Search Results - "Demarest ST"

Content Validation of the Communication Inventory Disability-Observer Reported (CID-OR).

Authors: Keeley J Saldaris J Benson-Goldberg S et al.

Source: Journal of child neurology [J Child Neurol] 2026 Apr; Vol. 41 (4), pp. 520-528. Date of Electronic Publication: 2025 Sep 03.

Publication Type: Journal Article; Validation Study

Journal Info: Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

Development and initial validation of the Communication Inventory Disability - Observer Reported (CID-OR): a measure of communication in CDKL5 deficiency disorder.

Authors: Downs J Keeley J Jacoby P et al.

Source: Journal of patient-reported outcomes [J Patient Rep Outcomes] 2025 Dec 09; Vol. 10 (1), pp. 6. Date of Electronic Publication: 2025 Dec 09.

Publication Type: Journal Article; Validation Study

Journal Info: Publisher: Springer International Publishing Country of Publication: Germany NLM ID: 101722688 Publication Model: Electronic Cited Medium: Internet ISSN: 2509-8020 (Electronic) Linking ISSN: 25098020 NLM ISO Abbreviation: J Patient Rep Outcomes Subsets: MEDLINE

Parent/caregiver perspectives of meaningful improvement in functional domains for people with CDKL5 deficiency disorder: a mixed-methods study.

Authors: Keeley J Skoda Z Utley K et al.

Source: Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation [Qual Life Res] 2025 Dec; Vol. 34 (12), pp. 3609-3620. Date of Electronic Publication: 2025 Sep 09.

Publication Type: Journal Article

Journal Info: Publisher: Springer Netherlands Country of Publication: Netherlands NLM ID: 9210257 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2649 (Electronic) Linking ISSN: 09629343 NLM ISO Abbreviation: Qual Life Res Subsets: MEDLINE

Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study.

Authors: Keeley J Benson-Goldberg S Saldaris J et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63570. Date of Electronic Publication: 2024 Feb 29.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Analysis of electrocardiograms in individuals with CDKL5 deficiency disorder.

Authors: Stansauk J Fidell A Benke T et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jan; Vol. 191 (1), pp. 108-111. Date of Electronic Publication: 2022 Nov 13.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Parent-reported outcome measures evaluating communication in individuals with rare neurodevelopmental disorders: A systematic review.

Authors: Saldaris JM Ayalde J Kankanange S et al.

Source: International journal of language & communication disorders [Int J Lang Commun Disord] 2024 Nov-Dec; Vol. 59 (6), pp. 2528-2553. Date of Electronic Publication: 2024 Aug 14.

Publication Type: Systematic Review; Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 9803709 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-6984 (Electronic) Linking ISSN: 13682822 NLM ISO Abbreviation: Int J Lang Commun Disord Subsets: MEDLINE

Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset.

Authors: MacKay CI Wong K Demarest ST et al.

Source: Clinical genetics [Clin Genet] 2021 Jan; Vol. 99 (1), pp. 157-165. Date of Electronic Publication: 2020 Oct 20.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development.

Authors: Demarest ST Olson HE Moss A et al.

Source: Epilepsia [Epilepsia] 2019 Aug; Vol. 60 (8), pp. 1733-1742. Date of Electronic Publication: 2019 Jul 16.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

The impact of hypsarrhythmia on infantile spasms treatment response: Observational cohort study from the National Infantile Spasms Consortium.

Authors: Demarest ST Shellhaas RA Gaillard WD et al.

Corporate Authors: Demarest ST Shellhaas RA Gaillard WD et al.

Source: Epilepsia [Epilepsia] 2017 Dec; Vol. 58 (12), pp. 2098-2103. Date of Electronic Publication: 2017 Nov 03.

Publication Type: Journal Article; Observational Study; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

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.

Authors: Knight EMP Amin S Bahi-Buisson N et al.

Corporate Authors: Knight EMP Amin S Bahi-Buisson N et al.

Source: The Lancet. Neurology [Lancet Neurol] 2022 May; Vol. 21 (5), pp. 417-427.

