1. Clinical and genetic spectrum of SCN2A-associated episodic ataxia. (May 2019) Authors: Schwarz, N.; Bast, T.; Gaily, E.; Golla, G.; Gorman, K.M.; Griffiths, L.R.; Hahn, A.; Hukin, J.; King, M.; Korff, C.; Miranda, M.J.; Møller, R.S.; Neubauer, B.; Smith, R.A.; Smol, T.; Striano, P.; Stroud, B.; Vaccarezza, M.; Kluger, G.; Lerche, H. Journal: European journal of paediatric neurology Issue: Volume 23:Number 3(2019:May) Page Start: 438 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinician's guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature. Issue 2 (25th January 2018) Authors: Schönewolf‐Greulich, B.; Bisgaard, A‐M.; Møller, R.S.; Dunø, M.; Brøndum‐Nielsen, K.; Kaur, S.; Van Bergen, N.J.; Lunke, S.; Eggers, S.; Jespersgaard, C.; Christodoulou, J.; Tümer, Z. Journal: Clinical genetics Issue: Volume 95:Issue 2(2019) Page Start: 221 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs. (May 2017) Authors: von Stülpnagel, C.; Ensslen, M.; Møller, R.S.; Pal, D.K.; Masnada, S.; Veggiotti, P.; Piazza, E.; Dreesmann, M.; Hartlieb, T.; Herberhold, T.; Hughes, E.; Koch, M.; Kutzer, C.; Hoertnagel, K.; Nitanda, J.; Pohl, M.; Rostásy, K.; Haack, T.B.; Stöhr, K.; Kluger, G. Journal: European journal of paediatric neurology Issue: Volume 21:Number 3(2017:May) Page Start: 530 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Severe cognitive impairment and early-onset epilepsy in six patients with the de novo p.Glu590Lys variant of CUX2. (June 2017) Authors: Chatron, N.; Møller, R.S.; Champaigne, N.L.; Kuechler, A.; Labalme, A.; Baggett, L.; Wieczorek, D.; Portes, V. des; Edery, P.; Gardella, E.; Scheffer, I.E.; Mefford, H.; Sanlaville, D.; Carvill, G.L.; Lesca, G. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e194 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. V28. KCNA2 mutations cause epileptic encephalopathy by gain- or loss-of channel function. Issue 8 (August 2015) Authors: Hedrich, U.B.S.; Syrbe, S.; Riesch, E.; Djémié, T.; Müller, S.; Møller, R.S.; Maher, B.; Hernandez-Hernandez, L.; Synofzik, M.; Caglayan, H.S.; Arslan, M.; Serratosa, J.; Gonzalez, M.; Züchner, S.; Palotie, A.; Suls, A.; De Jonghe, P.; Helbig, I.; Biskup, S.; Wolff, M. Journal: Clinical neurophysiology Issue: Volume 126:Issue 8(2015:Aug.) Page Start: e80 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