Heart rate variability alterations in Dravet Syndrome: the role of status epilepticus and a possible association with mortality risk

Dravet syndrome (DS) is a developmental and epileptic encephalopathy, characterized by epilepsy, cognitive decline, behavior disorders and motor impairment [1], caused by a mutation in SCN1A in almost all the patients. SCN1A encodes the α1 subunit of the voltage-gated sodium channel (Nav1.1) and its loss of function determines a dysfunction of GABAergic interneurons with consequent impairment of inhibitory pathways [2]. The mortality in DS is very high, not only compared to healthy controls but also to other patients with drug-res istant epilepsy, who are about three times less likely to die [3].

Source: Seizure: European Journal of Epilepsy - November 27, 2021 Category: Neurology Authors: M. Perulli, A. Battista, S. Sivo, I. Turrini, E. Musto, M. Quintiliani, M.L. Gambardella, I. Contaldo, C. Veredice, E.M. Mercuri, G.A Lanza, C. Dravet, A.B. Delogu, D.I. Battaglia Source Type: research