1. A genome‐wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine. Issue 1 (17th January 2019) Authors: Berghuis, Bianca; Stapleton, Caragh; Sonsma, Anja C. M.; Hulst, Janic; de Haan, Gerrit‐Jan; Lindhout, Dick; Demurtas, Rita; Krause, Roland; Depondt, Chantal; Kunz, Wolfram S.; Zara, Federico; Striano, Pasquale; Craig, John; Auce, Pauls; Marson, Anthony G.; Stefansson, Hreinn; O'Brien, Terence J.;... Other Names: Avbersek Andreja investigator.; Leu Costin investigator.; Heggeli Kristin investigator.; Willis Joseph investigator.; Speed Douglas investigator.; Sargsyan Narek investigator.; Chinthapalli Krishna investigator.; Borghei Mojgansadat investigator.; Coppola Antonietta investigator.; Gambardella Ant... Journal: Epilepsia open Issue: Volume 4:Issue 1(2019) Page Start: 102 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam. Issue 6 (1st April 2022) Authors: Campbell, Ciarán; McCormack, Mark; Patel, Sonn; Stapleton, Caragh; Bobbili, Dheeraj; Krause, Roland; Depondt, Chantal; Sills, Graeme J.; Koeleman, Bobby P.; Striano, Pasquale; Zara, Federico; Sander, Josemir W.; Lerche, Holger; Kunz, Wolfram S.; Stefansson, Kari; Stefansson, Hreinn; Doherty,... Journal: Epilepsia Issue: Volume 63:Issue 6(2022) Page Start: 1563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. Issue 4 (9th September 2016) Authors: Helbig, Katherine L.; Hedrich, Ulrike B.S.; Shinde, Deepali N.; Krey, Ilona; Teichmann, Anne‐Christin; Hentschel, Julia; Schubert, Julian; Chamberlin, Adam C.; Huether, Robert; Lu, Hsiao‐Mei; Alcaraz, Wendy A.; Tang, Sha; Jungbluth, Chelsy; Dugan, Sarah L.; Vainionpää, Leena; Karle, Kathrin N.; S... Journal: Annals of neurology Issue: Volume 80:Issue 4(2016:Oct.) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Alterations in the α2δ ligand, thrombospondin‐1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies. (15th September 2017) Authors: Santolini, Ines; Celli, Roberta; Cannella, Milena; Imbriglio, Tiziana; Guiducci, Michela; Parisi, Pasquale; Schubert, Julian; Iacomino, Michele; Zara, Federico; Lerche, Holger; Moyanova, Slavianka; Ngomba, Richard Teke; van Luijtelaar, Gilles; Battaglia, Giuseppe; Bruno, Valeria; Striano, Pasqual... Other Names: Palotie Aarno investigator.; Folkhälsan Anna‐Elina Lehesjoki investigator.; Ruppert Ann‐Kathrin investigator.; Siren Auli investigator.; Koeleman Bobby investigator.; Lal Dennis investigator.; Becker Felicitas investigator.; Caglayan Hande investigator.; Hjalgrim Helle investigator.; Muhle Hiltru... Journal: Epilepsia Issue: Volume 58:issue 11(2017) Page Start: 1993 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families. (10th June 2021) Authors: Koko, Mahmoud; Yahia, Ashraf; Elsayed, Liena E.; Hamed, Ahlam A.; Mohammed, Inaam N.; Elseed, Maha A.; Hamad, Muddathir H. A.; Babai, Arwa M.; Siddig, Rayan A.; Abd Allah, Amal S. I.; Mohamed, Mayada; EL‐Amin, Melka; Esteves, Typhaine; Altmüller, Janine; Toliat, Mohammad Reza; Thiele, Holger; Nür... Journal: Annals of human genetics Issue: Volume 85:Number 5(2021) Page Start: 186 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na+ current. Issue 9 (12th June 2013) Authors: Lauxmann, Stephan; Boutry‐Kryza, Nadia; Rivier, Clotilde; Mueller, Stephan; Hedrich, Ulrike B. S.; Maljevic, Snezana; Szepetowski, Pierre; Lerche, Holger; Lesca, Gaetan Journal: Epilepsia Issue: Volume 54:Issue 9(2013:Sep.) Page Start: e117 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy. Issue 8 (3rd July 2014) Authors: Reinthaler, Eva M.; Lal, Dennis; Jurkowski, Wiktor; Feucht, Martha; Steinböck, Hannelore; Gruber‐Sedlmayr, Ursula; Ronen, Gabriel M.; Geldner, Julia; Haberlandt, Edda; Neophytou, Birgit; Hahn, Andreas; Altmüller, Janine; Thiele, Holger; Toliat, Mohammad R.; EuroEPINOMICS Consortium; Lerche, Holge... Journal: Epilepsia Issue: Volume 55:Issue 8(2014:Aug.) Page Start: e89 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Assessing the role of rare genetic variants in drug‐resistant, non‐lesional focal epilepsy. Issue 7 (21st May 2021) Authors: Wolking, Stefan; Moreau, Claudia; McCormack, Mark; Krause, Roland; Krenn, Martin; Berkovic, Samuel; Cavalleri, Gianpiero L.; Delanty, Norman; Depondt, Chantal; Johnson, Michael R.; Koeleman, Bobby P. C.; Kunz, Wolfram S.; Lerche, Holger; Marson, Anthony G.; O'Brien, Terence J.; Petrovski, Slave; ... Journal: Annals of clinical and translational neurology Issue: Volume 8:Issue 7(2021) Page Start: 1376 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Benchmarking of univariate pleiotropy detection methods applied to epilepsy. Issue 9 (8th July 2022) Authors: Adesoji, Oluyomi M.; Schulz, Herbert; May, Patrick; Krause, Roland; Lerche, Holger; Nothnagel, Michael Journal: Human mutation Issue: Volume 43:Issue 9(2022) Page Start: 1314 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Issue 3 (13th February 2016) Authors: Gardella, Elena; Becker, Felicitas; Møller, Rikke S.; Schubert, Julian; Lemke, Johannes R.; Larsen, Line H. G.; Eiberg, Hans; Nothnagel, Michael; Thiele, Holger; Altmüller, Janine; Syrbe, Steffen; Merkenschlager, Andreas; Bast, Thomas; Steinhoff, Bernhard; Nürnberg, Peter; Mang, Yuan; Bakke Mølle... Journal: Annals of neurology Issue: Volume 79:Issue 3(2016:Mar.) Page Start: 428 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