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.
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https://hal-amu.archives-ouvertes.fr/hal-01668113
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Soumis le : mardi 19 décembre 2017 - 17:37:22
Dernière modification le : lundi 23 avril 2018 - 09:22:02

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

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