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Review
. 2016 Mar;172(3):171-3.
doi: 10.1016/j.neurol.2016.02.005. Epub 2016 Mar 15.

Severe neonatal seizures: From molecular diagnosis to precision therapy?

M Milh  1 , P Cacciagli  2 , C Ravix  2 , C Badens  2 , A Lépine  2 , N Villeneuve  2 , L Villard  2
Affiliations
Review

Severe neonatal seizures: From molecular diagnosis to precision therapy?

M Milh et al. Rev Neurol (Paris). 2016 Mar.

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.

Keywords: EEE genes; Early epileptic encephalopathies; Severe neonatal seizures.

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