Genetics of neonatal onset epilepsies: An overview

Mathieu Milh (1, 2) , Florence Riccardi (1, 2) , J. Denis (2)

1 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille
2 Service de pédiatrie et neurologie pédiatrique

The weight of monogenic abnormalities in the possible causes of epilepsy has grown significantly in recent years, due to the emergence of next-generation sequencing (NGS) techniques. Especially notable in early neonatal and infantile epilepsies, which seem to be explained by monogenic abnormalities. This short review focuses on the major genes associated with very early-onset epilepsies, where NGS techniques are most cost-effective: early infantile epileptic encephalopathy, early myoclonic encephalopathy, and other neonatal epilepsies. The discovery of the genetic mutation often follows several weeks or months of management, and rarely modifies it. However, clinical studies can sometimes better define medical treatment. The genetic causes of these epilepsies are very numerous and the pathophysiological knowledge very minimal. The big challenge for the coming years is to develop more targeted treatments based on research on animal models.

Mots clés: Epileptic encephalopathy; Genetics; Neonatal onset epilepsy; Neonate

Domaines: Médecine humaine et pathologie; Génétique humaine

Mathieu Milh, Florence Riccardi, J. Denis. Genetics of neonatal onset epilepsies: An overview. Revue Neurologique, 2020, 176 (1-2), pp.2-9. ⟨10.1016/j.neurol.2019.01.396⟩. ⟨hal-03222897⟩