1. 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) ↗
2. Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial. Issue 5 (May 2022) Authors: Knight, Elia M Pestana; Amin, Sam; Bahi-Buisson, Nadia; Benke, Tim A; Cross, J Helen; Demarest, Scott T; Olson, Heather E; Specchio, Nicola; Fleming, Thomas R; Aimetti, Alex A; Gasior, Maciej; Devinsky, Orrin; Belousova, Elena; Belyaev, Oleg; Ben-Zeev, Bruria; Brunklaus, Andreas; Ciliberto, Micha... Journal: Lancet neurology Issue: Volume 21:Issue 5(2022) Page Start: 417 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Whole‐exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms. (19th November 2021) Authors: Demarest, Scott; Calhoun, Jeff; Eschbach, Krista; Yu, Hung‐Chun; Mirsky, David; Angione, Katie; Shaikh, Tamim H; Carvill, Gemma L; Benke, Tim A Other Names: Geiger Elizabeth A investigator.; Gunti Jonathan investigator.; Vanderveen Gina investigator. Journal: Developmental medicine & child neurology Issue: Volume 64:Number 5(2022) Page Start: 633 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