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2002 2
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Quoted phrase not found in phrase index: "Myoclonus, familial, 1"
Page 1
Diagnosis and Management of Opsoclonus-Myoclonus-Ataxia Syndrome in Children: An International Perspective.
Rossor T, Yeh EA, Khakoo Y, Angelini P, Hemingway C, Irani SR, Schleiermacher G, Santosh P, Lotze T, Dale RC, Deiva K, Hero B, Klein A, de Alarcon P, Gorman MP, Mitchell WG, Lim M; OMS Study Group. Rossor T, et al. Neurol Neuroimmunol Neuroinflamm. 2022 Mar 8;9(3):e1153. doi: 10.1212/NXI.0000000000001153. Print 2022 May. Neurol Neuroimmunol Neuroinflamm. 2022. PMID: 35260471 Free PMC article. Review.
BACKGROUND AND OBJECTIVES: Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare disorder of the nervous system that classically presents with a combination of characteristic eye movement disorder and myoclonus, in addition to ataxia, irritability, and sleep disturb …
BACKGROUND AND OBJECTIVES: Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare disorder of the nervous system that classically pres …
A comprehensive narrative review of epilepsy with eyelid myoclonia.
Smith KM, Wirrell EC, Andrade DM, Choi H, Trenité DK, Knupp KG, Nordli DR Jr, Riva A, Stern JM, Striano P, Thiele EA, Zawar I. Smith KM, et al. Epilepsy Res. 2023 Jul;193:107147. doi: 10.1016/j.eplepsyres.2023.107147. Epub 2023 Apr 26. Epilepsy Res. 2023. PMID: 37121024 Free article. Review.
Epilepsy with eyelid myoclonia (EEM) is a generalized epilepsy syndrome with childhood-onset and 2:1 female predominance that consists of: 1. eyelid myoclonia with or without absence seizures, 2. eye closure induced seizures or EEG paroxysms, 3. clinical or EEG phot …
Epilepsy with eyelid myoclonia (EEM) is a generalized epilepsy syndrome with childhood-onset and 2:1 female predominance that consist …
The monogenic primary dystonias.
Müller U. Müller U. Brain. 2009 Aug;132(Pt 8):2005-25. doi: 10.1093/brain/awp172. Epub 2009 Jul 3. Brain. 2009. PMID: 19578124 Review.
Presently, 17 distinct monogenic primary dystonias referred to as dystonias 1- 4, 5a,b, 6-8, 10-13 and 15-18 (loci DYT 1-4, 5a,b, 6-8, 10-13, 15-18) have been recognized. ...Neuropathological findings at the microscopic level have also been reported in several cases …
Presently, 17 distinct monogenic primary dystonias referred to as dystonias 1- 4, 5a,b, 6-8, 10-13 and 15-18 (loci DYT 1-4, 5a …
Carbamazepine-, Oxcarbazepine-, Eslicarbazepine-Associated Movement Disorder: A Literature Review.
Rissardo JP, Caprara ALF. Rissardo JP, et al. Clin Neuropharmacol. 2020 May/Jun;43(3):66-80. doi: 10.1097/WNF.0000000000000387. Clin Neuropharmacol. 2020. PMID: 32384309 Review.
A total of 73 reports containing 191 individuals who developed MD associated with CBZ/OXC/ESL were identified. Were found, respectively, the following: 33 patients with myoclonus, 23 with dystonia, 14 with tics, 13 with dyskinesia, 8 with parkinsonism, and 5 with akathisia …
A total of 73 reports containing 191 individuals who developed MD associated with CBZ/OXC/ESL were identified. Were found, respectively, the …
Psychogenic movement disorders in children and adolescents: an update.
Harris SR. Harris SR. Eur J Pediatr. 2019 Apr;178(4):581-585. doi: 10.1007/s00431-019-03317-8. Epub 2019 Jan 11. Eur J Pediatr. 2019. PMID: 30635706 Review.
In group studies over the past decade, sample prevalence of childhood PMD ranged from 2.8 to 23.1%, with a higher percentage of girls in most studies (consistent with adult PMD literature). Common types of PMD included tremor (32.4%), dystonia (29.5%), and myoclonus …
In group studies over the past decade, sample prevalence of childhood PMD ranged from 2.8 to 23.1%, with a higher percentage of girls …
Acute Movement Disorders in Childhood: A Cohort Study and Review of the Literature.
