297 related articles for article (PubMed ID: 35483386)
1. CDKL5 deficiency disorder: clinical features, diagnosis, and management.
Leonard H; Downs J; Benke TA; Swanson L; Olson H; Demarest S
Lancet Neurol; 2022 Jun; 21(6):563-576. PubMed ID: 35483386
[TBL] [Abstract][Full Text] [Related]
2. Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder.
Olson HE; Daniels CI; Haviland I; Swanson LC; Greene CA; Denny AMM; Demarest ST; Pestana-Knight E; Zhang X; Moosa AN; Fidell A; Weisenberg JL; Suter B; Fu C; Neul JL; Percy AK; Marsh ED; Benke TA; Poduri A
J Neurodev Disord; 2021 Sep; 13(1):40. PubMed ID: 34530725
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. CDKL5 Deficiency Disorder-Related Epilepsy: A Review of Current and Emerging Treatment.
Hong W; Haviland I; Pestana-Knight E; Weisenberg JL; Demarest S; Marsh ED; Olson HE
CNS Drugs; 2022 Jun; 36(6):591-604. PubMed ID: 35633486
[TBL] [Abstract][Full Text] [Related]
7. Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants.
Kobayashi Y; Tohyama J; Takahashi Y; Goto T; Haginoya K; Inoue T; Kubota M; Fujita H; Honda R; Ito M; Kishimoto K; Nakamura K; Sakai Y; Takanashi JI; Tanaka M; Tanda K; Tominaga K; Yoshioka S; Kato M; Nakashima M; Saitsu H; Matsumoto N
Brain Dev; 2021 Apr; 43(4):505-514. PubMed ID: 33436160
[TBL] [Abstract][Full Text] [Related]
8. Clinical evolution and epilepsy outcome in three patients with CDKL5-related developmental encephalopathy.
Bernardo P; Ferretti A; Terrone G; Santoro C; Bravaccio C; Striano S; Coppola A; Striano P
Epileptic Disord; 2019 Jun; 21(3):271-277. PubMed ID: 31225800
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. CDKL5 deficiency disorder and other infantile-onset genetic epilepsies.
Daniels C; Greene C; Smith L; Pestana-Knight E; Demarest S; Zhang B; Benke TA; Poduri A; Olson HE;
Dev Med Child Neurol; 2024 Apr; 66(4):456-468. PubMed ID: 37771170
[TBL] [Abstract][Full Text] [Related]
12. Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder.
Leonard H; Junaid M; Wong K; Demarest S; Downs J
Epilepsy Res; 2021 Jan; 169():106521. PubMed ID: 33341033
[TBL] [Abstract][Full Text] [Related]
13. Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.
Olson HE; Demarest ST; Pestana-Knight EM; Swanson LC; Iqbal S; Lal D; Leonard H; Cross JH; Devinsky O; Benke TA
Pediatr Neurol; 2019 Aug; 97():18-25. PubMed ID: 30928302
[TBL] [Abstract][Full Text] [Related]
14. Rett Syndrome and CDKL5 Deficiency Disorder: From Bench to Clinic.
Kadam SD; Sullivan BJ; Goyal A; Blue ME; Smith-Hicks C
Int J Mol Sci; 2019 Oct; 20(20):. PubMed ID: 31618813
[TBL] [Abstract][Full Text] [Related]
15. First report of Tunisian patients with CDKL5-related encephalopathy.
Charfi Triki C; Zouari Mallouli S; Ben Jdila M; Ben Said M; Kamoun Feki F; Weckhuysen S; Masmoudi S; Fakhfakh F
Epilepsia Open; 2024 Jun; 9(3):906-917. PubMed ID: 37701975
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. CDKL5 deficiency disorder: a pathophysiology of neural maintenance.
Kind PC; Bird A
J Clin Invest; 2021 Nov; 131(21):. PubMed ID: 34720088
[TBL] [Abstract][Full Text] [Related]
19. CDKL5 deficiency disorder: At the intersection between Rett syndrome and developmental epileptic encephalopathies.
Kaufmann WE
Dev Med Child Neurol; 2024 Apr; 66(4):410-411. PubMed ID: 37881024
[No Abstract] [Full Text] [Related]
20. 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]
[Next] [New Search]