Publication Type: Clinical Trial, Phase III; Journal Article; Randomized Controlled Trial

Journal Info: Publisher: Lancet Pub. Group Country of Publication: England NLM ID: 101139309 Publication Model: Print Cited Medium: Internet ISSN: 1474-4465 (Electronic) Linking ISSN: 14744422 NLM ISO Abbreviation: Lancet Neurol Subsets: MEDLINE

Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder.

Authors: Olson HE Daniels CI Haviland I et al.

Source: Journal of neurodevelopmental disorders [J Neurodev Disord] 2021 Sep 16; Vol. 13 (1), pp. 40. Date of Electronic Publication: 2021 Sep 16.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101483832 Publication Model: Electronic Cited Medium: Internet ISSN: 1866-1955 (Electronic) Linking ISSN: 18661947 NLM ISO Abbreviation: J Neurodev Disord Subsets: MEDLINE

Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation.

Authors: Demarest ST Whitehead MT Turnacioglu S et al.

Source: Journal of child neurology [J Child Neurol] 2014 Sep; Vol. 29 (9), pp. 1249-56. Date of Electronic Publication: 2014 Jul 17.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.

Authors: Olson HE Demarest ST Pestana-Knight EM et al.

Source: Pediatric neurology [Pediatr Neurol] 2019 Aug; Vol. 97, pp. 18-25. Date of Electronic Publication: 2019 Feb 23.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review

Journal Info: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

From molecules to medicines: the dawn of targeted therapies for genetic epilepsies.

Authors: Demarest ST Brooks-Kayal A

Source: Nature reviews. Neurology [Nat Rev Neurol] 2018 Dec; Vol. 14 (12), pp. 735-745.

Publication Type: Journal Article; Review

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101500072 Publication Model: Print Cited Medium: Internet ISSN: 1759-4766 (Electronic) Linking ISSN: 17594758 NLM ISO Abbreviation: Nat Rev Neurol Subsets: MEDLINE

Diagnosis switching and outcomes in a cohort of patients with potential epilepsy with myoclonic-atonic seizures.

Authors: Eschbach K Moss A Joshi C et al.

Source: Epilepsy research [Epilepsy Res] 2018 Nov; Vol. 147, pp. 95-101. Date of Electronic Publication: 2018 Sep 24.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Elsevier Science Publishers Country of Publication: Netherlands NLM ID: 8703089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-6844 (Electronic) Linking ISSN: 09201211 NLM ISO Abbreviation: Epilepsy Res Subsets: MEDLINE

[Patterns of service use for mental health disorders in Belgium. Results of the European Study on Epidemiology of Mental Disorders (ESEMeD)].

Transliterated Title: Recours au soins pour les troubles mentaux en Belgique. Résultats de la European Study on Epidemiology of Mental Disorders (ESEMeD).

Authors: Bruffaerts R Bonnewyn A Van Oyen H et al.

Source: Revue medicale de Liege [Rev Med Liege] 2004 Mar; Vol. 59 (3), pp. 136-44.

Publication Type: English Abstract; Journal Article

Journal Info: Publisher: Hopital De Baviere Country of Publication: Belgium NLM ID: 0404317 Publication Model: Print Cited Medium: Print ISSN: 0370-629X (Print) Linking ISSN: 0370629X NLM ISO Abbreviation: Rev Med Liege Subsets: MEDLINE

[Prevalence of pure and comorbid mental disorders in Belgium].

Transliterated Title: Prévalence des troubles mentaux dans la population Belge. Résultats de l'European Study on Epidemiology of Mental Disorders (ESEMeD).

Authors: Bruffaerts R Bonnewyn A Van Oyen H et al.

Source: Revue medicale de Liege [Rev Med Liege] 2003 Dec; Vol. 58 (12), pp. 741-50.

Publication Type: English Abstract; Journal Article

Journal Info: Publisher: Hopital De Baviere Country of Publication: Belgium NLM ID: 0404317 Publication Model: Print Cited Medium: Print ISSN: 0370-629X (Print) Linking ISSN: 0370629X NLM ISO Abbreviation: Rev Med Liege Subsets: MEDLINE