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Quoted phrase not found in phrase index: "Progressive myoclonic epilepsy type 9"
Page 1
KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
Yoganathan S, Whitney R, Thomas M, Danda S, Chettali AM, Prasad AN, Farhan SMK, AlSowat D, Abukhaled M, Aldhalaan H, Gowda VK, Kinhal UV, Bylappa AY, Konanki R, Lingappa L, Parchuri BM, Appendino JP, Scantlebury MH, Cunningham J, Hadjinicolaou A, El Achkar CM, Kamate M, Menon RN, Jose M, Riordan G, Kannan L, Jain V, Manokaran RK, Chau V, Donner EJ, Costain G, Minassian BA, Jain P. Yoganathan S, et al. Epilepsia. 2024 Mar;65(3):709-724. doi: 10.1111/epi.17880. Epub 2024 Jan 17. Epilepsia. 2024. PMID: 38231304
OBJECTIVE: KCTD7-related progressive myoclonic epilepsy (PME) is a rare autosomal-recessive disorder. ...The median age at first seizure was 14 months (interquartile range = 11.75-22.5). Myoclonic seizures were frequently the first seizure type …
OBJECTIVE: KCTD7-related progressive myoclonic epilepsy (PME) is a rare autosomal-recessive disorder. ...The median age …
Progressive myoclonic epilepsy type 1 (EPM1) patients present with abnormal (1)H MRS brain metabolic profiles associated with cognitive function.
Hyppönen J, Paanila V, Äikiä M, Koskenkorva P, Könönen M, Vanninen R, Mervaala E, Kälviäinen R, Hakumäki J. Hyppönen J, et al. Neuroimage Clin. 2023;39:103459. doi: 10.1016/j.nicl.2023.103459. Epub 2023 Jul 3. Neuroimage Clin. 2023. PMID: 37541097 Free PMC article.
PURPOSE: Progressive myoclonic epilepsy, type 1A (EPM1, Unverricht-Lundborg disease), is a rare neurodegenerative autosomal recessive disorder characterized by stimulus-sensitive and action myoclonus and tonic-clonic epileptic seizures. ...The effects …
PURPOSE: Progressive myoclonic epilepsy, type 1A (EPM1, Unverricht-Lundborg disease), is a rare neurodegenerativ …
Clinical and molecular characterization of Unverricht-Lundborg disease among Egyptian patients.
Hosny H, El Tamawy M, Gouider R, Lesca G, Abdel Naseer M, Kishk N, Abdel-Hamid MS, Ashmawi A. Hosny H, et al. Epilepsy Res. 2021 Oct;176:106746. doi: 10.1016/j.eplepsyres.2021.106746. Epub 2021 Aug 25. Epilepsy Res. 2021. PMID: 34474241
BACKGROUND AND PURPOSE: Unverricht-Lundborg disease (ULD) is a common type of progressive myoclonic epilepsy (PME). It is caused mostly by biallelic dodecamer repeat expansions in the promoter region of CSTB gene. ...Myoclonic jerks ranged in se …
BACKGROUND AND PURPOSE: Unverricht-Lundborg disease (ULD) is a common type of progressive myoclonic epilepsy (PM …
Progressive volume loss and white matter degeneration in cstb-deficient mice: a diffusion tensor and longitudinal volumetry MRI study.
Manninen O, Laitinen T, Lehtimäki KK, Tegelberg S, Lehesjoki AE, Gröhn O, Kopra O. Manninen O, et al. PLoS One. 2014 Mar 6;9(6):e90709. doi: 10.1371/journal.pone.0090709. eCollection 2014. PLoS One. 2014. PMID: 24603771 Free PMC article.
Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1, OMIM 254800) is an autosomal recessive disorder characterized by onset at the age of 6 to 16 years, incapacitating stimulus-sensitive myoclonus and tonic-clonic epileptic seizures. ...The diffusio …
Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1, OMIM 254800) is an autosomal recessive disorder characte …
Late-onset childhood neuronal ceroid lipofuscinosis: Early clinical and electroencephalographic markers.
