1. 4478 Not just GLUT1: genome sequencing reveals genetic heterogeneity in Doose syndrome. Issue Volume 4:Issue(2020)Supplement 1 (June 2020) Authors: Calhoun, Jeffrey Dennis; Gunti, Jonathan; Angione, Katie; Geiger, Elizabeth; Eschbach, Krista; Smith, Garnett; Joshi, Charuta; Shaikh, Tamim; Demarest, Scott; Carvill, Gemma Journal: Journal of clinical and translational science Issue: Volume 4:Issue(2020)Supplement 1 Page Start: 13 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. An Objective Method for Evaluating Next-Generation Sequencing Panels. (March 2019) Authors: Angione, Kaitlin; Gibbons, Melissa; Demarest, Scott Journal: Journal of child neurology Issue: Volume 34:Number 3(2019:Mar.) Page Start: 139 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CDKL5 deficiency disorder: clinical features, diagnosis, and management. Issue 6 (June 2022) Authors: Leonard, Helen; Downs, Jenny; Benke, Tim A; Swanson, Lindsay; Olson, Heather; Demarest, Scott Journal: Lancet neurology Issue: Volume 21:Issue 6(2022) Page Start: 563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cerebral Visual Impairment in CDKL5 Deficiency Disorder Correlates With Developmental Achievement. (October 2021) Authors: Brock, Dylan; Fidell, Andrea; Thomas, Jacob; Juarez-Colunga, Elizabeth; Benke, Tim A.; Demarest, Scott Journal: Journal of child neurology Issue: Volume 36:Number 11(2021) Page Start: 974 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder. (October 2021) Authors: Saldaris, Jacinta; Weisenberg, Judith; Pestana-Knight, Elia; Marsh, Eric D.; Suter, Bernhard; Rajaraman, Rajsekar; Heidary, Gena; Olson, Heather E.; Devinsky, Orrin; Price, Dana; Jacoby, Peter; Leonard, Helen; Benke, Tim A.; Demarest, Scott; Downs, Jenny Journal: Journal of child neurology Issue: Volume 36:Number 11(2021) Page Start: 998 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Current knowledge of SLC6A1-related neurodevelopmental disorders. Issue 2 (13th October 2020) Authors: Goodspeed, Kimberly; Pérez-Palma, Eduardo; Iqbal, Sumaiya; Cooper, Dominique; Scimemi, Annalisa; Johannesen, Katrine M; Stefanski, Arthur; Demarest, Scott; Helbig, Katherine L; Kang, Jingqiong; Shaffo, Frances C; Prentice, Brandon; Brownstein, Catherine A; Lim, Byungchan; Helbig, Ingo; De Los Rey... Journal: Brain communications Issue: Volume 2:Issue 2(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition. (September 2015) Authors: Vanderver, Adeline; Prust, Morgan; Kadom, Nadja; Demarest, Scott; Crow, Yanick J.; Helman, Guy; Orcesi, Simona; Piana, Roberta La; Uggetti, Carla; Wang, Jichuan; Gordisch-Dressman, Heather; van der Knaap, Marjo S.; Livingston, John H. Journal: Journal of child neurology Issue: Volume 30:Number 10(2015:Sep.) Page Start: 1343 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Evolution of Infantile Spasms to Lennox-Gastaut Syndrome: What Is There to Know?. (August 2021) Authors: Nelson, Julie A.; Demarest, Scott; Thomas, Jake; Juarez-Colunga, Elizabeth; Knupp, Kelly G. Journal: Journal of child neurology Issue: Volume 36:Number 9(2021) Page Start: 752 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. From molecules to medicines: the dawn of targeted therapies for genetic epilepsies. Issue 12 (December 2018) Authors: Demarest, Scott; Brooks-Kayal, Amy Journal: Nature reviews Issue: Volume 14:Issue 12(2018) Page Start: 735 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand). (May 2022) Authors: Saldaris, Jacinta; Leonard, Helen; Jacoby, Peter; Marsh, Eric D.; Benke, Tim A.; Demarest, Scott; Downs, Jenny Journal: Journal of child neurology Issue: Volume 37:Number 6(2022) Page Start: 541 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