SLC9A6 -related developmental and epileptic encephalopathy with spike-and-wave activation in sleep: A case report

• 영문명: SLC9A6 -related developmental and epileptic encephalopathy with spike-and-wave activation in sleep: A case report
• 발행기관: 대한의학유전학회
• 저자명: Hye Ri Bae Young Ok Kim
• 간행물 정보: 『대한의학유전학회지』제19권 제2호, 100~104쪽, 전체 5쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2022.12.31

영문 초록

The gene encoding solute carrier family 9 member 6 (SLC9A6) on Xq26.3 is associated with Christianson syndrome (CS) mimicking Angelman syndrome. In CS, developmental and epileptic encephalopathy (DEE) appears in about 20%, and DEE with spike-and-wave activation in sleep (SWAS) is reported only in several cases. A 10-year-old boy with DEE showed multi-drug resistant focal seizures from 6 months of age. He had progressive microcephaly, regression, global developmental delay without speech, hyperkinesia, and truncal ataxia; he had a long thin face, esotropia, and happy demeanor. Brain magnetic resonance imaging demonstrated cerebellar atrophy. Electroencephalogram at 7.5 years of age showed nearly continuous dif-fuse paroxysms in slow wave sleep. The seizures were responsive to corticosteroids for a while. Trio whole exome sequencing exhibited a likely pathogenic variant of SLC9A6 in the proband and his asymptomatic mother: c.1194dup (p.Leu399AlafsTer12). This is a rare case report of CS with DEE-SWAS in a Korean patient.

목차

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키워드

Status epilepticus Growth and development Child Genes Syndrome