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Items: 1 to 50 of 168

1.

Idiopathic encephalopathy related to status epilepticus during slow sleep (ESES) as a "pure" model of epileptic encephalopathy. An electroclinical, genetic, and follow-up study.

Pavlidis E, Møller RS, Nikanorova M, Kölmel MS, Stendevad P, Beniczky S, Tassinari CA, Rubboli G, Gardella E.

Epilepsy Behav. 2019 Jun 26;97:244-252. doi: 10.1016/j.yebeh.2019.05.030. [Epub ahead of print]

PMID:
31254844
2.

Linking epilepsy, sleep disruption and cognitive impairment in Encephalopathy related to Status Epilepticus during slow Sleep (ESES).

Rubboli G, Tassinari CA.

Epileptic Disord. 2019 Jun 1;21(S1):1-2. doi: 10.1684/epd.2019.1049. No abstract available.

PMID:
31219044
3.

A commentary on Encephalopathy related to Status Epilepticus during slow Sleep: from concepts to terminology.

Tassinari CA, Rubboli G.

Epileptic Disord. 2019 Jun 1;21(S1):13-14. doi: 10.1684/epd.2019.1064. No abstract available.

PMID:
31219043
4.

Encephalopathy related to Status Epilepticus during slow Sleep: current concepts and future directions.

Tassinari CA, Rubboli G.

Epileptic Disord. 2019 Jun 1;21(S1):82-87. doi: 10.1684/epd.2019.1062.

PMID:
31180330
5.

Encephalopathy related to Status Epilepticus during slow Sleep: a link with sleep homeostasis?

Rubboli G, Huber R, Tononi G, Tassinari CA.

Epileptic Disord. 2019 Jun 1;21(S1):62-70. doi: 10.1684/epd.2019.1059.

PMID:
31180328
6.

EEG features in Encephalopathy related to Status Epilepticus during slow Sleep.

Gardella E, Cantalupo G, Larsson PG, Fontana E, Bernardina BD, Rubboli G, Darra F.

Epileptic Disord. 2019 Jun 1;21(S1):22-30. doi: 10.1684/epd.2019.1054.

PMID:
31162114
7.

Encephalopathy related to Status Epilepticus during slow Sleep: an historical introduction.

Rubboli G, Tassinari CA.

Epileptic Disord. 2019 Jun 1;21(S1):3-4. doi: 10.1684/epd.2019.1050. No abstract available.

PMID:
31145077
8.

Treatment Responsiveness in KCNT1-Related Epilepsy.

Fitzgerald MP, Fiannacca M, Smith DM, Gertler TS, Gunning B, Syrbe S, Verbeek N, Stamberger H, Weckhuysen S, Ceulemans B, Schoonjans AS, Rossi M, Demarquay G, Lesca G, Olofsson K, Koolen DA, Hornemann F, Baulac S, Rubboli G, Minks KQ, Lee B, Helbig I, Dlugos D, Møller RS, Bearden D.

Neurotherapeutics. 2019 May 3. doi: 10.1007/s13311-019-00739-y. [Epub ahead of print]

PMID:
31054119
9.

The spectrum of intermediate SCN8A-related epilepsy.

Johannesen KM, Gardella E, Encinas AC, Lehesjoki AE, Linnankivi T, Petersen MB, Lund ICB, Blichfeldt S, Miranda MJ, Pal DK, Lascelles K, Procopis P, Orsini A, Bonuccelli A, Giacomini T, Helbig I, Fenger CD, Sisodiya SM, Hernandez-Hernandez L, Krithika S, Rumple M, Masnada S, Valente M, Cereda C, Giordano L, Accorsi P, Bürki SE, Mancardi M, Korff C, Guerrini R, von Spiczak S, Hoffman-Zacharska D, Mazurczak T, Coppola A, Buono S, Vecchi M, Hammer MF, Varesio C, Veggiotti P, Lal D, Brünger T, Zara F, Striano P, Rubboli G, Møller RS.

Epilepsia. 2019 May;60(5):830-844. doi: 10.1111/epi.14705. Epub 2019 Apr 10.

PMID:
30968951
10.

Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations.

