Severe neonatal seizures: From molecular diagnosis to precision therapy?

M Milh; P Cacciagli; C Ravix; C Badens; A Lépine; N Villeneuve; L Villard

doi:10.1016/j.neurol.2016.02.005

Severe neonatal seizures: From molecular diagnosis to precision therapy?

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

Authors

M Milh¹, P Cacciagli², C Ravix², C Badens², A Lépine², N Villeneuve², L Villard²

Affiliations

¹ Aix-Marseille Université, Inserm, Service de neurologie pédiatrique, GMGF UMR_S 910, 264, rue Saint-Pierre, 13385 Marseille, France. Electronic address: mathieu.milh@ap-hm.fr.
² Aix-Marseille Université, Inserm, Service de neurologie pédiatrique, GMGF UMR_S 910, 264, rue Saint-Pierre, 13385 Marseille, France.

PMID: 26993565
DOI: 10.1016/j.neurol.2016.02.005

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.

Publication types

Review

MeSH terms

Epilepsy / genetics
Humans
Infant, Newborn
Precision Medicine
Seizures / diagnosis
Seizures / genetics*
Seizures / therapy*