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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Bibliographic Details

Published in:	Chinese Journal of Contemporary Neurology & Neurosurgery Vol. 25; no. 10; pp. 957 - 966
Main Authors:	DU, Ya-kun, WANG, Li-hui, LI, Yan, CHEN, Fang, DONG, Lei, SUN, Su-zhen
Format:	case study diagnostic images tables/charts tracings Journal Article
Published:	Chinese Journal of Contemporary Neurology & Neurosurgery Oct2025
Online Access:	View this record in EBSCOhost