infantile epileptic spasms syndrome and autism spectrum disorder with an RFX3 mutation

Seizure. 2023 Nov:112:11-14. doi: 10.1016/j.seizure.2023.09.004. Epub 2023 Sep 7.

¹ Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan; Department of General Pediatrics and Interdisciplinary Medicine, Fukuoka Children's Hospital, Fukuoka, Japan. Electronic address: toriomichiko@gmail.com.
² Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan.
³ Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
⁴ Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.

No abstract available

Keywords: Epileptic encephalopathy; Infantile spasms; Neurodevelopmental disorders; Regulatory factor X3; Whole-exome sequencing.