2024
Newly developed oral bioavailable EHMT2 inhibitor as a potential epigenetic therapy for Prader-Willi syndrome
Wang S, Xiong Y, Jang M, Park K, Donahue M, Velez J, Jin J, Jiang Y. Newly developed oral bioavailable EHMT2 inhibitor as a potential epigenetic therapy for Prader-Willi syndrome. Molecular Therapy 2024, 32: 2662-2675. PMID: 38796700, PMCID: PMC11405540, DOI: 10.1016/j.ymthe.2024.05.034.Peer-Reviewed Original ResearchPrader-Willi syndromeEpigenetic therapyMouse modelChromosome 15q11-q13 regionPWS mouse modelFirst-in-class inhibitorEfficacy of oral administrationPoor oral bioavailabilityPotential epigenetic therapiesReduction of H3K9me2Paternally expressed genesOral bioavailabilityIntraperitoneal routeOral administrationPerinatal lethalityTherapeutic benefitBrain penetrationMolecular efficacyPatient fibroblastsEpigenetic modulationGenomic disordersMaternal chromosomeBrain permeabilityLiver tissueCandidate genes
2015
Quinidine in the treatment of KCNT1‐positive epilepsies
Mikati MA, Jiang YH, Carboni M, Shashi V, Petrovski S, Spillmann R, Milligan CJ, Li M, Grefe A, McConkie A, Berkovic S, Scheffer I, Mullen S, Bonner M, Petrou S, Goldstein D. Quinidine in the treatment of KCNT1‐positive epilepsies. Annals Of Neurology 2015, 78: 995-999. PMID: 26369628, PMCID: PMC4811613, DOI: 10.1002/ana.24520.Peer-Reviewed Original ResearchConceptsEpilepsy of infancySecondary generalized seizuresDrug-resistant epilepsySeizure frequencyGeneralized seizuresFocal seizuresKCNT1 mutationsSeizure evaluationSeizure diariesTargeted drugsTherapeutic benefitDevelopmental regressionEpilepsyGain of functionQuinidineEarly childhoodSeizuresPatientsMutations
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