A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study.
Syuan-Yu HongJiann-Jou YangShuan-Yow LiInn-Chi LeePublished in: Journal of personalized medicine (2020)
Wide genetic variation was identified for severe childhood seizures by WES. WES had a high yield, particularly in male infantile patients.