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Association of ultra-rare coding variants with genetic generalized epilepsy: a case-control whole exome sequencing study.
Koko, M. and Motelow, J.E. and Stanley, K.E. and Bobbili, D.R. and Dhindsa, R.S. and May, P.
Epilepsia 63 (3): 723-735. March 2022


Alterations in the α(2)δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies.
Santolini, I. and Celli, R. and Cannella, M. and Imbriglio, T. and Guiducci, M. and Parisi, P. and Schubert, J. and Iacomino, M. and Zara, F. and Lerche, H. and Moyanova, S. and Ngomba, R.T. and van Luijtelaar, G. and Battaglia, G. and Bruno, V. and Striano, P. and Nicoletti, F.
Epilepsia 58 (11): 1993-2001. November 2017


Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
Veeramah, K.R. and Johnstone, L. and Karafet, T.M. and Wolf, D. and Sprissler, R. and Salogiannis, J. and Barth-Maron, A. and Greenberg, M.E. and Stuhlmann, T. and Weinert, S. and Jentsch, T.J. and Pazzi, M. and Restifo, L.L. and Talwar, D. and Erickson, R.P. and Hammer, M.F.
Epilepsia 54 (7): 1270-1281. July 2013


Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.
Leu, C. and de Kovel, C.G.F. and Zara, F. and Striano, P. and Pezzella, M. and Robbiano, A. and Bianchi, A. and Bisulli, F. and Coppola, A. and Giallonardo, A.T. and Beccaria, F. and Trenite, D.K. and Lindhout, D. and Gaus, V. and Schmitz, B. and Janz, D. and Weber, Y.G. and Becker, F. and Lerche, H. and Kleefuss-Lie, A.A. and Hallman, K. and Kunz, W.S. and Elger, C.E. and Muhle, H. and Stephani, U. and Moller, R.S. and Hjalgrim, H. and Mullen, S. and Scheffer, I.E. and Berkovic, S.F. and Everett, K.V. and Gardiner, M.R. and Marini, C. and Guerrini, R. and Lehesjoki, A.E. and Siren, A. and Nabbout, R. and Baulac, S. and Leguern, E. and Serratosa, J.M. and Rosenow, F. and Feucht, M. and Unterberger, I. and Covanis, A. and Suls, A. and Weckhuysen, S. and Kaneva, R. and Caglayan, H. and Turkdogan, D. and Baykan, B. and Bebek, N. and Ozbek, U. and Hempelmann, A. and Schulz, H. and Rueschendorf, F. and Trucks, H. and Nuernberg, P. and Avanzini, G. and Koeleman, B.P.C. and Sander, T.
Epilepsia 53 (2): 308-318. February 2012


Respiratory alkalosis in children with febrile seizures.
Schuchmann, S. and Hauck, S. and Henning, S. and Grueters-Kieslich, A. and Vanhatalo, S. and Schmitz, D. and Kaila, K.
Epilepsia 52 (11): 1949-1955. November 2011


A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsy.
Cavalleri, G.L. and Walley, N.M. and Soranzo, N. and Mulley, J. and Doherty, C.P. and Kapoor, A. and Depondt, C. and Lynch, J.M. and Scheffer, I.E. and Heils, A. and Gehrmann, A. and Kinirons, P. and Gandhi, S. and Satishchandra, P. and Wood, N.W. and Anand, A. and Sander, T. and Berkovic, S.F. and Delanty, N. and Goldstein, D.B. and Sisodiya, S.M.
Epilepsia 48 (4): 706-712. April 2007


Exploration of the genetic architecture of idiopathic generalized epilepsies.
Hempelmann, A. and Taylor, K.P. and Heils, A. and Lorenz, S. and Prud'homme, J.F. and Nabbout, R. and Dulac, O. and Rudolf, G. and Zara, F. and Bianchi, A. and Robinson, R. and Gardiner, R.M. and Covanis, A. and Lindhout, D. and Stephani, U. and Elger, C.E. and Weber, Y.G. and Lerche, H. and Nuernberg, P. and Kron, K.L. and Scheffer, I.E. and Mulley, J.C. and Berkovic, S.F. and Sander, T.
Epilepsia 47 (10): 1682-1690. October 2006


Association analysis of malic enzyme 2 gene polymorphisms with idiopathic generalized epilepsy.
Lenzen, K.P. and Heils, A. and Lorenz, S. and Hempelmann, A. and Sander, T.
Epilepsia 46 (10): 1637-1641. 1 October 2005


Exploration of a putative susceptibility locus for idiopathic generalized epilepsy on chromosome 8p12.
Sander, T. and Windemuth, C. and Schulz, H. and Saar, K. and Gennaro, E. and Riggio, C. and Bianchi, A. and Zara, F. and Rudolf, G. and Picard, F. and Bulteau, C. and Kaminska, A. and Cieuta, C. and Prud'homme, J.F. and Dulac, O. and Bate, L. and Robinson, R. and Gardiner, R.M. and Covanis, A. and de Haan, G.J. and Janssen, G.A.M.A. and van Erp, M.G. and Boezeman, E.H.J.F. and Lindhout, D. and Heils, A. and Nuernberg, P. and Janz, D.
Epilepsia 44 (1): 32-39. January 2003


Pathophysiology of KCNQ channels: neonatal epilepsy and progressive deafness.
Jentsch, T.J. and Schroeder, B.C. and Kubisch, C. and Friedrich, T. and Stein, V.
Epilepsia 41 (8): 1068-1069. August 2000


Comparison of effects of valproate and trans-2-en-valproate on different forms of epileptiform activity in rat hippocampal and temporal cortex slices.
Sokolova, S. and Schmitz, D. and Zhang, C.L. and Loescher, W. and Heinemann, U.
Epilepsia 39 (3): 251-258. March 1998

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