289 related articles for article (PubMed ID: 31313283)
1. 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]
2. 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]
3. 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]
4. 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]
5. CDKL5-associated developmental and epileptic encephalopathy: A long-term, longitudinal electroclinical study of 22 cases.
Darra F; Monchelato M; Loos M; Juanes M; Bernardina BD; Valenzuela GR; Gallo A; Caraballo R
Epilepsy Res; 2023 Feb; 190():107098. PubMed ID: 36739728
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Cerebral Visual Impairment in CDKL5 Deficiency Disorder Correlates With Developmental Achievement.
Brock D; Fidell A; Thomas J; Juarez-Colunga E; Benke TA; Demarest S
J Child Neurol; 2021 Oct; 36(11):974-980. PubMed ID: 34547934
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. 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]
13. Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure.
Olson HE; Costantini JG; Swanson LC; Kaufmann WE; Benke TA; Fulton AB; Hansen R; Poduri A; Heidary G
Dev Med Child Neurol; 2021 Nov; 63(11):1308-1315. PubMed ID: 34028805
[TBL] [Abstract][Full Text] [Related]
14. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.
Archer HL; Evans J; Edwards S; Colley J; Newbury-Ecob R; O'Callaghan F; Huyton M; O'Regan M; Tolmie J; Sampson J; Clarke A; Osborne J
J Med Genet; 2006 Sep; 43(9):729-34. PubMed ID: 16611748
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
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. 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]
20. 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]
[Next] [New Search]
