Detalhe da pesquisa
1.
Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study.
Am J Med Genet A
; : e63570, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38425131
2.
Long-term treatment with ganaxolone for seizures associated with cyclin-dependent kinase-like 5 deficiency disorder: Two-year open-label extension follow-up.
Epilepsia
; 65(1): 37-45, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37950390
3.
CDKL5 deficiency disorder and other infantile-onset genetic epilepsies.
Dev Med Child Neurol
; 66(4): 456-468, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37771170
4.
Analysis of electrocardiograms in individuals with CDKL5 deficiency disorder.
Am J Med Genet A
; 191(1): 108-111, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36372969
5.
Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first-line therapies.
Epilepsia
; 64(7): 1821-1832, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37114835
6.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Brain
; 145(1): 208-223, 2022 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34382076
7.
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Brain
; 145(5): 1668-1683, 2022 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35190816
8.
Psychometric properties of QI-Disability in CDKL5 Deficiency Disorder: Establishing readiness for clinical trials.
Epilepsy Behav
; 139: 109069, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36634535
9.
Efficacy, safety, and tolerability of soticlestat as adjunctive therapy for the treatment of seizures in patients with Dup15q syndrome or CDKL5 deficiency disorder in an open-label signal-finding phase II study (ARCADE).
Epilepsy Behav
; 142: 109173, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37011526
10.
Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress.
Epilepsia
; 63(10): 2461-2475, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35716052
11.
Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin-dependent kinase-like 5 deficiency disorder.
J Sleep Res
; 31(5): e13600, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35415902
12.
Whole-exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms.
Dev Med Child Neurol
; 64(5): 633-640, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35830182
13.
Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset.
Clin Genet
; 99(1): 157-165, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33047306
14.
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders.
Ann Neurol
; 88(2): 264-273, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32342562
15.
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
Brain
; 142(3): 542-559, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30668673
16.
Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition.
Neurobiol Dis
; 132: 104577, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31425744
17.
CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development.
Epilepsia
; 60(8): 1733-1742, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31313283
18.
The impact of hypsarrhythmia on infantile spasms treatment response: Observational cohort study from the National Infantile Spasms Consortium.
Epilepsia
; 58(12): 2098-2103, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29105055
19.
Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder.
Front Neurosci
; 17: 1024388, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36895422
20.
Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder.
Eur J Hum Genet
; 31(2): 169-178, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35978140