Beltrán L, Valenzuela GR, Loos M, Vargas R, Lizama R, Spinsanti P, Caraballo R. Beltrán L, et al. Epilepsy Res. 2018 Aug;144:49-52. doi: 10.1016/j.eplepsyres.2018.05.005. Epub 2018 May 16. Epilepsy Res. 2018. PMID: 29778029
The most common seizure types in G1 patients were myoclonic in 3/7, generalized tonic-clonic in 2/7, focal motor in 1/7, and febrile seizures in 1/7; in G2 patients they were myoclonic in 5/12, generalized tonic-clonic in 3/12, myoclonic-atonic in 2/12, and f …
The most common seizure types in G1 patients were myoclonic in 3/7, generalized tonic-clonic in 2/7, focal motor in 1/7, and febrile …
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Berkovic SF, Oliver KL, Canafoglia L, Krieger P, Damiano JA, Hildebrand MS, Morbin M, Vears DF, Sofia V, Giuliano L, Garavaglia B, Simonati A, Santorelli FM, Gambardella A, Labate A, Belcastro V, Castellotti B, Ozkara C, Zeman A, Rankin J, Mole SE, Aguglia U, Farrell M, Rajagopalan S, McDougall A, Brammah S, Andermann F, Andermann E, Dahl HM, Franceschetti S, Carpenter S. Berkovic SF, et al. Brain. 2019 Jan 1;142(1):59-69. doi: 10.1093/brain/awy297. Brain. 2019. PMID: 30561534
Mean age of onset was 28 years (range 12-51) with bimodal peaks in teenage and early adult life. The typical presentation was of progressive myoclonus epilepsy with debilitating myoclonic seizures and relatively infrequent tonic-clonic seizures. ...There was …
Mean age of onset was 28 years (range 12-51) with bimodal peaks in teenage and early adult life. The typical presentation was of progress …
Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis.
Pondrelli F, Muccioli L, Licchetta L, Mostacci B, Zenesini C, Tinuper P, Vignatelli L, Bisulli F. Pondrelli F, et al. Orphanet J Rare Dis. 2021 Aug 16;16(1):362. doi: 10.1186/s13023-021-01989-w. Orphanet J Rare Dis. 2021. PMID: 34399803 Free PMC article.
BACKGROUND: Lafora disease (LD) is a rare fatal autosomal recessive form of progressive myoclonus epilepsy. It affects previously healthy children or adolescents, causing pharmacoresistant epilepsy, myoclonus and severe psychomotor deterioration. ...Asian ori …
BACKGROUND: Lafora disease (LD) is a rare fatal autosomal recessive form of progressive myoclonus epilepsy. It affects previou …
Rapid detection of large expansions in progressive myoclonus epilepsy type 1, myotonic dystrophy type 2 and spinocerebellar ataxia type 8.
Krysa W, Rajkiewicz M, Sułek A. Krysa W, et al. Neurol Neurochir Pol. 2012 Mar-Apr;46(2):113-20. doi: 10.5114/ninp.2012.28253. Neurol Neurochir Pol. 2012. PMID: 22581592
BACKGROUND AND PURPOSE: Human genetic disorders associated with multiple unstable repeats resulting in long DNA expansions are difficult to identify by conventional polymerase chain reaction (PCR) in routine molecular testing, and therefore require time-consuming hybridisation. T …
BACKGROUND AND PURPOSE: Human genetic disorders associated with multiple unstable repeats resulting in long DNA expansions are difficult to …
C9ORF72 expansion does not affect the phenotype in Nasu-Hakola disease with the DAP12 mutation.
Solje E, Hartikainen P, Valori M, Vanninen R, Tiihonen J, Hakola P, Tienari PJ, Remes AM. Solje E, et al. Neurobiol Aging. 2014 Jul;35(7):1780.e13-7. doi: 10.1016/j.neurobiolaging.2014.01.149. Epub 2014 Feb 5. Neurobiol Aging. 2014. PMID: 24612676
Frontotemporal lobar degeneration (FTLD) is a neuropathologically and genetically heterogeneous neurodegenerative disease. A hexanucleotide repeat expansion in the chromosome 9-associated open reading frame 72 (C9ORF72) gene is the most common cause of familial FTLD in Fin …
Frontotemporal lobar degeneration (FTLD) is a neuropathologically and genetically heterogeneous neurodegenerative disease. A hexanucleotide …
Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L).
Filocamo M, Mazzotti R, Stroppiano M, Grossi S, Dravet C, Guerrini R. Filocamo M, et al. Epilepsia. 2004 Sep;45(9):1154-7. doi: 10.1111/j.0013-9580.2004.15904.x. Epilepsia. 2004. PMID: 15329082 Free article.
RESULTS: Subsequent progressive myoclonus and generalized seizures were consistent with an adolescent-onset form of progressive myoclonus epilepsy. ...Early differential diagnosis from other forms of progressive myoclonus epilepsy with similar c …
RESULTS: Subsequent progressive myoclonus and generalized seizures were consistent with an adolescent-onset form of progressive …
17 results