Glukosetransporter 1-mangelsyndrom har et varieret klinisk billede
Authors: Jan Larsen, Vibeke Stubbings, Rikke Steensbjerre Møller & Helle Hjalgrim
Ugeskr Læger 2013;175:V04130248
Rosenzweig I, Kempton MJ, Crum WR, Glasser M, Milosevic M, Beniczky S, Corfield DR, Williams SC, Morrell MJ.
PLoS One. 2013 Dec 13;8(12):e83173. doi: 10.1371/journal.pone.0083173.
Hoeffding LK, Hansen T, Ingason A, Doung L, Thygesen JH, Møller RS, Tommerup N, Kirov G, Rujescu D, Larsen LA, Werge T.
Am J Med Genet B Neuropsychiatr Genet. 2014 Jan;165(1):52-61. doi: 10.1002/ajmg.b.32204. Epub 2013 Sep 25.
Epileptic encephalopathy as models of system epilepsy
Capovilla G, Mosh_e S, Wolf P, and Avanzini G
Epilepsia 54(Suppl. 8): 2-5, 2013
The history of the concept of epileptic encephalopathy
Capovilla G, Wolf P, Beccaria F, Avanzini G
Epilepsia 54(Suppl. 8):2–5, 2013
Wolf P.
Epilepsia. 2013 Mar;54(3):415-24. doi: 10.1111/epi.12051. Epub 2013 Jan 7
Non-Pharmacological Therapy of Epilepsy
Wolf P, Lin K, Nikanorova M
Oxford University Press
Helbig I, Swinkels ME, Aten E, Caliebe A, van 't Slot R, Boor R, von Spiczak S, Muhle H, Jähn JA, van Binsbergen E, van Nieuwenhuizen O, Jansen FE, Braun KP, de Haan GJ, Tommerup N, Stephani U, Hjalgrim H, Poot M, Lindhout D, Brilstra EH, Møller RS, Koeleman BP.
Eur J Hum Genet. 2013 Nov 27. doi: 10.1038/ejhg.2013.262. [Epub ahead of print]
Sabers A, Wolf P, Møller A, Rysgaard K, Ben-Menachem E.
Epilepsy Res. 2013 Sep;106(1-2):292-5. doi: 10.1016/j.eplepsyres.2013.04.002. Epub 2013 Apr 26.
Wolf P.
Epilepsia. 2013 Jun;54(6):1132-3. doi: 10.1111/epi.12154. No abstract available.
Grønborg S, Uldall P.
Eur J Paediatr Neurol. 2013 Sep 25. doi:pii: S1090-3798(13)00134-7. 10.1016/j.ejpn.2013.08.004. [Epub ahead of print]
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Am J Hum Genet. 2013 Nov 7;93(5):967-75. doi: 10.1016/j.ajhg.2013.09.017. Epub 2013 Oct 24.
Baumgart A, Spiczak SV, Verhoeven-Duif NM, Møller RS, Boor R, Muhle H, Jähn JA, Klitten LL, Hjalgrim H, Lindhout D, Stephani U, Kempen MJ, Helbig I.
J Child Neurol. 2013 Oct 10. [Epub ahead of print
Weckhuysen S, Ivanovic V, Hendrickx R, Van Coster R, Hjalgrim H, Møller RS, Grønborg S, Schoonjans AS, Ceulemans B, Heavin SB, Eltze C, Horvath R, Casara G, Pisano T, Giordano L, Rostasy K, Haberlandt E, Albrecht B, Bevot A, Benkel I, Syrbe S, Sheidley B, Guerrini R, Poduri A, Lemke JR, Mandelstam S, Scheffer I, Angriman M, Striano P, Marini C, Suls A, De Jonghe P; KCNQ2 Study Group.
Neurology. 2013 Nov 5;81(19):1697-703. doi: 10.1212/01.wnl.0000435296.72400.a1. Epub 2013 Oct 9.
Giulioni M, Licchetta L, Bisulli F, Rubboli G, Mostacci B, Marucci G, Martinoni M, Ferri L, Volpi L, Calbucci F, Baruzzi A, Tinuper P.
Seizure. 2013 Oct 17. doi:pii: S1059-1311(13)00282-3. 10.1016/j.seizure.2013.10.005. [Epub ahead of print] No abstract available.
PMID:
24210057
[PubMed - as supplied by publisher]
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Lal D, Reinthaler EM, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Lerche H, Hahn A, Møller RS, Muhle H, Sander T, Zimprich F, Neubauer BA.
