Details

Autor(en) / Beteiligte

• Chilcott, Ellie
• Díaz, Juan Antinao
• Bertram, Cori
• Berti, Margherita
• Karda, Rajvinder

Titel

Genetic therapeutic advancements for Dravet Syndrome

Ist Teil von

• Epilepsy & behavior, 2022-07, Vol.132, p.108741-108741, Article 108741

Ort / Verlag

United States: Elsevier Inc

Erscheinungsjahr

2022

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• •Dravet Syndrome may benefit from genetic therapy strategies.•Viral, non-viral, and gene editing approaches show promise.•Genetic therapies lead to seizure reduction and survival increase in Dravet mice. Dravet Syndrome is a genetic epileptic syndrome characterized by severe and intractable seizures associated with cognitive, motor, and behavioral impairments. The disease is also linked with increased mortality mainly due to sudden unexpected death in epilepsy. Over 80% of cases are due to a de novo mutation in one allele of the SCN1A gene, which encodes the α-subunit of the voltage-gated ion channel NaV1.1. Dravet Syndrome is usually refractory to antiepileptic drugs, which only alleviate seizures to a small extent. Viral, non-viral genetic therapy, and gene editing tools are rapidly enhancing and providing new platforms for more effective, alternative medicinal treatments for Dravet syndrome. These strategies include gene supplementation, CRISPR-mediated transcriptional activation, and the use of antisense oligonucleotides. In this review, we summarize our current knowledge of novel genetic therapies that are currently under development for Dravet syndrome.