1. Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany. (May 2019) Authors: Strzelczyk, Adam; Kalski, Malin; Bast, Thomas; Wiemer-Kruel, Adelheid; Bettendorf, Ulrich; Kay, Lara; Kieslich, Matthias; Kluger, Gerhard; Kurlemann, Gerhard; Mayer, Thomas; Neubauer, Bernd A.; Polster, Tilman; Herting, Arne; von Spiczak, Sarah; Trollmann, Regina; Wolff, Markus; Irwin, John; Carr... Journal: European journal of paediatric neurology Issue: Volume 23:Number 3(2019:May) Page Start: 392 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. DNM1 encephalopathy: A new disease of vesicle fission. (25th July 2017) Authors: von Spiczak, Sarah; Helbig, Katherine L.; Shinde, Deepali N.; Huether, Robert; Pendziwiat, Manuela; Lourenço, Charles; Nunes, Mark E.; Sarco, Dean P.; Kaplan, Richard A.; Dlugos, Dennis J.; Kirsch, Heidi; Slavotinek, Anne; Cilio, Maria R.; Cervenka, Mackenzie C.; Cohen, Julie S.; McClellan, Rebec... Journal: Neurology Issue: Volume 89:Number 4(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. In response: Neuronal networks in epileptic encephalopathies with CSWS. (July 2017) Authors: Japaridze, Natia; Muthuraman, Muthuraman; Dierck, Carina; von Spiczak, Sarah; Stephani, Ulrich; Siniatchkin, Michael Journal: Epilepsia Issue: Volume 58:issue 7(2017) Page Start: 1297 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Investigating the genetic basis of fever‐associated syndromic epilepsies using copy number variation analysis. (17th February 2015) Authors: Hartmann, Corinna; von Spiczak, Sarah; Suls, Arvid; Weckhuysen, Sarah; Buyse, Gunnar; Vilain, Catheline; Van Bogaert, Patrick; De Jonghe, Peter; Cook, Joseph; Muhle, Hiltrud; Stephani, Ulrich; Helbig, Ingo; Mefford, Heather C. Journal: Epilepsia Issue: Volume 56:issue 3(2015:Mar.) Page Start: e26 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. (31st January 2017) Authors: Møller, Rikke S.; Wuttke, Thomas V.; Helbig, Ingo; Marini, Carla; Johannesen, Katrine M.; Brilstra, Eva H.; Vaher, Ulvi; Borggraefe, Ingo; Talvik, Inga; Talvik, Tiina; Kluger, Gerhard; Francois, Laurence L.; Lesca, Gaetan; de Bellescize, Julitta; Blichfeldt, Susanne; Chatron, Nicolas; Holert, Nil... Journal: Neurology Issue: Volume 88:Number 5(2017) Page Start: 483 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. (31st January 2017) Authors: Møller, Rikke S.; Wuttke, Thomas V.; Helbig, Ingo; Marini, Carla; Johannesen, Katrine M.; Brilstra, Eva H.; Vaher, Ulvi; Borggraefe, Ingo; Talvik, Inga; Talvik, Tiina; Kluger, Gerhard; Francois, Laurence L.; Lesca, Gaetan; de Bellescize, Julitta; Blichfeldt, Susanne; Chatron, Nicolas; Holert, Nil... Journal: Neurology Issue: Volume 88:Number 5(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Neuronal networks in epileptic encephalopathies with CSWS. (15th June 2016) Authors: Japaridze, Natia; Muthuraman, Muthuraman; Dierck, Carina; von Spiczak, Sarah; Boor, Rainer; Mideksa, Kidist G.; Anwar, Rauf A.; Deuschl, Günther; Stephani, Ulrich; Siniatchkin, Michael Journal: Epilepsia Issue: Volume 57:issue 8(2016) Page Start: 1245 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Pitfalls in genetic testing: the story of missed SCN1A mutations. Issue 4 (14th April 2016) Authors: Djémié, Tania; Weckhuysen, Sarah; von Spiczak, Sarah; Carvill, Gemma L.; Jaehn, Johanna; Anttonen, Anna‐Kaisa; Brilstra, Eva; Caglayan, Hande S.; de Kovel, Carolien G.; Depienne, Christel; Gaily, Eija; Gennaro, Elena; Giraldez, Beatriz G.; Gormley, Padhraig; Guerrero‐López, Rosa; Guerrini, Renzo;... Journal: Molecular genetics & genomic medicine Issue: Volume 4:Issue 4(2016) Page Start: 457 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum. Issue 1 (8th December 2019) Authors: Mendes, Marisa I.; Green, Lydia M. C.; Bertini, Enrico; Tonduti, Davide; Aiello, Chiara; Smith, Desiree; Salsano, Ettore; Beerepoot, Shanice; Hertecant, Jozef; von Spiczak, Sarah; Livingston, John H.; Emrick, Lisa; Fraser, Jamie; Russell, Laura; Bernard, Genevieve; Magri, Stefania; Di Bella, Dani... Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 1(2020) Page Start: 83 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. (5th November 2015) Authors: Larsen, Jan; Johannesen, Katrine Marie; Ek, Jakob; Tang, Shan; Marini, Carla; Blichfeldt, Susanne; Kibæk, Maria; von Spiczak, Sarah; Weckhuysen, Sarah; Frangu, Mimoza; Neubauer, Bernd Axel; Uldall, Peter; Striano, Pasquale; Zara, Federico; Kleiss, Rebecca; Simpson, Michael; Muhle, Hiltrud; Nikano... Other Names: Craiu DC investigator.; Caglayan HS investigator.; Talvik T investigator.; Weber YG investigator.; Barisic N investigator. Journal: Epilepsia Issue: Volume 56:issue 12(2015:Dec.) Page Start: e203 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