1. 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) ↗
2. The Lived Experience of Parents' Receiving the Diagnosis of CDKL5 Deficiency Disorder for Their Child. (May 2022) Authors: Demarest, Scott; Marsh, Rebekah; Treat, Lauren; Fisher, Michael P.; Dempsey, Amanda; Junaid, Mohammed; Downs, Jenny; Leonard, Helen; Benke, Tim; Morris, Megan A. Journal: Journal of child neurology Issue: Volume 37:Number 6(2022) Page Start: 451 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress. Issue 10 (17th July 2022) Authors: Knowles, Juliet K.; Helbig, Ingo; Metcalf, Cameron S.; Lubbers, Laura S.; Isom, Lori L.; Demarest, Scott; Goldberg, Ethan M.; George, Alfred L.; Lerche, Holger; Weckhuysen, Sarah; Whittemore, Vicky; Berkovic, Samuel F.; Lowenstein, Daniel H. Journal: Epilepsia Issue: Volume 63:Issue 10(2022) Page Start: 2461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin‐dependent kinase‐like 5 deficiency disorder. (12th April 2022) Authors: Downs, Jenny; Jacoby, Peter; Saldaris, Jacinta; Leonard, Helen; Benke, Tim; Marsh, Eric; Demarest, Scott Journal: Journal of sleep research Issue: Volume 31:Number 5(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Quality of life beyond diagnosis in intellectual disability – Latent profiling. (October 2022) Authors: Leonard, Helen; Whitehouse, Andrew; Jacoby, Peter; Benke, Tim; Demarest, Scott; Saldaris, Jacinta; Wong, Kingsley; Reddihough, Dinah; Williams, Katrina; Downs, Jenny Journal: Research in developmental disabilities Issue: Volume 129(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. 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) ↗
9. 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) ↗
10. 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) ↗