Skip to Main content Skip to Navigation
New interface
Journal articles

Severe neonatal seizures: From molecular diagnosis to precision therapy?

Abstract : Early onset epileptic encephalopathies (EOEE) are heterogeneous group of severe epilepsies that still need to be better defined and characterized. On a genetic point of view, several dozen of genes have been associated with EOEE, and to date, it is difficult to find a common mechanism to explain EOEE. In this short review, we show that two mains genes are involved in EOEE: STXBP1 and KCNQ2. Focusing on KCNQ2 related EOEE, we show that a relatively similar phenotype can be related to various consequences of mutations on a single gene. This will probably challenge the treatment of EOEE patients.
Complete list of metadata

Cited literature [11 references]  Display  Hide  Download
Contributor : Laurent Villard Connect in order to contact the contributor
Submitted on : Tuesday, December 19, 2017 - 5:37:22 PM
Last modification on : Friday, February 11, 2022 - 3:04:26 AM


MILH PRECISION 2016_biffé.pd...
Files produced by the author(s)




Mathieu Milh, Pierre Cacciagli, Cecile Mignon-Ravix, Catherine Badens, A. Lepine, et al.. Severe neonatal seizures: From molecular diagnosis to precision therapy?. Revue Neurologique, 2016, 172 (3), pp.171-173. ⟨10.1016/j.neurol.2016.02.005⟩. ⟨hal-01668113⟩



Record views


Files downloads