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De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogné B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, Lachmeijer AMA, Lees M, Lynch SA, Martinez F, Matsumoto N, McDougall C, Mefford HC, Miyake N, Myers CT, Moutton S, Nesbitt A, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Santani AB, Sarkar A, Scheffer IE, Shinawi M, Steindl K, Symonds JD, Zackai EH; University of Washington Center for Mendelian Genomics; DDD Study; Reis A, Sticht H, Zweier C. Gregor A, et al. Among authors: sadleir lg. Am J Hum Genet. 2018 Aug 2;103(2):305-316. doi: 10.1016/j.ajhg.2018.07.003. Epub 2018 Jul 26. Am J Hum Genet. 2018. PMID: 30057029 Free PMC 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.
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.
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, Pridmore C, Hodgson BL, Iona X, Sadleir LG, Pelekanos J, Herlenius E, Goldberg-Stern H, Bassan H, Haan E, Korczyn AD, Gardner AE, Corbett MA, Gécz J, Thomas PQ, Mulley JC, Berkovic SF, Scheffer IE, Dibbens LM. Heron SE, et al. Among authors: sadleir lg. Am J Hum Genet. 2012 Jan 13;90(1):152-60. doi: 10.1016/j.ajhg.2011.12.003. Am J Hum Genet. 2012. PMID: 22243967 Free PMC article.
119 results