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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: espay aj. 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.
Mutations in ZBTB20 cause Primrose syndrome.
Cordeddu V, Redeker B, Stellacci E, Jongejan A, Fragale A, Bradley TE, Anselmi M, Ciolfi A, Cecchetti S, Muto V, Bernardini L, Azage M, Carvalho DR, Espay AJ, Male A, Molin AM, Posmyk R, Battisti C, Casertano A, Melis D, van Kampen A, Baas F, Mannens MM, Bocchinfuso G, Stella L, Tartaglia M, Hennekam RC. Cordeddu V, et al. Among authors: espay aj. Nat Genet. 2014 Aug;46(8):815-7. doi: 10.1038/ng.3035. Epub 2014 Jul 13. Nat Genet. 2014. PMID: 25017102
Which patients with epilepsy are at risk for psychogenic nonepileptic seizures (PNES)? A multicenter case-control study.
Wissel BD, Dwivedi AK, Gaston TE, Rodriguez-Porcel FJ, Aljaafari D, Hopp JL, Krumholz A, van der Salm SMA, Andrade DM, Borlot F, Moseley BD, Cavitt JL, Williams S, Stone J, LaFrance WC Jr, Szaflarski JP, Espay AJ. Wissel BD, et al. Among authors: espay aj. Epilepsy Behav. 2016 Aug;61:180-184. doi: 10.1016/j.yebeh.2016.05.032. Epub 2016 Jun 27. Epilepsy Behav. 2016. PMID: 27362440
Movement disorders phenomenology in focal motor seizures.
Fasano A, Di Bonaventura C, Bove F, Espay AJ, Morgante F, Fabbrini G, Munhoz RP, Andrade D, Borlot F, Bui E, Di Gennaro G, Iorio R, Katzberg H, Luigetti M, Striano P, Defazio G, Berardelli A. Fasano A, et al. Among authors: espay aj. Parkinsonism Relat Disord. 2019 Apr;61:161-165. doi: 10.1016/j.parkreldis.2018.10.021. Epub 2018 Oct 16. Parkinsonism Relat Disord. 2019. PMID: 30361137
419 results