Genetics of neonatal onset epilepsies: an overview

M Milh, F Riccardi, J Denis - Revue Neurologique, 2020 - Elsevier
The weight of monogenic abnormalities in the possible causes of epilepsy has grown
significantly in recent years, due to the emergence of next-generation sequencing (NGS)
techniques. Especially notable in early neonatal and infantile epilepsies, which seem to be
explained by monogenic abnormalities. This short review focuses on the major genes
associated with very early-onset epilepsies, where NGS techniques are most cost-effective:
early infantile epileptic encephalopathy, early myoclonic encephalopathy, and other …
以上显示的是最相近的搜索结果。 查看全部搜索结果