Benrhouma H, Nasri A, Klaa H, Ben Achour N, Rouissi A, Kraoua I, Turki I. Benrhouma H, et al. Pediatr Emerg Care. 2021 Nov 1;37(11):e719-e725. doi: 10.1097/PEC.0000000000002017. Pediatr Emerg Care. 2021. PMID: 34469400 Review.
RESULTS: Acute movement disorders were mainly hyperkinetic (n = 67 with dystonia (n = 33; mostly due to inherited metabolic diseases (IMD) in 11; with status epilepticus in 10 children), chorea (n = 14; with Sydenham chorea in 5); myoclonus (n = 14; mostly with opsoclonus- …
RESULTS: Acute movement disorders were mainly hyperkinetic (n = 67 with dystonia (n = 33; mostly due to inherited metabolic diseases (IMD) i …
Differences between dedicated and not dedicated hospice physicians in symptoms and signs improvement among advanced cancer patients.
Chung JH, Kim SH, Suh SY, Cheng SY, Mori M, Yamaguchi T, Chen PJ, Morita T, Tsuneto S; EASED Investigators. Chung JH, et al. Medicine (Baltimore). 2021 Aug 13;100(32):e26915. doi: 10.1097/MD.0000000000026915. Medicine (Baltimore). 2021. PMID: 34397931 Free PMC article.
The purposes of this study are how to improve terminally ill cancer patients' symptoms and signs and how the dedicated palliative care service effects on these improvements.From January 2017 to March 2019, among 919 terminally ill cancer patients admitted to the palliative care u …
The purposes of this study are how to improve terminally ill cancer patients' symptoms and signs and how the dedicated palliative care servi …
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.
Coppola A, Krithika S, Iacomino M, Bobbili D, Balestrini S, Bagnasco I, Bilo L, Buti D, Casellato S, Cuccurullo C, Ferlazzo E, Leu C, Giordano L, Gobbi G, Hernandez-Hernandez L, Lench N, Martins H, Meletti S, Messana T, Nigro V, Pinelli M, Pippucci T, Bellampalli R, Salis B, Sofia V, Striano P, Striano S, Tassi L, Vignoli A, Vaudano AE, Viri M, Scheffer IE, May P, Zara F, Sisodiya SM. Coppola A, et al. Epilepsia. 2024 Mar;65(3):779-791. doi: 10.1111/epi.17859. Epub 2023 Dec 23. Epilepsia. 2024. PMID: 38088023 Free article.
Based on the specific clinical features, age at onset, and familial occurrence, a genetic cause has been postulated. Pathogenic variants in CHD2, SYNGAP1, NEXMIF, RORB, and GABRA1 have been reported in individuals with photosensitivity and eyelid myoclonia, but whether oth …
Based on the specific clinical features, age at onset, and familial occurrence, a genetic cause has been postulated. Pathogenic varia …
Hereditary chorea - what else to consider when the Huntington's disease genetics test is negative?
Malek N, Newman EJ. Malek N, et al. Acta Neurol Scand. 2017 Jan;135(1):25-33. doi: 10.1111/ane.12609. Epub 2016 May 6. Acta Neurol Scand. 2017. PMID: 27150574 Review.
Whilst HD may be the most common aetiology of such a presentation, several HD phenocopies should be considered if genetic testing for HD is negative. We searched PubMed and the Cochrane Database from January 1, 1946 up to January 1, 2016, combining the search terms: …
Whilst HD may be the most common aetiology of such a presentation, several HD phenocopies should be considered if genetic testing for HD is …
Autoimmune dementia and encephalopathy.
Flanagan EP, Drubach DA, Boeve BF. Flanagan EP, et al. Handb Clin Neurol. 2016;133:247-67. doi: 10.1016/B978-0-444-63432-0.00014-1. Handb Clin Neurol. 2016. PMID: 27112681
It may occur as a paraneoplastic phenomenon or an idiopathic autoimmune phenomenon. The presence of a personal/family history of autoimmunity, inflammatory spinal fluid, serologic evidence of autoimmunity (neural or nonorgan-specific), or mesial temporal magnetic resonance …
It may occur as a paraneoplastic phenomenon or an idiopathic autoimmune phenomenon. The presence of a personal/family history of auto …
110 results