144 related articles for article (PubMed ID: 38411242)
1. CDKL5 Deficiency Disorder: Some Lessons Learned 20 Years After the First Description.
Pestana Knight EM; Olson HE
Am J Intellect Dev Disabil; 2024 Mar; 129(2):101-109. PubMed ID: 38411242
[TBL] [Abstract][Full Text] [Related]
2. CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development.
Demarest ST; Olson HE; Moss A; Pestana-Knight E; Zhang X; Parikh S; Swanson LC; Riley KD; Bazin GA; Angione K; Niestroj LM; Lal D; Juarez-Colunga E; Benke TA
Epilepsia; 2019 Aug; 60(8):1733-1742. PubMed ID: 31313283
[TBL] [Abstract][Full Text] [Related]
3. CDKL5 deficiency disorder in males: Five new variants and review of the literature.
Siri B; Varesio C; Freri E; Darra F; Gana S; Mei D; Porta F; Fontana E; Galati G; Solazzi R; Niceta M; Veggiotti P; Alfei E
Eur J Paediatr Neurol; 2021 Jul; 33():9-20. PubMed ID: 33989939
[TBL] [Abstract][Full Text] [Related]
4. Aged heterozygous Cdkl5 mutant mice exhibit spontaneous epileptic spasms.
Mulcahey PJ; Tang S; Takano H; White A; Davila Portillo DR; Kane OM; Marsh ED; Zhou Z; Coulter DA
Exp Neurol; 2020 Oct; 332():113388. PubMed ID: 32585155
[TBL] [Abstract][Full Text] [Related]
5. Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder.
Van Bergen NJ; Massey S; Stait T; Ellery M; Reljić B; Formosa LE; Quigley A; Dottori M; Thorburn D; Stroud DA; Christodoulou J
Neurobiol Dis; 2021 Jul; 155():105370. PubMed ID: 33905871
[TBL] [Abstract][Full Text] [Related]
6. Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders.
Yan Y; He D; Wu J; Hou R; Sun K; Li L
Ital J Pediatr; 2020 Feb; 46(1):27. PubMed ID: 32111237
[TBL] [Abstract][Full Text] [Related]
7. CDKL5 deficiency in forebrain glutamatergic neurons results in recurrent spontaneous seizures.
Wang HT; Zhu ZA; Li YY; Lou SS; Yang G; Feng X; Xu W; Huang ZL; Cheng X; Xiong ZQ
Epilepsia; 2021 Feb; 62(2):517-528. PubMed ID: 33400301
[TBL] [Abstract][Full Text] [Related]
8. Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?
MacKay CI; Bick D; Prokop JW; Muñoz I; Rouse J; Downs J; Leonard H
Am J Med Genet A; 2020 May; 182(5):1217-1222. PubMed ID: 32034940
[TBL] [Abstract][Full Text] [Related]
9. AMPA Receptor Dysregulation and Therapeutic Interventions in a Mouse Model of CDKL5 Deficiency Disorder.
Yennawar M; White RS; Jensen FE
J Neurosci; 2019 Jun; 39(24):4814-4828. PubMed ID: 30952813
[TBL] [Abstract][Full Text] [Related]
10. Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder.
Katayama S; Sueyoshi N; Inazu T; Kameshita I
Neural Plast; 2020; 2020():6970190. PubMed ID: 32587608
[TBL] [Abstract][Full Text] [Related]
11. Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients.
Kluckova D; Kolnikova M; Medova V; Bognar C; Foltan T; Svecova L; Gnip A; Kadasi L; Soltysova A; Ficek A
Epilepsy Res; 2021 Oct; 176():106699. PubMed ID: 34229227
[TBL] [Abstract][Full Text] [Related]
12. Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey.
Amin S; Møller RS; Aledo-Serrano A; Arzimanoglou A; Bager P; Jóźwiak S; Kluger GJ; López-Cabeza S; Nabbout R; Partridge CA; Schubert-Bast S; Specchio N; Kälviäinen R
Epilepsia Open; 2024 Jun; 9(3):832-849. PubMed ID: 38450883
[TBL] [Abstract][Full Text] [Related]
13. A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder.
Tangarorang J; Leonard H; Epstein A; Downs J
Am J Med Genet A; 2019 Feb; 179(2):249-256. PubMed ID: 30561084
[TBL] [Abstract][Full Text] [Related]
14. Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset.
MacKay CI; Wong K; Demarest ST; Benke TA; Downs J; Leonard H
Clin Genet; 2021 Jan; 99(1):157-165. PubMed ID: 33047306
[TBL] [Abstract][Full Text] [Related]
15. CDKL5 Deficiency Disorder Without Epilepsy.
Aznar-Laín G; Fernández-Mayoralas DM; Caicoya AG; Rocamora R; Pérez-Jurado LA
Pediatr Neurol; 2023 Jul; 144():84-89. PubMed ID: 37201242
[TBL] [Abstract][Full Text] [Related]
16. X-linked cellular mosaicism underlies age-dependent occurrence of seizure-like events in mouse models of CDKL5 deficiency disorder.
Terzic B; Cui Y; Edmondson AC; Tang S; Sarmiento N; Zaitseva D; Marsh ED; Coulter DA; Zhou Z
Neurobiol Dis; 2021 Jan; 148():105176. PubMed ID: 33197557
[TBL] [Abstract][Full Text] [Related]
17. CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development.
Van Bergen NJ; Massey S; Quigley A; Rollo B; Harris AR; Kapsa RMI; Christodoulou J
Biochem Soc Trans; 2022 Aug; 50(4):1207-1224. PubMed ID: 35997111
[TBL] [Abstract][Full Text] [Related]
18. Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand).
Saldaris J; Leonard H; Jacoby P; Marsh ED; Benke TA; Demarest S; Downs J
J Child Neurol; 2022 May; 37(6):541-547. PubMed ID: 35422141
[TBL] [Abstract][Full Text] [Related]
19. Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study.
Keeley J; Benson-Goldberg S; Saldaris J; Lariviere J; Leonard H; Marsh ED; Demarest ST; Benke TA; Jacoby P; Downs J
Am J Med Genet A; 2024 Jul; 194(7):e63570. PubMed ID: 38425131
[TBL] [Abstract][Full Text] [Related]
20. Dopaminergic loss of cyclin-dependent kinase-like 5 recapitulates methylphenidate-remediable hyperlocomotion in mouse model of CDKL5 deficiency disorder.
Jhang CL; Lee HY; Chen JC; Liao W
Hum Mol Genet; 2020 Aug; 29(14):2408-2419. PubMed ID: 32588892
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]