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De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Sleyp Y, Valenzuela I, Accogli A, Ballon K, Ben-Zeev B, Berkovic SF, Broly M, Callaerts P, Caylor RC, Charles P, Chatron N, Cohen L, Coppola A, Cordeiro D, Cuccurullo C, Cuscó I, Janette diMonda, Duran-Romaña R, Ekhilevitch N, Fernández-Alvarez P, Gordon CT, Isidor B, Keren B, Lesca G, Maljaars J, Mercimek-Andrews S, Morrow MM, Muir AM; University of Washington Center for Mendelian Genomics; Rousseau F, Salpietro V, Scheffer IE, Schnur RE, Schymkowitz J, Souche E, Steyaert J, Stolerman ES, Vengoechea J, Ville D, Washington C, Weiss K, Zaid R, Sadleir LG, Mefford HC, Peeters H. Sleyp Y, et al. Among authors: sadleir lg. Genet Med. 2022 Dec;24(12):2464-2474. doi: 10.1016/j.gim.2022.08.020. Epub 2022 Oct 11. Genet Med. 2022. PMID: 36214804 Free article.
Febrile seizures.
Sadleir LG, Scheffer IE. Sadleir LG, et al. BMJ. 2007 Feb 10;334(7588):307-11. doi: 10.1136/bmj.39087.691817.AE. BMJ. 2007. PMID: 17289734 Free PMC article. Review. No abstract available.
The spectrum of SCN1A-related infantile epileptic encephalopathies.
Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM, Sadleir LG, Andermann E, Gill D, Farrell K, Connolly M, Stanley T, Harbord M, Andermann F, Wang J, Batish SD, Jones JG, Seltzer WK, Gardner A; Infantile Epileptic Encephalopathy Referral Consortium; Sutherland G, Berkovic SF, Mulley JC, Scheffer IE. Harkin LA, et al. Among authors: sadleir lg. Brain. 2007 Mar;130(Pt 3):843-52. doi: 10.1093/brain/awm002. Brain. 2007. PMID: 17347258
Factors influencing clinical features of absence seizures.
Sadleir LG, Scheffer IE, Smith S, Carstensen B, Carlin J, Connolly MB, Farrell K. Sadleir LG, et al. Epilepsia. 2008 Dec;49(12):2100-7. doi: 10.1111/j.1528-1167.2008.01708.x. Epub 2008 Jun 26. Epilepsia. 2008. PMID: 18616552 Free article.
Electroclinical features of absence seizures in sleep.
Sadleir LG, Farrell K, Smith S, Connolly MB, Scheffer IE. Sadleir LG, et al. Epilepsy Res. 2011 Feb;93(2-3):216-20. doi: 10.1016/j.eplepsyres.2010.12.009. Epub 2011 Jan 20. Epilepsy Res. 2011. PMID: 21255980
Rare copy number variants are an important cause of epileptic encephalopathies.
Mefford HC, Yendle SC, Hsu C, Cook J, Geraghty E, McMahon JM, Eeg-Olofsson O, Sadleir LG, Gill D, Ben-Zeev B, Lerman-Sagie T, Mackay M, Freeman JL, Andermann E, Pelakanos JT, Andrews I, Wallace G, Eichler EE, Berkovic SF, Scheffer IE. Mefford HC, et al. Among authors: sadleir lg. Ann Neurol. 2011 Dec;70(6):974-85. doi: 10.1002/ana.22645. Ann Neurol. 2011. PMID: 22190369 Free PMC article.
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