Rubboli G, Plazzi G, Picard F, Nobili L, Hirsch E, Chelly J, Prayson RA, Boutonnat J, Bramerio M, Kahane P, Dibbens LM, Gardella E, Baulac S, Møller RS.

Ann Clin Transl Neurol. 2018 Dec 25;6(2):386-391. doi: 10.1002/acn3.708. eCollection 2019 Feb.

11.

From next-generation sequencing to targeted treatment of non-acquired epilepsies.

Møller RS, Hammer TB, Rubboli G, Lemke JR, Johannesen KM.

Expert Rev Mol Diagn. 2019 Mar;19(3):217-228. doi: 10.1080/14737159.2019.1573144. Epub 2019 Feb 4.

PMID:
30661434
12.

Electromagnetic source imaging in presurgical workup of patients with epilepsy: A prospective study.

Duez L, Tankisi H, Hansen PO, Sidenius P, Sabers A, Pinborg LH, Fabricius M, Rásonyi G, Rubboli G, Pedersen B, Leffers AM, Uldall P, Jespersen B, Brennum J, Henriksen OM, Fuglsang-Frederiksen A, Beniczky S.

Neurology. 2019 Feb 5;92(6):e576-e586. doi: 10.1212/WNL.0000000000006877. Epub 2019 Jan 4.

13.

Automated EEG source imaging: A retrospective, blinded clinical validation study.

Baroumand AG, van Mierlo P, Strobbe G, Pinborg LH, Fabricius M, Rubboli G, Leffers AM, Uldall P, Jespersen B, Brennum J, Henriksen OM, Beniczky S.

Clin Neurophysiol. 2018 Nov;129(11):2403-2410. doi: 10.1016/j.clinph.2018.09.015. Epub 2018 Sep 24.

14.

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.

Genet Med. 2018 Sep 27. doi: 10.1038/s41436-018-0325-9. [Epub ahead of print]

PMID:
30262923
15.

The phenotype of SCN8A developmental and epileptic encephalopathy.

Gardella E, Marini C, Trivisano M, Fitzgerald MP, Alber M, Howell KB, Darra F, Siliquini S, Bölsterli BK, Masnada S, Pichiecchio A, Johannesen KM, Jepsen B, Fontana E, Anibaldi G, Russo S, Cogliati F, Montomoli M, Specchio N, Rubboli G, Veggiotti P, Beniczky S, Wolff M, Helbig I, Vigevano F, Scheffer IE, Guerrini R, Møller RS.

Neurology. 2018 Sep 18;91(12):e1112-e1124. doi: 10.1212/WNL.0000000000006199. Epub 2018 Aug 31.

PMID:
30171078
16.

Correction to: 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, Martin AS, 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 E, Jansen F, Braun K, 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, 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.

Genet Med. 2019 Jul;21(7):1671. doi: 10.1038/s41436-018-0284-1.

PMID:
30158694
17.

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 E, 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, Nordli DR Jr, 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.

Genet Med. 2019 Feb;21(2):398-408. doi: 10.1038/s41436-018-0060-2. Epub 2018 Aug 10. Erratum in: Genet Med. 2018 Aug 29;:. Genet Med. 2018 Sep 27;:.

18.

Ictal and interictal electric source imaging in pre-surgical evaluation: a prospective study.

Sharma P, Scherg M, Pinborg LH, Fabricius M, Rubboli G, Pedersen B, Leffers AM, Uldall P, Jespersen B, Brennum J, Henriksen OM, Beniczky S.

Eur J Neurol. 2018 Sep;25(9):1154-1160. doi: 10.1111/ene.13676. Epub 2018 Jun 8.

PMID:
29751364
19.

Early mortality in SCN8A-related epilepsies.

Johannesen KM, Gardella E, Scheffer I, Howell K, Smith DM, Helbig I, Møller RS, Rubboli G.

Epilepsy Res. 2018 Jul;143:79-81. doi: 10.1016/j.eplepsyres.2018.04.008. Epub 2018 Apr 13.

PMID:
29677576
20.

[Epilepsy surgery].

