Publikationer i 2014

21 Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay, and spastic paraplegia through loss of AP-4 complex assemblyHardies K, May P, Djémié T, Tarta-Arsene O, Deconinck T, Craiu D, Helbig I, Suls A, Balling R, Weckhuysen S, De Jonghe P, Hirst J; AR working group of the EuroEPINOMICS RES Consortium. Hum Mol Genet. 2014 Dec 30. pii: ddu740.

20 Aberrant expression of miR-218 and miR-204 in human mesial temporal lobe epilepsy and hippocampal sclerosis-Convergence on axonal guidance

Kaalund SS, Venø MT, Bak M, Møller RS, Laursen H, Madsen F, Broholm H, Quistorff B, Uldall P, Tommerup N, Kauppinen S, Sabers A, Fluiter K, Møller LB, Nossent AY, Silahtaroglu A, Kjems J, Aronica E, Tümer Z.

Epilepsia. 2014 Nov 19. doi: 10.1111/epi.12839.

19 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.

Nat Genet. 2014 Nov 17. doi: 10.1038/ng.3144.

18 Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman BP; EuroEPINOMICS RES Consortium, Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H.

Nat Genet. 2014 Nov 2. doi: 10.1038/ng.3130. 

17 Duplications confer risk for typical and atypical Rolandic epilepsy

Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; 16p11.2 European Consortium, Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS; EPICURE Consortium, The EuroEPINOMICS Consortium, Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA; 16p11 2 European Consortium.

Hum Mol Genet. 2014 Nov 15;23(22):6069-80. doi: 10.1093/hmg/ddu306. Epub 2014 Jun 16.

16 History Ep Disorders 

Peter Wolf

• Download pdf History of epilepsy: nosological concepts and classification

15 Geschichte Schweiz 

14 De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

EuroEPINOMICS-RES Consortium. Electronic address: euroepinomics-RES@ua.ac.be; Epilepsy Phenome/Genome Project; Epi4K Consortium; EuroEPINOMICS-RES Consortium; Epilepsy Phenome/Genome Project; Epi4K Consortium.

Am J Hum Genet. 2014 Sep 24. pii: S0002-9297(14)00383-8. doi: 10.1016/j.ajhg.2014.08.013. [Epub ahead of print]

13 Current role of rufinamide in the treatment of childhood epilepsy: Literature review and treatment guidelines. 

Coppola G, Besag F, Cusmai R, Dulac O, Kluger G, Moavero R, Nabbout R, Nikanorova M, Pisani F, Verrotti A, von Stülpnagel C, Curatolo P.

Eur J Paediatr Neurol. 2014 May 28. pii: S1090-3798(14)00087-7. doi: 10.1016/j.ejpn.2014.05.008. [Epub ahead of print]

12 /Portals/26/Dokumenter/PUblikationer/ILAE Consortium on-line_pwl.pdf

11 Generalized ictogenesis

10 Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

International League Against Epilepsy Consortium on Complex Epilepsies. Electronic address: epilepsy-austin@unimelb.edu.au

Lancet Neurol. 2014 Sep;13(9):893-903. doi: 10.1016/S1474-4422(14)70171-1. Epub 2014 Jul 30.

9 Quantitative analysis of surface electromyography during epileptic and nonepileptic convulsive seizures

*Sandor Beniczky, Isa Conradsen, Mihai Moldovan, poul Jenum, Martin Fabricius, Krisztina Benedek, Noemi Andersen, Helle Hjalgrim og Peter Wolf

Epilepsia, **(*): 1-7, 2014, doi: 10.1111/epi.12669  

 *Jesper Jeppesen, *Anders Fuglsang-Frederiksen, †Ramon Brugada, ‡Birthe Pedersen, ‡Guido Rubboli, §Peter Johansen, and *¶Sandor Beniczky

Epilepsia, **(*):1–5, 2014

7 Reduced ceramide synthase 2 activity causes progressive myoclonic  

Mai-Britt Mosbech, Anne S. B. Olsen, Ditte Neess, Oshrit Ben-David, Laura L. Klitten, Jan Larsen, Anne Sabers, John Vissing, Jørgen E. Nielsen, Lis Hasholt, Andres D. Klein, Michael M. Tsoory, Helle Hjalgrim, Niels Tommerup, Anthony H. Futerman, Rikke S. Møller & Nils J. Færgeman. Annals of Clinical and Translational Neurology

6 De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Nava C1, Dalle C2, Rastetter A3, Striano P4, de Kovel CG5, Nabbout R6, Cancès C7, Ville D8, Brilstra EH5, Gobbi G9, Raffo E10, Bouteiller D11, Marie Y11, Trouillard O12, Robbiano A13, Keren B14, Agher D3, Roze E15, Lesage S15, Nicolas A15, Brice A16, Baulac M15, Vogt C17, El Hajj N17, Schneider E17, Suls A18, Weckhuysen S18, Gormley P19, Lehesjoki AE20, De Jonghe P18, Helbig I21, Baulac S15, Zara F13, Koeleman BP5; EuroEPINOMICS RES Consortium, Haaf T17, Leguern E16, Depienne C22.

Nat Genet. 2014 Apr 20. doi: 10.1038/ng.2952. [Epub ahead of print]

5 Praxis induction. Definition, relation to epilepsy syndromes, nosological and prognostic significance. A focused review. Yacubian EM, Wolf P. European Journal of Epilepsy1 Volume 23, Issue 4 Pages 247-251, 2014 

4 Rescue medications

3 Praxis induction review 

2 GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Møller RS, Hjalgrim H, Cook J, Geraghty E, O'Roak BJ, Petrou S, Clarke A, Gill D, Sadleir LG, Muhle H, von Spiczak S, Nikanorova M, Hodgson BL, Gazina EV, Suls A, Shendure J, Dibbens LM, De Jonghe P, Helbig I, Berkovic SF, Scheffer IE, Mefford HC.

Neurology. 2014 Mar 12. [Epub ahead of print] 

1 Beyond the double banana: improved recognition of temporal lobe seizures in long-term EEG

Rosenzweig I, Fogarasi A, Johnsen B, Alving J, Fabricius ME, Scherg M, Neufeld MY, Pressler R, Kjaer TW, van Emde Boas W, Beniczky S.

J Clin Neurophysiol. 2014 Feb;31(1):1-9. doi: 10.1097/WNP.0000000000000019.