Phenotype of heterozygous variants of dehydrodolichol diphosphate synthase.

Xianru JiaoYinan XueSai YangPan GongYue NiuQi WangHui YangHui XiongYuehua ZhangZhi-Xian Yang

Published in: Developmental medicine and child neurology (2021)

Myoclonic seizure is the most common seizure type in heterozygous DHDDS variants, while myoclonic status epilepticus can also occur. The pattern of interictal EEG discharges is characterized by slow waves rather than spike and waves, and generalized discharges was prominent.

Keyphrases

temporal lobe epilepsy
copy number
early onset
working memory
functional connectivity
gene expression
high density