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[A case of developmental epileptic encephalopathy related to SLC1A2 gene variation].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Dec 2024

He Q Q, Zou D F

Abstract excerpt

患儿　女，4月龄，因“反复抽搐2个月余，加重3 d”就诊于中国医科大学深圳市儿童医院神经内科。患儿2月龄开始出现癫痫发作，伴全面发育落后，有发育倒退现象，脑电图示高峰节律紊乱伴爆发-抑制，颅脑磁共振成像示全脑萎缩及胼胝体发育不良，家系全外显子组测序提示SLC1A2基因新生杂合变异NM_004171.4：c.254T>G（p.Leu85Arg），确诊为发育性癫痫性脑病41型。经多种抗癫痫发作药物治疗无效，患儿6月龄开始生酮饮食治疗后无癫痫发作，发育较前改善。.

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Source

Identifiers

PMID: 39563054
DOI: 10.3760/cma.j.cn112140-20240606-00383

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