Abstract
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。.
MeSH terms
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Brain* / diagnostic imaging
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Brain* / pathology
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Diet, Ketogenic*
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Electroencephalography*
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Epilepsy / genetics
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Excitatory Amino Acid Transporter 2 / genetics
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Exome Sequencing
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Female
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Humans
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Infant
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Magnetic Resonance Imaging*
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Male
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Mutation
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Seizures / etiology
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Seizures / genetics
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Spasms, Infantile / genetics
Substances
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SLC1A2 protein, human
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Excitatory Amino Acid Transporter 2