Associated Papers
Prenatally and postnatally sequential genetic etiology detection in corpus callosum abnormalities.
Xue H et al.
Scientific Reports, 2025
QARS1 associated developmental epileptic encephalopathy: first report of a rare homozygous missense variant from Pakistan causing nonepileptic phenotype in a family of seven patients and a comprehensive review of the literature.
Ahmad R et al.
Molecular Biology Reports, 2025
Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy.
Mao B et al.
Frontiers in Neuroscience, 2023
Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.
Kodera H et al.
Journal of Human Genetics, 2015
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