Severe neonatal seizures: From molecular diagnosis to precision therapy?

Mathieu Milh (1, 2) , Pierre Cacciagli (1) , Cecile Mignon-Ravix (1) , Catherine Badens (1, 3, 4) , A. Lepine (1) , Nathalie Villeneuve (1) , Laurent Villard (1)

1 GMGF - Génétique Médicale et Génomique Fonctionnelle
2 Service de pédiatrie spécialisée et médecine infantile (neurologie, pneumologie, maladies héréditaires du métabolisme) [Hôpital de la Timone - APHM]
3 Département de génétique médicale [Hôpital de la Timone - APHM]
4 Centre de référence maladie rare Thalassémie

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.

Mots clés: EEE genes; Early epileptic encephalopathies; Severe neonatal seizures

Domaines: Neurosciences [q-bio.NC]; Génétique humaine; Pédiatrie

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⟩