Hyperhomocysteinemia complicated with developmental epileptic encephalopathy caused by compound heterozygous mutations of MTHFR gene: one case report and literature review.

Objective To investigate the clinical correlation between hyperhomocysteinemia caused by MTHFR gene mutation and developmental epileptic encephalopathy (DEE), as well as the corresponding intervention strategies. Methods and Results A female child, aged 2 years and 5 months, presented with infantile...

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Publicado en:Chinese Journal of Contemporary Neurology & Neurosurgery Vol. 25; no. 10; pp. 957 - 966
Autores principales: DU, Ya-kun, WANG, Li-hui, LI, Yan, CHEN, Fang, DONG, Lei, SUN, Su-zhen
Formato: case study diagnostic images tables/charts tracings Journal Article
Publicado: Chinese Journal of Contemporary Neurology & Neurosurgery Oct2025
Acceso en línea:Ver este registro en EBSCOhost