Efficacy of ketogenic diet in the treatment of SCN2A gene-related developmental epileptic encephalopathy(report of one case)
10.3969/j.issn.1004-1648.2025.01.011
- VernacularTitle:生酮饮食治疗SCN2A基因相关发育性癫痫性脑病的疗效观察(附1例报告)
- Author:
Ying SUN
1
;
Lifen DUAN
1
;
Runxiu YIN
1
Author Information
1. 650000 昆明市儿童医院癫痫中心
- Publication Type:Journal Article
- Keywords:
epilepsy;
early-onset epileptic encephalopathy;
SCN2A gene;
gene mutation;
ketogenic diet
- From:
Journal of Clinical Neurology
2025;38(1):48-51
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the efficacy of ketogenic diet in the treatment of SCN2A gene-related developmental epileptic encephalopathy.Methods The clinical data of a child with developmental epileptic encephalopathy associated with SCN2A gene mutation,whose main manifestations were developmental retardancy and epileptic spasm,and treated with ketogenic diet was retrospectively analyzed.Results Epileptic spasm onset at 5 months old.The EEG showed hypsarrhythmia and the epileptic spasm was monitored.Genetic examination revealed a new heterozygous missense mutation of c.5317 G＞A(p.Ala1773Thr)in SCN2A gene.The child was not effective after treatment with a variety of anti-seizure drugs,and was effective after treatment with ketogenic diet.The follow-up for 11 months showed that the seizure of the child was completely controlled and cognitive progress was made.Conclusion The ketogenic diet can be used to treat SCN2A gene-related developmental epileptic encephalopathy,and it can also achieve better results for younger patients.