PLoS One. 2013 Sep 6;8(9):e73323
How long shall we record electroencephalography?
Craciun L, Gardella E, Alving J, Terney D, Mindruta I, Zarubova J,
Beniczky S.Acta Neurol Scand
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Ugeskr Laeger. 2013 Apr 22;175(17):1197-8. Danish.
Beniczky S, Lantz G, Rosenzweig I, Akeson P, Pedersen B, Pinborg LH, Ziebell M, Jespersen B, Fuglsang-Frederiksen A.
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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, López RG, 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.
Nat Genet. 2013 Aug 11. doi: 10.1038/ng.2728. [Epub ahead of print]
Targeting resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Møller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC. Nat Genet. 2013 Jul;45(7):825-30
‘North Sea’ progressive myoclonus epilepsy: Clinical characteristics of subjects with GOSR2 mutation. LB Lomax, MA Bayly, H Hjalgrim, RS Møller, AM Vlaar, KM Aaberg, L Gandolfo, JD O'Sullivan, GC Korenke, BR Bloem, IF de Coo, JMA Verhagen, I Said, T Prescott, A Stray-Pedersen, M Rasmussen, DF Vears, AE Lehesjoki, MA Corbett, M Bahlo, J Gecz, LM Dibbens, SF Berkovic. Brain.
2013 Apr;136(Pt 4):1146-54
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers. S Weckhuysen, P Holmgren, R Hendrickx, A Jansen, D Hasaerts, C Dielman, N Boutry-Kryza, G Lesca, S v. Spiczak, I Helbig, D Gill, S Yendle, RS Møller, L Klitten, C Korff, P De Jonghe, H Hjalgrim, IE Scheffer, A Suls. Epilepsia.
2013 May;54(5):e74-80
Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy. Lal D, Trucks H, Møller RS, Hjalgrim H, Koeleman BP, de Kovel CG, Visscher F, Weber YG, Lerche H, Becker F, Schankin CJ, Neubauer BA, Surges R, Kunz WS, Zimprich F, Franke A, Illig T, Ried JS, Leu C, Nürnberg P, Sander T; EMINet Consortium; EPICURE Consortium. Epilepsia.
2013 Feb;54(2):265-71.
Source analysis of epileptic discharges using multiple signal classification analysis. Beniczky S, Oturai PS, Alving J, Sabers A, Herning M, Fabricius M. Neuroreport.
2006 Aug 21;17(12):1283-7.
The role of SLC2A1 in early onset and childhood absence epilepsies. Muhle H, Helbig I, Frøslev TG, Suls A, von Spiczak S, Klitten LL, Dahl HA, Brusgaard K, Neubauer B, De Jonghe P, Tommerup N, Stephani U, Hjalgrim H, Møller RS. Epilepsy Res.
2013 [Epub ahead of print]
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. Møller RS, Weber YG, Klitten LL, Trucks H, Muhle H, Kunz WS, Mefford HC, Franke A, Kautza M, Wolf P, Dennig D, Schreiber S, Rückert IM, Wichmann HE, Ernst JP, Schurmann C, Grabe HJ, Tommerup N, Stephani U, Lerche H, Hjalgrim H, Helbig I, Sander T; EPICURE Consortium.
2013 Feb;54(2):256-64.
Mutations in SYNGAP1 Cause Intellectual Disability, Autism and a Specific form of Epilepsy by Inducing Haploinsufficiency. Berryer MH, Hamdan FF, Klitten LL, Møller RS, Carmant L, Schwartzentruber J, Patry L, Dobrzeniecka S, Rochefort D, Neugnot M, Lacaille JC, Niu Z, Eng CM, Yang Y, Palardy S, Belhumeur C, Rouleau GA, Tommerup N, Immken L, Beauchamp MH, Patel GS, Majewski J, Tarnopolsky MA, Scheffzek K, Hjalgrim H, Michaud JL, Di Cristo G. Hum Mutat.
2013 Feb;34(2):385-94
In search of the Rosetta Stone for ESES. Cantalupo G, Rubboli G, Tassinari CA. Epilepsia.
2013 Apr;54(4):766-7
Standardized computer-based organized reporting of EEG: SCORE. Epilepsia. Beniczky S, Aurlien H, Brøgger JC, Fuglsang-Frederiksen A, Martins-da-Silva A, Trinka E, Visser G, Rubboli G, Hjalgrim H, Stefan H, Rosén I, Zarubova J, Dobesberger J, Alving J, Andersen KV, Fabricius M, Atkins MD, Neufeld M, Plouin P, Marusic P, Pressler R, Mameniskiene R, Hopfengärtner R, van Emde Boas W, Wolf P.
