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

Short-Term Outcomes and Immunologic Mechanisms of Adrenocorticotropic Hormone in Infantile Epileptic Spasm Syndrome: A Multicenter Prospective Trial in Southern China.

Authors: Ran, Yanping Peng, Bingwei Li, Jianwei et al.

Source: Neurology & Therapy. Dec2025, Vol. 14 Issue 6, p2669-2681. 13p.

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

Prevalence of cerebral visual impairment in developmental and Epileptic Encephalopathies: a systematic review protocol.

Authors: Perinelli, Martina Giorgia Abbott, Megan Balagura, Ganna et al.

Source: Systematic Reviews. 8/31/2024, Vol. 13 Issue 1, p1-6. 6p.

Identification of topological alterations using microstate dynamics in patients with infantile epileptic spasms syndrome.

Authors: Ahn, Seong-Ho Jang, Han Na Kim, Seeun et al.

Source: Scientific Reports. 3/19/2025, Vol. 15 Issue 1, p1-11. 11p.

Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder.

Authors: Simões de Oliveira, Laura O'Leary, Heather E. Nawaz, Sarfaraz et al.

Source: Molecular Autism. 6/14/2024, Vol. 15 Issue 1, p1-21. 21p.

Treatment of Seizures in People with Intellectual Disability.

Authors: Watkins LV Kinney M Shankar R

Source: CNS drugs [CNS Drugs] 2025 Feb; Vol. 39 (2), pp. 161-183. Date of Electronic Publication: 2025 Jan 03.

Publication Type: Journal Article; Review

Journal Info: Publisher: Adis, Springer International Country of Publication: New Zealand NLM ID: 9431220 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1179-1934 (Electronic) Linking ISSN: 11727047 NLM ISO Abbreviation: CNS Drugs Subsets: MEDLINE

Efficacy of ketogenic diet in CDKL5-related epilepsy: a single arm meta-analysis.

Authors: Zhang, Jie Ma, Jiayi Chang, Xuting et al.

Source: Orphanet Journal of Rare Diseases. 10/23/2022, Vol. 17 Issue 1, p1-9. 9p.

Genetic epilepsy (CDKL5 mutation).

Alternate Title: Epilepsie genetică (mutația CDKL5).

Authors: Istratuc, Irina Calcîi, Cornelia Feghiu, Ludmila et al.

Source: Journal for Neurology & Psychiatry of Child & Adolescent in Romania. jun 2025, Vol. 31 Issue 2, p67-76. 10p.

Preclinical and clinical pharmacology of brexanolone (allopregnanolone) for postpartum depression: a landmark journey from concept to clinic in neurosteroid replacement therapy.

Authors: Reddy, Doodipala Samba Mbilinyi, Robert H. Estes, Emily

Source: Psychopharmacology. Sep2023, Vol. 240 Issue 9, p1841-1863.

Shank3 deletion in PV neurons is associated with abnormal behaviors and neuronal functions that are rescued by increasing GABAergic signaling.

Authors: Pagano, Jessica Landi, Silvia Stefanoni, Alessia et al.

Source: Molecular Autism. 8/1/2023, Vol. 14 Issue 1, p1-21. 21p.

Mitochondrial dysfunction in epilepsy: mechanistic insights and clinical strategies.

Authors: Zhang X Wu Z Zhou X et al.

Source: Molecular biology reports [Mol Biol Rep] 2025 May 20; Vol. 52 (1), pp. 470. Date of Electronic Publication: 2025 May 20.

Publication Type: Journal Article; Review

Journal Info: Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE

A narrative review of the placebo effect: historical roots, current applications, and emerging insights.

Authors: Ozpolat C Okcay Y Ulusoy KG et al.

Source: European journal of clinical pharmacology [Eur J Clin Pharmacol] 2025 May; Vol. 81 (5), pp. 625-645. Date of Electronic Publication: 2025 Mar 13.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Country of Publication: Germany NLM ID: 1256165 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1041 (Electronic) Linking ISSN: 00316970 NLM ISO Abbreviation: Eur J Clin Pharmacol Subsets: MEDLINE

EEG, clinical, and MRI features of status epilepticus associated with mitochondrial diseases.

Authors: Damiano M Lambrecq V Nguyen-Michel VH et al.

Source: Journal of neurology [J Neurol] 2026 Feb 23; Vol. 273 (2). Date of Electronic Publication: 2026 Feb 23.

Publication Type: Journal Article

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

Ganaxolone: A New Treatment for CDKL5 Deficiency Disorder.

Authors: Vossler, David G.¹ (AUTHOR)

Source: Epilepsy Currents. Nov2022, Vol. 22 Issue 6, p348-350. 3p.

Treatment with FRAX486 rescues neurobehavioral and metabolic alterations in a female mouse model of CDKL5 deficiency disorder.

Authors: Fuchs, Claudia Cosentino, Livia Urbinati, Chiara et al.

Source: CNS Neuroscience & Therapeutics. Nov2022, Vol. 28 Issue 11, p1718-1732. 15p.

Navigating Uncertainty: Assessing Variants of Uncertain Significance in the CDKL5 Gene for Developmental and Epileptic Encephalopathy Using In Silico Prediction Tools and Computational Analysis.

Authors: Yalçın Çapan Ö; Department of Medical Biology, Faculty of Medicine, Tekirdağ Namık Kemal University, Tekirdağ, Türkiye. oycapan@nku.edu.tr.

Source: Journal of molecular neuroscience : MN [J Mol Neurosci] 2025 Feb 13; Vol. 75 (1), pp. 19. Date of Electronic Publication: 2025 Feb 13.

Publication Type: Journal Article

Journal Info: Publisher: Humana Press Country of Publication: United States NLM ID: 9002991 Publication Model: Electronic Cited Medium: Internet ISSN: 1559-1166 (Electronic) Linking ISSN: 08958696 NLM ISO Abbreviation: J Mol Neurosci Subsets: MEDLINE

Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders.

Authors: Yan, Yumei He, Dake Wu, Jing et al.

Source: Italian Journal of Pediatrics. 2/28/2020, Vol. 46 Issue 1, p1-6. 6p.

Does Etiology and Hypsarrhythmia Subtype Influence Outcome in West Syndrome? Challenges Encountered from a Referral Center Perspective.

Authors: Chandrasekharan, Soumya Menon, Ramshekhar Nanda, Satyan et al.

Source: Neurology India. Jan/Feb2022, Vol. 70 Issue 1, p188-196. 9p.