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Targeted molecular strategies for genetic neurodevelopmental disorders: Emerging lessons from dravet syndrome.
Neuroscientist, DOI: 10.1177/10738584221088244 (2022)
Dravet syndrome is a severe developmental and epileptic encephalopathy mostly caused by heterozygous mutation of the SCN1A gene encoding the voltage-gated sodium channel α subunit Nav1.1. Multiple seizure types, cognitive deterioration, behavioral disturbances, ataxia, and sudden unexpected death associated with epilepsy are a hallmark of the disease. Recently approved antiseizure medications such as fenfluramine and cannabidiol have been shown to reduce seizure burden. However, patients with Dravet syndrome are still medically refractory in the majority of cases, and there is a high demand for new therapies aiming to improve behavioral and cognitive outcome. Drug-repurposing approaches for SCN1A-related Dravet syndrome are currently under investigation (i.e., lorcaserin, clemizole, and ataluren). New therapeutic concepts also arise from the field of precision medicine by upregulating functional SCN1A or by activating Nav1.1. These include antisense nucleotides directed against the nonproductive transcript of SCN1A with the poison exon 20N and against an inhibitory noncoding antisense RNA of SCN1A. Gene therapy approaches such as adeno-associated virus-based upregulation of SCN1A using a transcriptional activator (ETX101) or CRISPR/dCas technologies show promising results in preclinical studies. Although these new treatment concepts still need further clinical research, they offer great potential for precise and disease modifying treatment of Dravet syndrome.
Impact Factor
Scopus SNIP
Altmetric
7.235
0.000
Anmerkungen
Besondere Publikation
Auf Hompepage verbergern
Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Review
Schlagwörter
Dravet Syndrome ; Scn1a ; Epilepsy ; Precision Medicine ; Therapy
Sprache
englisch
Veröffentlichungsjahr
2022
HGF-Berichtsjahr
2022
ISSN (print) / ISBN
1073-8584
e-ISSN
1089-4098
Zeitschrift
The Neuroscientist
Verlag
Sage
Verlagsort
Thousand Oaks, Calif.
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Neurogenomics (ING)
POF Topic(s)
30205 - Bioengineering and Digital Health
Forschungsfeld(er)
Genetics and Epidemiology
PSP-Element(e)
G-503200-001
Förderungen
Roche Ltd, Basel, Switzerland
WOS ID
WOS:000783873400001
Scopus ID
85129269717
PubMed ID
35414300
Erfassungsdatum
2022-08-29