Pinborg LH, Jespersen B, Beniczky S, Fabricius M, Rasonyi G, Uldall P, Tsiropoulos I, Leffers AM, Madsen C, Foged M, Ziebell M, Henriksen O, Jørgensen M, Vinter K, Stauning L, Broholm H, Brennum J, Sabers A, Rubboli G.

Ugeskr Laeger. 2018 Mar 26;180(13). pii: V09170653. Review. Danish.

PMID:
29587957
21.

Corrigendum to "Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study" [Epilepsy Behav. Oct 2017; 75C:151-157].

Barba C, Specchio N, Guerrini R, Tassi L, DeMasi S, Cardinale F, Pellacani S, De Palma L, Battaglia D, Tamburrini G, Didato G, Freri E, Consales A, Nozza P, Zamponi N, Cesaroni E, Di Gennaro G, Esposito V, Giulioni M, Tinuper P, Colicchio G, Rocchi R, Rubboli G, Giordano F, Russo GL, Marras CE, Cossu M.

Epilepsy Behav. 2018 Mar;80:380. doi: 10.1016/j.yebeh.2018.02.021. No abstract available.

PMID:
29525723
22.

Clinical utility of EEG in diagnosing and monitoring epilepsy in adults.

Tatum WO, Rubboli G, Kaplan PW, Mirsatari SM, Radhakrishnan K, Gloss D, Caboclo LO, Drislane FW, Koutroumanidis M, Schomer DL, Kasteleijn-Nolst Trenite D, Cook M, Beniczky S.

Clin Neurophysiol. 2018 May;129(5):1056-1082. doi: 10.1016/j.clinph.2018.01.019. Epub 2018 Feb 1. Review.

PMID:
29483017
23.

The role of EEG in the diagnosis and classification of the epilepsy syndromes: a tool for clinical practice by the ILAE Neurophysiology Task Force (Part 2).

Koutroumanidis M, Arzimanoglou A, Caraballo R, Goyal S, Kaminska A, Laoprasert P, Oguni H, Rubboli G, Tatum W, Thomas P, Trinka E, Vignatelli L, Moshé SL.

Epileptic Disord. 2017 Dec 1;19(4):385-437. doi: 10.1684/epd.2017.0952.

24.
25.

Defining the phenotypic spectrum of SLC6A1 mutations.

Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL 2nd, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS.

Epilepsia. 2018 Feb;59(2):389-402. doi: 10.1111/epi.13986. Epub 2018 Jan 8.

26.

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

Masnada S, Hedrich UBS, Gardella E, Schubert J, Kaiwar C, Klee EW, Lanpher BC, Gavrilova RH, Synofzik M, Bast T, Gorman K, King MD, Allen NM, Conroy J, Ben Zeev B, Tzadok M, Korff C, Dubois F, Ramsey K, Narayanan V, Serratosa JM, Giraldez BG, Helbig I, Marsh E, O'Brien M, Bergqvist CA, Binelli A, Porter B, Zaeyen E, Horovitz DD, Wolff M, Marjanovic D, Caglayan HS, Arslan M, Pena SDJ, Sisodiya SM, Balestrini S, Syrbe S, Veggiotti P, Lemke JR, Møller RS, Lerche H, Rubboli G.

Brain. 2017 Sep 1;140(9):2337-2354. doi: 10.1093/brain/awx184.

PMID:
29050392
27.

The role of EEG in the diagnosis and classification of the epilepsy syndromes: a tool for clinical practice by the ILAE Neurophysiology Task Force (Part 1).

Koutroumanidis M, Arzimanoglou A, Caraballo R, Goyal S, Kaminska A, Laoprasert P, Oguni H, Rubboli G, Tatum W, Thomas P, Trinka E, Vignatelli L, Moshé SL.

Epileptic Disord. 2017 Sep 1;19(3):233-298. doi: 10.1684/epd.2017.0935.

28.

Remission of encephalopathy with status epilepticus (ESES) during sleep renormalizes regulation of slow wave sleep.

Bölsterli BK, Gardella E, Pavlidis E, Wehrle FM, Tassinari CA, Huber R, Rubboli G.

Epilepsia. 2017 Nov;58(11):1892-1901. doi: 10.1111/epi.13910. Epub 2017 Sep 27.

