1. 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) ↗
2. Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus. (4th May 2021) Authors: Heron, Sarah E.; Regan, Brigid M.; Harris, Rebekah V.; Gardner, Alison E.; Coleman, Matthew J.; Bennett, Mark F.; Grinton, Bronwyn E.; Helbig, Katherine L.; Sperling, Michael R.; Haut, Sheryl; Geller, Eric B.; Widdess-Walsh, Peter; Pelekanos, James T.; Bahlo, Melanie; Petrovski, Slavé; Heinzen, E... Journal: Neurology Issue: Volume 96:Number 18(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Caregiver assessment of quality of life in individuals with genetic developmental and epileptic encephalopathies. (28th February 2022) Authors: Cohen, Stacey R.; Helbig, Ingo; Kaufman, Michael C.; Schust Myers, Leah; Conway, Laura; Helbig, Katherine L. Journal: Developmental medicine & child neurology Issue: Volume 64:Number 8(2022) Page Start: 957 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical spectrum of STX1B-related epileptic disorders. (12th March 2019) Authors: Wolking, Stefan; May, Patrick; Mei, Davide; Møller, Rikke S.; Balestrini, Simona; Helbig, Katherine L.; Altuzarra, Cecilia Desmettre; Chatron, Nicolas; Kaiwar, Charu; Stöhr, Katharina; Widdess-Walsh, Peter; Mendelsohn, Bryce A.; Numis, Adam; Cilio, Maria R.; Van Paesschen, Wim; Svendsen, Lene L.;... Journal: Neurology Issue: Volume 92:Number 11(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy. Issue 7 (6th April 2020) Authors: Carvill, Gemma L.; Helbig, Katherine L.; Myers, Candace T.; Scala, Marcello; Huether, Robert; Lewis, Sara; Kruer, Tyler N.; Guida, Brandon S.; Bakhtiari, Somayeh; Sebe, Joy; Tang, Sha; Stickney, Heather; Oktay, Sehribani Ulusoy; Bhandiwad, Ashwin A.; Ramsey, Keri; Narayanan, Vinodh; Feyma, Timoth... Journal: Human mutation Issue: Volume 41:Issue 7(2020) Page Start: 1263 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. (7th June 2016) Authors: Lemke, Johannes R.; Geider, Kirsten; Helbig, Katherine L.; Heyne, Henrike O.; Schütz, Hannah; Hentschel, Julia; Courage, Carolina; Depienne, Christel; Nava, Caroline; Heron, Delphine; Møller, Rikke S.; Hjalgrim, Helle; Lal, Dennis; Neubauer, Bernd A.; Nürnberg, Peter; Thiele, Holger; Kurlemann, G... Journal: Neurology Issue: Volume 86:Number 23(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies. Issue 7 (8th May 2018) Authors: Sajan, Samin A.; Powis, Zöe; Helbig, Katherine L.; Nagakura, Honey; Immken, Ladonna; Tang, Sha; Alcaraz, Wendy A. Journal: Clinical case reports Issue: Volume 6:Issue 7(2018) Page Start: 1208 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. (6th December 2020) Authors: Schneider, Amy L.; Myers, Candace T.; Muir, Alison M.; Calvert, Sophie; Basinger, Alice; Perry, M. Scott; Rodan, Lance; Helbig, Katherine L.; Chambers, Chelsea; Gorman, Kathleen M.; King, Mary D.; Donkervoort, Sandra; Soldatos, Ariane; Bönnemann, Carsten G.; Spataro, Nino; Gabau, Elisabeth; Arell... Journal: Epilepsia Issue: Volume 62:issue 1(2021) Page Start: e13 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Genetic epilepsy with febrile seizures plus: Refining the spectrum. (19th September 2017) Authors: Zhang, Yue-Hua; Burgess, Rosemary; Malone, Jodie P.; Glubb, Georgie C.; Helbig, Katherine L.; Vadlamudi, Lata; Kivity, Sara; Afawi, Zaid; Bleasel, Andrew; Grattan-Smith, Padraic; Grinton, Bronwyn E.; Bellows, Susannah T.; Vears, Danya F.; Damiano, John A.; Goldberg-Stern, Hadassa; Korczyn, Amos D... Journal: Neurology Issue: Volume 89:Number 12(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