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Page 1
Epilepsy in ring chromosome 20 syndrome.
Vignoli A, Bisulli F, Darra F, Mastrangelo M, Barba C, Giordano L, Turner K, Zambrelli E, Chiesa V, Bova S, Fiocchi I, Peron A, Naldi I, Milito G, Licchetta L, Tinuper P, Guerrini R, Dalla Bernardina B, Canevini MP. Vignoli A, et al. Epilepsy Res. 2016 Dec;128:83-93. doi: 10.1016/j.eplepsyres.2016.10.004. Epub 2016 Oct 24. Epilepsy Res. 2016. PMID: 27816898
OBJECTIVE: Ring chromosome 20 syndrome is characterized by severe, drug resistant childhood onset epilepsy, often accompanied by cognitive impairment. ...Although in the study cohort the relationship between r(20) ratio, age at epilepsy onset and cogni …
OBJECTIVE: Ring chromosome 20 syndrome is characterized by severe, drug resistant childhood onset epilepsy, ofte …
Status Epilepticus in Chromosomal Disorders Associated with Epilepsy: A Systematic Review.
Bergonzini L, Pruccoli J, Pettenuzzo I, Pugliano R, Soliani L, Fetta A, Cordelli DM. Bergonzini L, et al. Genes (Basel). 2023 Jan 23;14(2):299. doi: 10.3390/genes14020299. Genes (Basel). 2023. PMID: 36833226 Free PMC article.
A total of 373 studies were identified with the initial search; 65 of these were selected and regarded as SE in Angelman Syndrome (AS, n = 20), Ring 20 Syndrome (R20, n = 24), and other syndromes (n = 21). Non-convulsive status epilepticus (NCSE) is frequentl …
A total of 373 studies were identified with the initial search; 65 of these were selected and regarded as SE in Angelman Syndrome (AS, n = 2 …
Specificity of electroclinical features in the diagnosis of ring chromosome 20.
Gago-Veiga AB, Toledano R, García-Morales I, Pérez-Jiménez MA, Bernar J, Gil-Nagel A. Gago-Veiga AB, et al. Epilepsy Behav. 2018 Mar;80:215-220. doi: 10.1016/j.yebeh.2017.12.001. Epub 2018 Feb 3. Epilepsy Behav. 2018. PMID: 29414555
BACKGROUND: Ring chromosome 20 (R20) syndrome is a chromosomal disorder characterized mainly by drug-resistant frontal lobe seizures, recurrent nonconvulsive status epilepticus (NCSE), and typical EEG features. ...
BACKGROUND: Ring chromosome 20 (R20) syndrome is a chromosomal disorder characterized mainly by drug-resistant frontal …
Long-term EEG in patients with the ring chromosome 20 epilepsy syndrome.
Freire de Moura M, Flores-Guevara R, Gueguen B, Biraben A, Renault F. Freire de Moura M, et al. Epilepsia. 2016 May;57(5):e94-6. doi: 10.1111/epi.13352. Epub 2016 Mar 24. Epilepsia. 2016. PMID: 27009934
The recognizable electroencephalography (EEG) pattern of ring chromosome 20 epilepsy syndrome can be missing in patients with r(20) chromosomal anomaly, and may be found in patients with frontal lobe epilepsy of other origin. ...
The recognizable electroencephalography (EEG) pattern of ring chromosome 20 epilepsy syndrome can be miss …
Transcriptome analysis of a ring chromosome 20 patient cohort.
Myers KA, Bennett MF, Hildebrand MS, Coleman MJ, Zhou G, Hollingsworth G, Cairns A, Riney K, Berkovic SF, Bahlo M, Scheffer IE. Myers KA, et al. Epilepsia. 2021 Jan;62(1):e22-e28. doi: 10.1111/epi.16766. Epub 2020 Nov 18. Epilepsia. 2021. PMID: 33207017
Ring chromosomes occur when the ends of normally rod-shaped chromosomes fuse. In ring chromosome 20 (ring 20), intellectual disability and epilepsy are usually present, even if there is no deleted coding material; the mechanism by which individuals with compl …
Ring chromosomes occur when the ends of normally rod-shaped chromosomes fuse. In ring chromosome 20 (ring 20), intellec …
A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature.
Unterberger I, Dobesberger J, Schober H, Krabichler B, Lamina C, Schatz U, Zschocke J, Luef G, Kotzot D, Fauth C. Unterberger I, et al. Eur J Med Genet. 2019 Nov;62(11):103564. doi: 10.1016/j.ejmg.2018.10.016. Epub 2018 Oct 29. Eur J Med Genet. 2019. PMID: 30385235
Ring chromosome 20 syndrome is a rare chromosomal disorder characterized by childhood-onset drug-resistant epilepsy, behavioral problems and variable cognitive impairment. ...
Ring chromosome 20 syndrome is a rare chromosomal disorder characterized by childhood-onset drug-resistant epile …
Ring 20 syndrome: A call to action.
James WD, Roth R, Fitzgerald M. James WD, et al. Epilepsia. 2024 Apr;65(4):1147-1148. doi: 10.1111/epi.17941. Epub 2024 Mar 5. Epilepsia. 2024. PMID: 38441298 No abstract available.
Long-term seizure and psychosocial outcomes of patients with ring chromosome 20 syndrome: A cohort study of 47 cases.
Tokumoto K, Nishida T, Ikeda H, Ikeda H, Kawaguchi N, Mizutani S, Yamaguchi T, Ohtani H, Yamazaki E, Usui N, Imai K, Inoue Y. Tokumoto K, et al. Epilepsia. 2025 Jul;66(7):2444-2453. doi: 10.1111/epi.18370. Epub 2025 Mar 22. Epilepsia. 2025. PMID: 40119828 Free PMC article.
OBJECTIVE: We retrospectively investigated a cohort of patients with ring chromosome 20 syndrome (r20), aiming to provide information on the prognosis of r20 regarding seizures, cognitive function, comorbidities, and social living. ...
OBJECTIVE: We retrospectively investigated a cohort of patients with ring chromosome 20 syndrome (r20), aiming t …
Praxis-induced reflex seizures in two Japanese cases with ring chromosome 20 syndrome.
Yamagishi H, Goto M, Osaka H, Kuwajima M, Muramatsu K, Yamagata T. Yamagishi H, et al. Epileptic Disord. 2020 Apr 1;22(2):214-218. doi: 10.1684/epd.2020.1146. Epileptic Disord. 2020. PMID: 32301722
However, details of other clinical features associated with ring chromosome 20 syndrome remain unknown. Here, we report two patients with ring chromosome 20 syndrome who had praxis-induced reflex seizures. ...Therefore, in a …
However, details of other clinical features associated with ring chromosome 20 syndrome remain unknown. Here, we …
Refractory and severe status epilepticus in a patient with ring chromosome 20 syndrome.
Hirano Y, Oguni H, Nagata S. Hirano Y, et al. Brain Dev. 2016 Sep;38(8):746-9. doi: 10.1016/j.braindev.2016.02.013. Epub 2016 Mar 12. Brain Dev. 2016. PMID: 26980640
Ring chromosome 20 [r(20)] syndrome is a rare chromosomal disorder that is characterized by the development of refractory epilepsy during childhood with gradual declines in cognitive performance and behavior. ...
Ring chromosome 20 [r(20)] syndrome is a rare chromosomal disorder that is characterized by the development of refracto …
13 results