title: 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.
authors.affiliation: 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.
authors.forename: M
authors.initials: M
authors.lastname: Milh
authors.affiliation: Aix-Marseille Université, Inserm, Service de neurologie pédiatrique, GMGF UMR_S 910, 264, rue Saint-Pierre, 13385 Marseille, France.
authors.forename: P
authors.initials: P
authors.lastname: Cacciagli
authors.affiliation: Aix-Marseille Université, Inserm, Service de neurologie pédiatrique, GMGF UMR_S 910, 264, rue Saint-Pierre, 13385 Marseille, France.
authors.forename: C
authors.initials: C
authors.lastname: Ravix
authors.affiliation: Aix-Marseille Université, Inserm, Service de neurologie pédiatrique, GMGF UMR_S 910, 264, rue Saint-Pierre, 13385 Marseille, France.
authors.forename: C
authors.initials: C
authors.lastname: Badens
authors.affiliation: Aix-Marseille Université, Inserm, Service de neurologie pédiatrique, GMGF UMR_S 910, 264, rue Saint-Pierre, 13385 Marseille, France.
authors.forename: A
authors.initials: A
authors.lastname: Lépine
authors.affiliation: Aix-Marseille Université, Inserm, Service de neurologie pédiatrique, GMGF UMR_S 910, 264, rue Saint-Pierre, 13385 Marseille, France.
authors.forename: N
authors.initials: N
authors.lastname: Villeneuve
authors.affiliation: Aix-Marseille Université, Inserm, Service de neurologie pédiatrique, GMGF UMR_S 910, 264, rue Saint-Pierre, 13385 Marseille, France.
authors.forename: L
authors.initials: L
authors.lastname: Villard
mesh_terms: D004827:Epilepsy / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D057285:Precision Medicine; D012640:Seizures / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy*
keywords: EEE genes; Early epileptic encephalopathies; Severe neonatal seizures