29.

Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study.

Barba C, Specchio N, Guerrini R, Tassi L, De Masi S, Cardinale F, Pellacani S, De Palma L, Battaglia D, Tamburrini G, Didato G, Freri E, Consales A, Nozza P, Zamponi N, Cesaroni E, Di Gennaro G, Esposito V, Giulioni M, Tinuper P, Colicchio G, Rocchi R, Rubboli G, Giordano F, Lo Russo G, Marras CE, Cossu M.

Epilepsy Behav. 2017 Oct;75:151-157. doi: 10.1016/j.yebeh.2017.08.010. Epub 2017 Sep 15. Erratum in: Epilepsy Behav. 2018 Mar;80:380.

PMID:
28866334
30.

Standardized computer-based organized reporting of EEG: SCORE - Second version.

Beniczky S, Aurlien H, Brøgger JC, Hirsch LJ, Schomer DL, Trinka E, Pressler RM, Wennberg R, Visser GH, Eisermann M, Diehl B, Lesser RP, Kaplan PW, Nguyen The Tich S, Lee JW, Martins-da-Silva A, Stefan H, Neufeld M, Rubboli G, Fabricius M, Gardella E, Terney D, Meritam P, Eichele T, Asano E, Cox F, van Emde Boas W, Mameniskiene R, Marusic P, Zárubová J, Schmitt FC, Rosén I, Fuglsang-Frederiksen A, Ikeda A, MacDonald DB, Terada K, Ugawa Y, Zhou D, Herman ST.

Clin Neurophysiol. 2017 Nov;128(11):2334-2346. doi: 10.1016/j.clinph.2017.07.418. Epub 2017 Aug 9. Review.

31.

Management of Antiepileptic Treatment After Epilepsy Surgery - Practices and Problems.

Rubboli G, Sabers A, Uldall P, Malmgren K.

Curr Pharm Des. 2017;23(37):5749-5759. doi: 10.2174/1381612823666170823111712. Review.

PMID:
28831924
32.

Epilepsy surgery of "low grade epilepsy associated neuroepithelial tumors": A retrospective nationwide Italian study.

Giulioni M, Marucci G, Pelliccia V, Gozzo F, Barba C, Didato G, Villani F, Di Gennaro G, Quarato PP, Esposito V, Consales A, Martinoni M, Vornetti G, Zenesini C, Efisio Marras C, Specchio N, De Palma L, Rocchi R, Giordano F, Tringali G, Nozza P, Colicchio G, Rubboli G, Lo Russo G, Guerrini R, Tinuper P, Cardinale F, Cossu M; Commission for Epilepsy Surgery of the Italian League Against Epilepsy.

Epilepsia. 2017 Nov;58(11):1832-1841. doi: 10.1111/epi.13866. Epub 2017 Aug 14.

33.

The new ILAE seizure classification: 63 seizure types?

Beniczky S, Rubboli G, Aurlien H, Hirsch LJ, Trinka E, Schomer DL; SCORE consortium.

Epilepsia. 2017 Jul;58(7):1298-1300. doi: 10.1111/epi.13799. No abstract available.

34.

Alternating hemiplegia of childhood and a pathogenic variant of ATP1A3: a case report and pathophysiological considerations.

Pavlidis E, Uldall P, Gøbel Madsen C, Nikanorova M, Fabricius M, Høgenhaven H, Pisani F, Møller RS, Gardella E, Rubboli G.

Epileptic Disord. 2017 Jun 1;19(2):226-230. doi: 10.1684/epd.2017.0913.

35.

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.

Oliver KL, Franceschetti S, Milligan CJ, Muona M, Mandelstam SA, Canafoglia L, Boguszewska-Chachulska AM, Korczyn AD, Bisulli F, Di Bonaventura C, Ragona F, Michelucci R, Ben-Zeev B, Straussberg R, Panzica F, Massano J, Friedman D, Crespel A, Engelsen BA, Andermann F, Andermann E, Spodar K, Lasek-Bal A, Riguzzi P, Pasini E, Tinuper P, Licchetta L, Gardella E, Lindenau M, Wulf A, Møller RS, Benninger F, Afawi Z, Rubboli G, Reid CA, Maljevic S, Lerche H, Lehesjoki AE, Petrou S, Berkovic SF.

