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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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Submitted on : Tuesday, December 19, 2017 - 5:37:22 PM
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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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