Publications by authors named "Scott Demarest"

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Chromosome 8p Syndromes Clinical Presentation and Management Guidelines.
Kourtney Santucci, Kristina E Malik, Katie Angione, Dana Bennink, Andrea Gerk, Drew Mancini, Megan Stringfellow, Tristen Dinkel, Scott Demarest, Andrea S Miele

Clin Genet· February 2025

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Parent/caregiver perspectives of meaningful improvement in functional domains for people with CDKL5 deficiency disorder: a mixed-methods study.
Jessica Keeley, Zoe Skoda, Karen Utley, Eric D Marsh, Gabrielle A Conecker, Scott T Demarest

Qual Life Res· December 2025

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Development and initial validation of the Communication Inventory Disability - Observer Reported (CID-OR): a measure of communication in CDKL5 deficiency disorder.
Jenny Downs, Jessica Keeley, Peter Jacoby, Sofia Benson-Goldberg, Sarah Pillar, Scott T Demarest

J Patient Rep Outcomes· December 2025

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Beyond Seizures as an Outcome Measure: A Global Severity Scoring System for CDKL5 Deficiency Disorder.
Peter Jacoby, Eric D Marsh, Scott Demarest, Jacinta M Saldaris, Helen Leonard

Brain Behav· November 2025

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Single-gene childhood developmental epileptic encephalopathies: a primer for pediatric neuropsychologists.
Ashley L Nguyen-Martinez, Morgan Jolliffe, Lauren M Scimeca, Kristen L Park, Scott Demarest

Child Neuropsychol· November 2025

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Splice-switching antisense oligonucleotides correct cryptic exon inclusion and restore SDCCAG8 protein in Bardet-Biedl Syndrome.
Kelleen E McEntee, Bailey L McCurdy, Austin Larson, Emily A McCourt, Michael L Kaufman, Scott Demarest

bioRxiv· October 2025

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Content Validation of the Communication Inventory Disability-Observer Reported (CID-OR).
Jessica Keeley, Jacinta Saldaris, Sofia Benson-Goldberg, Judy Lariviere, Helen Leonard, Scott T Demarest

J Child Neurol· September 2025

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Cortical Visual Impairment Across a Range of Neurodevelopmental Disorders: Clinical Characterization, Diagnostic Tool Evaluation, and Association with Developmental Outcomes.
Megan Abbott, Katie Angione, Megan Stringfellow, Kristina Malik, Margarita Saenz, Scott Demarest

J Child Neurol· August 2025

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Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia.
Harsha Murthy, Ny Hoang, Jamie C Stark, Sunny Cui, Emanuela Pannia, Scott Demarest

Brain· July 2025

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Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder.
Isabel Haviland, Ralph D Hector, Lindsay C Swanson, Aubrie Soucy Verran, Emma Sherrill, Scott Demarest

Am J Med Genet A· January 2025

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The natural history of CDKL5 deficiency disorder into adulthood.
Angel Aledo-Serrano, David Lewis-Smith, Helen Leonard, Allan Bayat, Mohamed Junaid, Scott Demarest

medRxiv· January 2025

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Modification of a parent-report sleep scale for individuals with CDKL5 deficiency disorder: a psychometric study.
Jacinta M Saldaris, Scott Demarest, Peter Jacoby, Heather E Olson, Kiran Maski

J Clin Sleep Med· December 2024

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Parent-reported outcome measures evaluating communication in individuals with rare neurodevelopmental disorders: A systematic review.
Jacinta M Saldaris, Jeremiah Ayalde, Samali Kankanange, Jessica Keeley, Helen Leonard, Scott T Demarest

Int J Lang Commun Disord· November 2024

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A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases.
Olivia Kim-McManus, Joseph G Gleeson, Laurence Mignon, Amena Smith Fine, Winston Yan, Scott Demarest

Nat Commun· November 2024

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Psychometric evaluation of clinician- and caregiver-reported clinical severity assessments for individuals with CDKL5 deficiency disorder.
Jacinta M Saldaris, Peter Jacoby, Jenny Downs, Eric D Marsh, Helen Leonard, Scott Demarest

Epilepsia· October 2024

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Prevalence of cerebral visual impairment in developmental and Epileptic Encephalopathies: a systematic review protocol.
Martina Giorgia Perinelli, Megan Abbott, Ganna Balagura, Antonella Riva, Elisabetta Amadori, Scott Demarest

Syst Rev· August 2024

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Validating the Communication and Symbolic Behavior Scales-Developmental Profile Infant-Toddler Checklist (CSBS-DP ITC) Beyond Infancy in the CDKL5 Deficiency Disorder.
Jacinta Saldaris, Helen Leonard, Kingsley Wong, Peter Jacoby, Mary Spence, Scott Demarest

J Autism Dev Disord· July 2024

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Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study.
Jessica Keeley, Sofia Benson-Goldberg, Jacinta Saldaris, Judy Lariviere, Helen Leonard, Scott T Demarest

Am J Med Genet A· July 2024

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CDKL5 deficiency disorder and other infantile-onset genetic epilepsies.
Carolyn Daniels, Caitlin Greene, Lacey Smith, Elia Pestana-Knight, Scott Demarest

Dev Med Child Neurol· April 2024

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Long-term treatment with ganaxolone for seizures associated with cyclin-dependent kinase-like 5 deficiency disorder: Two-year open-label extension follow-up.
Heather E Olson, Sam Amin, Nadia Bahi-Buisson, Orrin Devinsky, Eric D Marsh, Scott Demarest

Epilepsia· January 2024

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The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder.
Sonja I Ziniel, Alexandra Mackie, Jacinta Saldaris, Helen Leonard, Peter Jacoby, Scott Demarest

Epilepsy Res· November 2023

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Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first-line therapies.
Heather E Olson, Scott Demarest, Elia Pestana-Knight, Ahsan N Moosa, Xiaoming Zhang

Epilepsia· July 2023

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Epilepsy panels in clinical practice: Yield, variants of uncertain significance, and treatment implications.
Dylan C Brock, Megan Abbott, Laurel Reed, Ryan Kammeyer, Melissa Gibbons, Scott Demarest

Epilepsy Res· July 2023

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