Ann Neurol. 2017 May;81(5):677-689. doi: 10.1002/ana.24929.

PMID:
28380698
36.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS.

Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054.

PMID:
28379373
37.

Prevalence of Sleep-Related Hypermotor Epilepsy-Formerly Named Nocturnal Frontal Lobe Epilepsy-in the Adult Population of the Emilia-Romagna Region, Italy.

Vignatelli L, Bisulli F, Giovannini G, Licchetta L, Naldi I, Mostacci B, Rubboli G, Provini F, Tinuper P, Meletti S.

Sleep. 2017 Feb 1;40(2). doi: 10.1093/sleep/zsw041. No abstract available.

PMID:
28364515
38.

Perampanel in refractory epilepsies: what real-life experience tells us.

Rubboli G.

Dev Med Child Neurol. 2017 Apr;59(4):352-353. doi: 10.1111/dmcn.13384. Epub 2017 Jan 27. No abstract available.

39.

Current standards of neuropsychological assessment in epilepsy surgery centers across Europe.

Vogt VL, Äikiä M, Del Barrio A, Boon P, Borbély C, Bran E, Braun K, Carette E, Clark M, Cross JH, Dimova P, Fabo D, Foroglou N, Francione S, Gersamia A, Gil-Nagel A, Guekht A, Harrison S, Hecimovic H, Heminghyt E, Hirsch E, Javurkova A, Kälviäinen R, Kavan N, Kelemen A, Kimiskidis VK, Kirschner M, Kleitz C, Kobulashvili T, Kosmidis MH, Kurtish SY, Lesourd M, Ljunggren S, Lossius MI, Malmgren K, Mameniskiené R, Martin-Sanfilippo P, Marusic P, Miatton M, Özkara Ç, Pelle F, Rubboli G, Rudebeck S, Ryvlin P, van Schooneveld M, Schmid E, Schmidt PM, Seeck M, Steinhoff BJ, Shavel-Jessop S, Tarta-Arsene O, Trinka E, Viggedal G, Wendling AS, Witt JA, Helmstaedter C; E-PILEPSY consortium.

Epilepsia. 2017 Mar;58(3):343-355. doi: 10.1111/epi.13646. Epub 2017 Jan 9.

40.

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

Møller RS, Wuttke TV, Helbig I, Marini C, Johannesen KM, Brilstra EH, Vaher U, Borggraefe I, Talvik I, Talvik T, Kluger G, Francois LL, Lesca G, de Bellescize J, Blichfeldt S, Chatron N, Holert N, Jacobs J, Swinkels M, Betzler C, Syrbe S, Nikanorova M, Myers CT, Larsen LH, Vejzovic S, Pendziwiat M, von Spiczak S, Hopkins S, Dubbs H, Mang Y, Mukhin K, Holthausen H, van Gassen KL, Dahl HA, Tommerup N, Mefford HC, Rubboli G, Guerrini R, Lemke JR, Lerche H, Muhle H, Maljevic S.

Neurology. 2017 Jan 31;88(5):483-492. doi: 10.1212/WNL.0000000000003565. Epub 2017 Jan 4.

41.

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.

Møller RS, Weckhuysen S, Chipaux M, Marsan E, Taly V, Bebin EM, Hiatt SM, Prokop JW, Bowling KM, Mei D, Conti V, de la Grange P, Ferrand-Sorbets S, Dorfmüller G, Lambrecq V, Larsen LH, Leguern E, Guerrini R, Rubboli G, Cooper GM, Baulac S.

Neurol Genet. 2016 Oct 31;2(6):e118. eCollection 2016 Dec.

42.

Is autopsy tissue a valid control for epilepsy surgery tissue in microRNA studies?

Roncon P, Zucchini S, Ferracin M, Marucci G, Giulioni M, Michelucci R, Rubboli G, Simonato M.

Epilepsia Open. 2016 Nov 9;2(1):90-95. doi: 10.1002/epi4.12023. eCollection 2017 Mar.

