Timothy syndrome iPSC modeling.
Bekdash R, Klein AD, Yazawa M.
Mol Cell Neurosci. 2020 Sep;107:103529. doi: 10.1016/j.mcn.2020.103529. Epub 2020 Jul 3.
Antisense oligonucleotide therapeutic approach for Timothy syndrome.
Chen X, Birey F, Li MY, Revah O, Levy R, Thete MV, Reis N, Kaganovsky K, Onesto M, Sakai N, Hudacova Z, Hao J, Meng X, Nishino S, Huguenard J, Pașca SP.
Nature. 2024 Apr;628(8009):818-825. doi: 10.1038/s41586-024-07310-6. Epub 2024 Apr 24.
Dissecting the molecular basis of human interneuron migration in forebrain assembloids from Timothy syndrome.
Birey F, Li MY, Gordon A, Thete MV, Valencia AM, Revah O, Paşca AM, Geschwind DH, Paşca SP.
Cell Stem Cell. 2022 Feb 3;29(2):248-264.e7. doi: 10.1016/j.stem.2021.11.011. Epub 2022 Jan 5.
Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics.
Jiang C, Zhang Y.
Expert Rev Mol Med. 2023 May 3;25:e17. doi: 10.1017/erm.2023.11.
Update on the Molecular Genetics of Timothy Syndrome.
Bauer R, Timothy KW, Golden A.
Front Pediatr. 2021 May 17;9:668546. doi: 10.3389/fped.2021.668546. eCollection 2021.
CACNA1C-Related Channelopathies.
Herold KG, Hussey JW, Dick IE.
Handb Exp Pharmacol. 2023;279:159-181. doi: 10.1007/164_2022_624.
Timothy syndrome 1 genotype without syndactyly and major extracardiac manifestations.
Sepp R, Hategan L, Bácsi A, Cseklye J, Környei L, Borbás J, Széll M, Forster T, Nagy I, Hegedűs Z.
Am J Med Genet A. 2017 Mar;173(3):784-789. doi: 10.1002/ajmg.a.38084.
Geno- and phenotypic characteristics and clinical outcomes of CACNA1C gene mutation associated Timothy syndrome, "cardiac only" Timothy syndrome and isolated long QT syndrome 8: A systematic review.
Borbás J, Vámos M, Hategan L, Hanák L, Farkas N, Szakács Z, Csupor D, Tél B, Kupó P, Csányi B, Nagy V, Komócsi A, Habon T, Hegyi P, Sepp R.
Front Cardiovasc Med. 2022 Nov 29;9:1021009. doi: 10.3389/fcvm.2022.1021009. eCollection 2022.
ASO to treat Timothy syndrome.
Crunkhorn S.
Nat Rev Drug Discov. 2024 Jun;23(6):420. doi: 10.1038/d41573-024-00075-7.
Assembly of functionally integrated human forebrain spheroids.
Birey F, Andersen J, Makinson CD, Islam S, Wei W, Huber N, Fan HC, Metzler KRC, Panagiotakos G, Thom N, O'Rourke NA, Steinmetz LM, Bernstein JA, Hallmayer J, Huguenard JR, Paşca SP.
Nature. 2017 May 4;545(7652):54-59. doi: 10.1038/nature22330. Epub 2017 Apr 26.
