Open AccessA novel de novo heterozygous variant of the KCNQ2 gene: Contribution to early‑onset epileptic encephalopathy in a female infant
Author(s) -
Haifeng Liu,
Ting-Yun Yuan,
Jia-Wu Yang,
Feng Li,
Fan Wang,
Hongqiao Fu
Publication year - 2022
Publication title -
molecular medicine reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.727
H-Index - 56
eISSN - 1791-3004
pISSN - 1791-2997
DOI - 10.3892/mmr.2022.12797
Subject(s) - missense mutation , epilepsy , genotyping , biology , electroencephalography , mutation , encephalopathy , gene , genetics , bioinformatics , medicine , genotype , neuroscience