Intractable epilepsy caused by SZT2 gene mutation in 3 children

  • 李洁玲,曹洁
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  • Department of Medical General Ward, Children’s Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Pediatrics, Chongqing 400010, China

Online published: 2019-04-18

Abstract

 Objective To explore the clinical manifestations and prognosis of intractable epilepsy caused by SZT2 gene mutation in 3 children. Method Clinical data and follow-up results of 3 children with intractable epilepsy caused by SZT2 gene mutation were analyzed and summarized. Results Two boys and 1 girl presented intractable epilepsy at the age of 4 months, 10 months and 18 months respectively, accompanied by mental retardation, special facial features (high forehead, blepharoptosis, eyelid ptosis and bow shaped eyebrow), lower limb muscle tone and enlarged head circumference. All of them had severe epileptic encephalopathy, and one boy died of repeated convulsions (onset at age of 10 months). The genetic test results showed all of 3 children had SZT2 gene mutation. Conclusion For children having intractable epilepsy without obvious inducement accompanied by mental retardation, genetic testing should be completed as soon as possible to make a clear diagnosis.

Cite this article

李洁玲,曹洁 . Intractable epilepsy caused by SZT2 gene mutation in 3 children[J]. Journal of Clinical Pediatrics, 2019 , 37(4) : 288 . DOI: 10.3969/j.issn.1000-3606.2019.04.011

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