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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.
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
125 results