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Page 1
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
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.
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.
Milligan CJ, Li M, Gazina EV, Heron SE, Nair U, Trager C, Reid CA, Venkat A, Younkin DP, Dlugos DJ, Petrovski S, Goldstein DB, Dibbens LM, Scheffer IE, Berkovic SF, Petrou S. Milligan CJ, et al. Among authors: heron se. Ann Neurol. 2014 Apr;75(4):581-90. doi: 10.1002/ana.24128. Epub 2014 Apr 14. Ann Neurol. 2014. PMID: 24591078 Free PMC article.
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Gardella E, Becker F, Møller RS, Schubert J, Lemke JR, Larsen LH, Eiberg H, Nothnagel M, Thiele H, Altmüller J, Syrbe S, Merkenschlager A, Bast T, Steinhoff B, Nürnberg P, Mang Y, Bakke Møller L, Gellert P, Heron SE, Dibbens LM, Weckhuysen S, Dahl HA, Biskup S, Tommerup N, Hjalgrim H, Lerche H, Beniczky S, Weber YG. Gardella E, et al. Among authors: heron se. Ann Neurol. 2016 Mar;79(3):428-36. doi: 10.1002/ana.24580. Epub 2016 Feb 13. Ann Neurol. 2016. PMID: 26677014
55 results