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001-es BibID:BIBFORM076188
035-os BibID:(WoS)000442351000026 (Scopus)85051815682
Első szerző:Richards, Kay L.
Cím:Selective NaV 1.1 activation rescues Dravet syndrome mice from seizures and premature death / Richards Kay L., Milligan Carol J., Richardson Robert J., Jancovski Nikola, Grunnet Morten, Jacobson Laura H., Undheim Eivind A. B., Mobli Mehdi, Chow Chun Yuen, Herzig Volker, Csoti Agota, Panyi Gyorgy, Reid Christopher A., King Glenn F., Petrou Steven
Dátum:2018
ISSN:0027-8424 1091-6490
Megjegyzések:Dravet syndrome is a catastrophic, pharmacoresistant epileptic encephalopathy. Disease onset occurs in the first year of life, followed by developmental delay with cognitive and behavioral dysfunction and substantially elevated risk of premature death. The majority of affected individuals harbor a loss-of-function mutation in one allele of SCN1A, which encodes the voltage-gated sodium channel Na V 1.1. Brain Na 1.1 is primarily localized to fast-spiking inhibitory interneurons; thus the mechanism of epileptogenesis in Dravet syndrome is hypothesized to be reduced inhibitory neurotransmission leading to brain hyperexcitability. We show that selective activation of Na V V 1.1 by venom peptide Hm1a restores the function of inhibitory interneurons from Dravet syndrome mice without affecting the firing of excitatory neurons. Intracerebroventricular infusion of Hm1a rescues Dravet syndrome mice fromseizures and premature death. This precision medicine approach, which specifically targets the molecular deficit in Dravet syndrome, presents an opportunity for treatment of this intractable epilepsy.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
genetic epilepsy
spider venom
targeted drug therapy
seizures
Dravet syndrome
Megjelenés:Proceedings Of The National Academy Of Sciences Of The United States Of America. - 115 : 34 (2018), p. E8077-E8085. -
További szerzők:Milligan, Carol J. Richardson, Robert J. Jancovski, Nikola Grunnet, Morten Jacobson, Laura H. Undheim, Eivind A. B. Mobli, Mehdi Chow, Chun Yuen Herzig, Volker Csóti Ágota (1989-) (biológus) Panyi György (1966-) (biofizikus) Reid, Christopher A. King, Glenn F. Petrou, Steven
Pályázati támogatás:GINOP-2.3.2-15-2016-00044
GINOP
Australian National Health and Medical Research Council Program Grant 10915693
Egyéb
by Citizen's United for Research in Epilepsy Pediatrics Award 353711
Egyéb
Principal Research Fellowships
Egyéb
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