Angela M Bard

Editor’s summary Dravet syndrome (DS) is a severe and difficult-to-treat epileptic syndrome usually caused by a loss-of-function mutation in SCN1A, which encodes the voltage-gated sodium channel 1.1 (NaV1.1), resulting in interneuron inhibitory dysfunction. Here, Mich and colleagues developed a gene replacement therapy for DS that specifically targets these interneurons.

1 INTRODUCTION Sudden Infant Death Syndrome (SIDS) is defined as the sudden and unexpected death of an infant younger than one year, for which the cause of death remains unexplained despite a thorough investigation including a complete autopsy, and review of the circumstances of death along with review of the clinical history (American SIDS Institute, 2023). The term Sudden Unexpected Infant Death (SUID) is more encompassing.

Abstract Mitochondrial deficits in energy production cause untreatable and fatal pathologies known as mitochondrial disease (MD). Central nervous system affectation is critical in Leigh Syndrome (LS), a common MD presentation, leading to motor and respiratory deficits, seizures and premature death. However, only specific neuronal populations are affected. Furthermore, their molecular identity and their contribution to the disease remains unknown.