PUBLIKATIONEN - 2013

Helbig I, Hartmann C, Mefford HC. Clarifying the role of the 22q11.2 microdeletion in juvenile myoclonic epilepsy. Epilepsy Behav. 2013 Dec;29(3):589-90.

Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I; EuroEPINOMICS RES Consortium. De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. Am J Hum Genet. 2013 Nov 7;93(5):967-75.

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. Structural genomic variation in childhood epilepsies with complex phenotypes. Eur J Hum Genet. 2013 Nov 27.
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. Atypical Vitamin B6 Deficiency: A Rare Cause of Unexplained Neonatal and Infantile Epilepsies. J Child Neurol. 2013 Oct 10.

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. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet. 2013 Aug 11.

Kasteleijn-Nolst Trenité DG, Schmitz B, Janz D, Delgado-Escueta AV, Thomas P, Hirsch E, Lerche H, Camfield C, Baykan B, Feucht M, Martínez-Juárez IE, Duron RM, Medina MT, Rubboli G, Jerney J, Hermann B, Yacubian E, Koutroumanidis M, Stephani U, Salas-Puig J, Reed RC, Woermann F, Wandschneider B, Bureau M, Gambardella A, Koepp MJ, Gelisse P, Gurses C, Crespel A, Nguyen-Michel VH, Ferlazzo E, Grisar T, Helbig I, Koeleman BP, Striano P, Trimble M, Buono R, Cossette P, Represa A, Dravet C, Serafini A, Berglund IS, Sisodiya SM, Yamakawa K, Genton P. Consensus on diagnosis and management of JME: From founder's observations to current trends. Epilepsy Behav. 2013 Jul;28 Suppl 1:S87-90.

Helbig I, Hartmann C, Mefford HC. The unexpected role of copy number variations in juvenile myoclonic epilepsy. Epilepsy Behav. 2013 Jul;28 Suppl 1:S66-8.

Eckhaus J, Lawrence KM, Helbig I, Bui M, Vadlamudi L, Hopper JL, Scheffer IE, Berkovic SF. Genetics of febrile seizure subtypes and syndromes: a twin study. Epilepsy Res. 2013 Jul;105(1-2):103-9.

Helbig I, Lowenstein DH. Genetics of the epilepsies: where are we and where are we going? Curr Opin Neurol. 2013 Apr;26(2):179-85.

Weckhuysen S, Holmgren P, Hendrickx R, Jansen AC, Hasaerts D, Dielman C, de Bellescize J, Boutry-Kryza N, Lesca G, Von Spiczak S, Helbig I, Gill D, Yendle S, Møller RS, Klitten L, Korff C, Godfraind C, Van Rijckevorsel K, De Jonghe P, Hjalgrim H, Scheffer IE, Suls A. Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers. Epilepsia. 2013 May;54(5):e74-80.

Moehring J, von Spiczak S, Moeller F, Helbig I, Wolff S, Jansen O, Muhle H, Boor R, Stephani U, Siniatchkin M. Variability of EEG-fMRI findings in patients with SCN1A-positive Dravet syndrome. Epilepsia. 2013 May;54(5):918-26.

Kirov A, Dimova P, Todorova A, Mefford H, Todorov T, Saraylieva G, Bojinova V, Mitev V, Helbig I. 15q13.3 microdeletions in a prospectively recruited cohort of patients with idiopathic generalized epilepsy in Bulgaria. Epilepsy Res. 2013 May;104(3):241-5.

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. Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy. Epilepsia. 2013 Feb;54(2):265-71.

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. The role of SLC2A1 in early onset and childhood absence epilepsies. Epilepsy Res. 2013 Jan 7.

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. Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. Epilepsia. 2013 Jan 7.