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Antisense oligonucleotide therapy for KCNT1 encephalopathy.
Burbano LE, Li M, Jancovski N, Jafar-Nejad P, Richards K, Sedo A, Soriano A, Rollo B, Jia L, Gazina EV, Piltz S, Adikusuma F, Thomas PQ, Kopsidas H, Rigo F, Reid CA, Maljevic S, Petrou S. Burbano LE, et al. Among authors: richards k. JCI Insight. 2022 Dec 8;7(23):e146090. doi: 10.1172/jci.insight.146090. JCI Insight. 2022. PMID: 36173683 Free PMC article.
Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function.
Xu R, Thomas EA, Gazina EV, Richards KL, Quick M, Wallace RH, Harkin LA, Heron SE, Berkovic SF, Scheffer IE, Mulley JC, Petrou S. Xu R, et al. Among authors: richards kl. Neuroscience. 2007 Aug 10;148(1):164-74. doi: 10.1016/j.neuroscience.2007.05.038. Epub 2007 Jul 12. Neuroscience. 2007. PMID: 17629415
1,144 results