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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: iona x. Brain. 2007 Mar;130(Pt 3):843-52. doi: 10.1093/brain/awm002. Brain. 2007. PMID: 17347258
Timing of de novo mutagenesis--a twin study of sodium-channel mutations.
Vadlamudi L, Dibbens LM, Lawrence KM, Iona X, McMahon JM, Murrell W, Mackay-Sim A, Scheffer IE, Berkovic SF. Vadlamudi L, et al. Among authors: iona x. N Engl J Med. 2010 Sep 30;363(14):1335-40. doi: 10.1056/NEJMoa0910752. N Engl J Med. 2010. PMID: 20879882 Free article.
Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations.
Carranza Rojo D, Harvey AS, Iona X, Dibbens LM, Damiano JA, Arsov T, Gill D, Freeman JL, Leventer RJ, Vincent A, Berkovic SF, McMahon JM, Scheffer IE. Carranza Rojo D, et al. Among authors: iona x. Epilepsy Res. 2012 Jun;100(1-2):194-8. doi: 10.1016/j.eplepsyres.2012.02.007. Epub 2012 Mar 3. Epilepsy Res. 2012. PMID: 22386634
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.
Scheffer IE, Grinton BE, Heron SE, Kivity S, Afawi Z, Iona X, Goldberg-Stern H, Kinali M, Andrews I, Guerrini R, Marini C, Sadleir LG, Berkovic SF, Dibbens LM. Scheffer IE, et al. Among authors: iona x. Neurology. 2012 Nov 20;79(21):2104-8. doi: 10.1212/WNL.0b013e3182752c6c. Epub 2012 Oct 17. Neurology. 2012. PMID: 23077018 Free PMC article.
Do mutations in SCN1B cause Dravet syndrome?
Kim YO, Dibbens L, Marini C, Suls A, Chemaly N, Mei D, McMahon JM, Iona X, Berkovic SF, De Jonghe P, Guerrini R, Nabbout R, Scheffer IE. Kim YO, et al. Among authors: iona x. Epilepsy Res. 2013 Jan;103(1):97-100. doi: 10.1016/j.eplepsyres.2012.10.009. Epub 2012 Nov 20. Epilepsy Res. 2013. PMID: 23182416
17 results