43.

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

Møller RS, Larsen LH, Johannesen KM, Talvik I, Talvik T, Vaher U, Miranda MJ, Farooq M, Nielsen JE, Svendsen LL, Kjelgaard DB, Linnet KM, Hao Q, Uldall P, Frangu M, Tommerup N, Baig SM, Abdullah U, Born AP, Gellert P, Nikanorova M, Olofsson K, Jepsen B, Marjanovic D, Al-Zehhawi LI, Peñalva SJ, Krag-Olsen B, Brusgaard K, Hjalgrim H, Rubboli G, Pal DK, Dahl HA.

Mol Syndromol. 2016 Sep;7(4):210-219. Epub 2016 Aug 20.

44.

Neurophysiology of myoclonus and progressive myoclonus epilepsies.

Avanzini G, Shibasaki H, Rubboli G, Canafoglia L, Panzica F, Franceschetti S, Hallett M.

Epileptic Disord. 2016 Sep 1;18(S2):11-27. Review.

PMID:
27702708
45.

GOSR2: a progressive myoclonus epilepsy gene.

Dibbens LM, Rubboli G.

Epileptic Disord. 2016 Sep 1;18(S2):111-114. Review.

PMID:
27618868
46.

SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome.

Dibbens L, Schwake M, Saftig P, Rubboli G.

Epileptic Disord. 2016 Sep 1;18(S2):63-72. Review.

PMID:
27582254
47.

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

Johannesen K, Marini C, Pfeffer S, Møller RS, Dorn T, Niturad CE, Gardella E, Weber Y, Søndergård M, Hjalgrim H, Nikanorova M, Becker F, Larsen LH, Dahl HA, Maier O, Mei D, Biskup S, Klein KM, Reif PS, Rosenow F, Elias AF, Hudson C, Helbig KL, Schubert-Bast S, Scordo MR, Craiu D, Djémié T, Hoffman-Zacharska D, Caglayan H, Helbig I, Serratosa J, Striano P, De Jonghe P, Weckhuysen S, Suls A, Muru K, Talvik I, Talvik T, Muhle H, Borggraefe I, Rost I, Guerrini R, Lerche H, Lemke JR, Rubboli G, Maljevic S.

Neurology. 2016 Sep 13;87(11):1140-51. doi: 10.1212/WNL.0000000000003087. Epub 2016 Aug 12.

PMID:
27521439
48.

Testing patients during seizures: A European consensus procedure developed by a joint taskforce of the ILAE - Commission on European Affairs and the European Epilepsy Monitoring Unit Association.

Beniczky S, Neufeld M, Diehl B, Dobesberger J, Trinka E, Mameniskiene R, Rheims S, Gil-Nagel A, Craiu D, Pressler R, Krysl D, Lebedinsky A, Tassi L, Rubboli G, Ryvlin P.

Epilepsia. 2016 Sep;57(9):1363-8. doi: 10.1111/epi.13472. Epub 2016 Jul 21.

49.

Looking at the muscle to find out what is happening in the brain.

Rubboli G, Krämer G.

Clin Neurophysiol. 2016 Aug;127(8):2898-2899. doi: 10.1016/j.clinph.2016.05.008. Epub 2016 May 25. No abstract available.

PMID:
27287884
50.

Current practices in long-term video-EEG monitoring services: A survey among partners of the E-PILEPSY pilot network of reference for refractory epilepsy and epilepsy surgery.

Kobulashvili T, Höfler J, Dobesberger J, Ernst F, Ryvlin P, Cross JH, Braun K, Dimova P, Francione S, Hecimovic H, Helmstaedter C, Kimiskidis VK, Lossius MI, Malmgren K, Marusic P, Steinhoff BJ, Boon P, Craiu D, Delanty N, Fabo D, Gil-Nagel A, Guekht A, Hirsch E, Kalviainen R, Mameniskiené R, Özkara Ç, Seeck M, Rubboli G, Krsek P, Rheims S, Trinka E.

Seizure. 2016 May;38:38-45. doi: 10.1016/j.seizure.2016.03.009. Epub 2016 Apr 1.

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