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293 results

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Page 1
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.
Lemke JR, Hendrickx R, Geider K, Laube B, Schwake M, Harvey RJ, James VM, Pepler A, Steiner I, Hörtnagel K, Neidhardt J, Ruf S, Wolff M, Bartholdi D, Caraballo R, Platzer K, Suls A, De Jonghe P, Biskup S, Weckhuysen S. Lemke JR, et al. Among authors: caraballo r. Ann Neurol. 2014 Jan;75(1):147-54. doi: 10.1002/ana.24073. Epub 2014 Jan 2. Ann Neurol. 2014. PMID: 24272827 Free PMC article.
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jähn JA, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Møller RS, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, Guerrero López R, Serratosa JM, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer C, Sperner J, Becker F, Weber YG, Feucht M, Steinböck H, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Herms S, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S. Lemke JR, et al. Among authors: caraballo r. Nat Genet. 2013 Sep;45(9):1067-72. doi: 10.1038/ng.2728. Epub 2013 Aug 11. Nat Genet. 2013. PMID: 23933819
Idiopathic focal epilepsies: the "lost tribe".
Pal DK, Ferrie C, Addis L, Akiyama T, Capovilla G, Caraballo R, de Saint-Martin A, Fejerman N, Guerrini R, Hamandi K, Helbig I, Ioannides AA, Kobayashi K, Lal D, Lesca G, Muhle H, Neubauer BA, Pisano T, Rudolf G, Seegmuller C, Shibata T, Smith A, Striano P, Strug LJ, Szepetowski P, Valeta T, Yoshinaga H, Koutroumanidis M. Pal DK, et al. Among authors: caraballo r. Epileptic Disord. 2016 Sep 1;18(3):252-88. doi: 10.1684/epd.2016.0839. Epileptic Disord. 2016. PMID: 27435520 Review. English.
Intracranial tumors and West syndrome.
Ruggieri V, Caraballo R, Fejerman N. Ruggieri V, et al. Among authors: caraballo r. Pediatr Neurol. 1989 Sep-Oct;5(5):327-9. doi: 10.1016/0887-8994(89)90029-5. Pediatr Neurol. 1989. PMID: 2553029
Electroclinical Features and Long-term Seizure Outcome in Patients With Eyelid Myoclonia With Absences.
Cerulli Irelli E, Cocchi E, Ramantani G, Caraballo RH, Giuliano L, Yilmaz T, Morano A, Panagiotakaki E, Operto FF, Gonzalez Giraldez B, Silvennoinen K, Casciato S, Comajuan M, Balestrini S, Fortunato F, Coppola A, Di Gennaro G, Labate A, Sofia V, Kluger GJ, Kasteleijn-Nolst Trenité DGA, Gambardella A, Baykan B, Sisodiya SM, Arzimanoglou A, Striano P, Di Bonaventura C; EMA Study Group. Cerulli Irelli E, et al. Neurology. 2022 May 3;98(18):e1865-e1876. doi: 10.1212/WNL.0000000000200165. Epub 2022 Mar 15. Neurology. 2022. PMID: 35292555
Vigabatrin as a first-choice drug in the treatment of West syndrome.
Fejerman N, Cersósimo R, Caraballo R, Grippo J, Corral S, Martino RH, Martino G, Aldao M, Caccia P, Retamero M, Macat MC, Di Blasi MA, Adi J. Fejerman N, et al. Among authors: caraballo r. J Child Neurol. 2000 Mar;15(3):161-5. doi: 10.1177/088307380001500304. J Child Neurol. 2000. PMID: 10757471 Review.
PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.
Cloarec R, Bruneau N, Rudolf G, Massacrier A, Salmi M, Bataillard M, Boulay C, Caraballo R, Fejerman N, Genton P, Hirsch E, Hunter A, Lesca G, Motte J, Roubertie A, Sanlaville D, Wong SW, Fu YH, Rochette J, Ptácek LJ, Szepetowski P. Cloarec R, et al. Among authors: caraballo r. Neurology. 2012 Nov 20;79(21):2097-103. doi: 10.1212/WNL.0b013e3182752c46. Epub 2012 Oct 17. Neurology. 2012. PMID: 23077017 Free PMC article.
A microRNA-328 binding site in PAX6 is associated with centrotemporal spikes of rolandic epilepsy.
Panjwani N, Wilson MD, Addis L, Crosbie J, Wirrell E, Auvin S, Caraballo RH, Kinali M, McCormick D, Oren C, Taylor J, Trounce J, Clarke T, Akman CI, Kugler SL, Mandelbaum DE, McGoldrick P, Wolf SM, Arnold P, Schachar R, Pal DK, Strug LJ. Panjwani N, et al. Among authors: caraballo rh. Ann Clin Transl Neurol. 2016 Jun 2;3(7):512-22. doi: 10.1002/acn3.320. eCollection 2016 Jul. Ann Clin Transl Neurol. 2016. PMID: 27386500 Free PMC article.
293 results