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Correction: The landscape of epilepsy-related GATOR1 variants.
Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks EH, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, NordliJr DR, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S. Baldassari S, et al. Among authors: gambardella a. Genet Med. 2019 Aug;21(8):1896. doi: 10.1038/s41436-018-0325-9. Genet Med. 2019. PMID: 30262923 Free PMC article.
Analysis of LGI1 promoter sequence, PDYN and GABBR1 polymorphisms in sporadic and familial lateral temporal lobe epilepsy.
Bovo G, Diani E, Bisulli F, Di Bonaventura C, Striano P, Gambardella A, Ferlazzo E, Egeo G, Mecarelli O, Elia M, Bianchi A, Bortoluzzi S, Vettori A, Aguglia U, Binelli S, De Falco A, Coppola G, Gobbi G, Sofia V, Striano S, Tinuper P, Giallonardo AT, Michelucci R, Nobile C. Bovo G, et al. Among authors: gambardella a. Neurosci Lett. 2008 May 2;436(1):23-6. doi: 10.1016/j.neulet.2008.02.045. Epub 2008 Mar 4. Neurosci Lett. 2008. PMID: 18355961
Autosomal dominant lateral temporal epilepsy: absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins.
Diani E, Di Bonaventura C, Mecarelli O, Gambardella A, Elia M, Bovo G, Bisulli F, Pinardi F, Binelli S, Egeo G, Castellotti B, Striano P, Striano S, Bianchi A, Ferlazzo E, Vianello V, Coppola G, Aguglia U, Tinuper P, Giallonardo AT, Michelucci R, Nobile C. Diani E, et al. Among authors: gambardella a. Epilepsy Res. 2008 Jul;80(1):1-8. doi: 10.1016/j.eplepsyres.2008.03.001. Epub 2008 Apr 28. Epilepsy Res. 2008. PMID: 18440780
Prognostic factors in patients with mesial temporal lobe epilepsy.
Pittau F, Bisulli F, Mai R, Fares JE, Vignatelli L, Labate A, Naldi I, Avoni P, Parmeggiani A, Santucci M, Capannelli D, Di Vito L, Gambardella A, Baruzzi A, Tinuper P. Pittau F, et al. Among authors: gambardella a. Epilepsia. 2009 Jan;50 Suppl 1:41-4. doi: 10.1111/j.1528-1167.2008.01969.x. Epilepsia. 2009. PMID: 19125847 Free article.
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy.
Picard F, Makrythanasis P, Navarro V, Ishida S, de Bellescize J, Ville D, Weckhuysen S, Fosselle E, Suls A, De Jonghe P, Vasselon Raina M, Lesca G, Depienne C, An-Gourfinkel I, Vlaicu M, Baulac M, Mundwiller E, Couarch P, Combi R, Ferini-Strambi L, Gambardella A, Antonarakis SE, Leguern E, Steinlein O, Baulac S. Picard F, et al. Among authors: gambardella a. Neurology. 2014 Jun 10;82(23):2101-6. doi: 10.1212/WNL.0000000000000488. Epub 2014 May 9. Neurology. 2014. PMID: 24814846
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: gambardella a. 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.
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy.
Mumoli L, Tarantino P, Michelucci R, Bianchi A, Labate A, Franceschetti S, Marini C, Striano P, Gagliardi M, Ferlazzo E, Sofia V, Pennese L, Annesi G, Aguglia U, Guerrini R, Zara F, Gambardella A; Genetic Commission, Italian League Against Epilepsy. Mumoli L, et al. Among authors: gambardella a. Epilepsia. 2015 Apr;56(4):e40-3. doi: 10.1111/epi.12944. Epub 2015 Mar 6. Epilepsia. 2015. PMID: 25752200 Free article.
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy.
Hildebrand MS, Tankard R, Gazina EV, Damiano JA, Lawrence KM, Dahl HH, Regan BM, Shearer AE, Smith RJ, Marini C, Guerrini R, Labate A, Gambardella A, Tinuper P, Lichetta L, Baldassari S, Bisulli F, Pippucci T, Scheffer IE, Reid CA, Petrou S, Bahlo M, Berkovic SF. Hildebrand MS, et al. Among authors: gambardella a. Ann Clin Transl Neurol. 2015 Aug;2(8):821-30. doi: 10.1002/acn3.224. Epub 2015 Jul 3. Ann Clin Transl Neurol. 2015. PMID: 26339676 Free PMC article.
718 results