2013 Mar 18. doi: 10.1111/epi.12135. [Epub ahead of print]
The eye of the beholder: inter-rater agreement among experts on psychogenic jerky movement disorders. van der Salm SM, de Haan RJ, Cath DC, van Rootselaar AF, Tijssen MA, Bhatia K, Brown P, Carson A, Cavanna A, Caviness J, Davenport R, Edwards M, Espay A, Ferlazzo E, Franceschetti S, Fung V, Gilbert D, Goetz C, Guerrini R, Hallett M, Hounie A, Jankovic J, Klein C, Lang A, Limousin P, Martino D, Muller-Vahl K, Münchau A, Nahab F, Orth M, Reuber M, Roze E, Rubboli G, Sandor P, Schrader C, Schrag A, Shibasaki H, Stone J, Striano P, Striano S, Tolosa E, Ugawa Y, Vidailhet M, Weiner W J Neurol Neurosurg Psychiatry.
2013 Feb 14. [Epub ahead of print]
Seizure outcome of surgical treatment of focal epilepsy associated with low-grade tumors in children. Babini M, Giulioni M, Galassi E, Marucci G, Martinoni M, Rubboli G, Volpi L, Zucchelli M, Nicolini F, Marliani AF, Michelucci R, Calbucci F. J Neurosurg Pediatr.
2013 Feb;11(2):214-23.
Consensus on diagnosis and management of JME: from Founder’s observations to current trends. Dorothee Kasteleijn- Nolst Trenité, Bettina Schmitz, Dieter Janz, Antonio V Delgado-Escueta, Pierre Thomas, Edouard Hirsch, Holger Lerche, Carol Camfield, Betul Baykan, Martha Feucht, Iris E. Martínez-Juárez, Reyna M Duron, Marco T Medina, Guido Rubboli, Judith Jerney, Bruce Hermann, Elza Yacubian, Michael Koutrimanides, Ulrich Stephani, Javier Salas-Puig, Ronald C Reed, Friedrich Woermann, Britta Wandschneider, Michelle Bureau, Antonio Gambardella, Matthias Koepp, Philippe Gelisse, Cardan Gurses, Ariel Crespel, Vi Huong Nguyen-Michel, Edoardo Ferlazzo, Thierry Grisar, Ingo Helbig, Bobby Koeleman, Pasquale Striano, Michael Trimble, Russel Buono, Patrick Cossette, Alfonso Represa, Charlotte Dravet, Anna Serafini, Ivanka Savic- Berglund, Sanjay Sissodiya, Kazuhiro Yamakawa, Pierre Genton. Epilepsy and Behaviour
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Neurophysiology of Juvenile Myoclonic Epilepsy. A.Serafini, G.Rubboli, G.L. Gigli, M. Koutromanidis, P.Gelisse. Epilepsy and Behaviour
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Seizure outcome in surgically treated drug-resistant mesial temporal lobe epilepsy based on the recent histopathological classifications. M. Giulioni , G Marucci , M. Martinoni, L.Volpi , P. Riguzzi, F. Marliani, F. Bisulli, P. Tinuper, CA Tassinari, R. Michelucci, G.Rubboli. J. Neurosurgery,
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Focal epilepsies associated with glioneuronal tumoors. M. Giulioni, G. Rubboli, G. Marucci, M. Martinoni, A.F. Marliani, F. Bartiromo, F. Calbucci. Review article. Panminerva Medica
2013 in press
Epileptic prodromes: are they non-convulsive status epilepticus? Alving J and Beniczky S. Seizure
Unified EEG terminology and criteria for nonconvulsive status epilepticus. Beniczky S, Hirsch LJ, Kaplan PW, Pressler R, Bauer G, Aurlien H, Brøgger JC, Trinka E. Epilepsia
Chronodependency and Provocative factors in Juvenile Myoclonic Epilepsy. Kasteleijn- Nolst Trenité D, de Weerd A , Beniczky S. Epilepsy and Behavior
Can somatosensory evoked potentials predict disease course in early multiple sclerosis patients? Nagy H, Rajda C, Orosz P, Bencsik K, Benedek K, Kéri S, Vécsei L, Beniczky S. Clin Neurosci
Cerebrotendinous xanthomatosis is a rare disorder, which requires a specific treatment.
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