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Page 1
Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.
Afawi Z, Oliver KL, Kivity S, Mazarib A, Blatt I, Neufeld MY, Helbig KL, Goldberg-Stern H, Misk AJ, Straussberg R, Walid S, Mahajnah M, Lerman-Sagie T, Ben-Zeev B, Kahana E, Masalha R, Kramer U, Ekstein D, Shorer Z, Wallace RH, Mangelsdorf M, MacPherson JN, Carvill GL, Mefford HC, Jackson GD, Scheffer IE, Bahlo M, Gecz J, Heron SE, Corbett M, Mulley JC, Dibbens LM, Korczyn AD, Berkovic SF. Afawi Z, et al. Among authors: heron se. Neurology. 2016 Feb 23;86(8):713-22. doi: 10.1212/WNL.0000000000002404. Epub 2016 Jan 22. Neurology. 2016. PMID: 26802095 Free PMC article.
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LR, Deprez L, Smets K, Hristova D, Yordanova I, Jordanova A, Ceulemans B, Jansen A, Hasaerts D, Roelens F, Lagae L, Yendle S, Stanley T, Heron SE, Mulley JC, Berkovic SF, Scheffer IE, de Jonghe P. Weckhuysen S, et al. Among authors: heron se. Ann Neurol. 2012 Jan;71(1):15-25. doi: 10.1002/ana.22644. Ann Neurol. 2012. PMID: 22275249
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Møller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE. Muona M, et al. Among authors: heron se. Nat Genet. 2015 Jan;47(1):39-46. doi: 10.1038/ng.3144. Epub 2014 Nov 17. Nat Genet. 2015. PMID: 25401298 Free PMC article.
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.
Grinton BE, Heron SE, Pelekanos JT, Zuberi SM, Kivity S, Afawi Z, Williams TC, Casalaz DM, Yendle S, Linder I, Lev D, Lerman-Sagie T, Malone S, Bassan H, Goldberg-Stern H, Stanley T, Hayman M, Calvert S, Korczyn AD, Shevell M, Scheffer IE, Mulley JC, Berkovic SF. Grinton BE, et al. Among authors: heron se. Epilepsia. 2015 Jul;56(7):1071-80. doi: 10.1111/epi.13020. Epub 2015 May 15. Epilepsia. 2015. PMID: 25982755 Free article.
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: heron se. Neurology. 2012 Nov 20;79(21):2104-8. doi: 10.1212/WNL.0b013e3182752c6c. Epub 2012 Oct 17. Neurology. 2012. PMID: 23077018 Free PMC article.
241 results