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Unverricht-Lundborg disease.
Crespel A, Ferlazzo E, Franceschetti S, Genton P, Gouider R, Kälviäinen R, Korja M, Lehtinen MK, Mervaala E, Simonato M, Vaarmann A. Crespel A, et al. Epileptic Disord. 2016 Sep 1;18(S2):28-37. doi: 10.1684/epd.2016.0841. Epileptic Disord. 2016. PMID: 27582036 Review.
We first review the clinical presentation and current therapeutic approaches available for treating Unverricht-Lundborg disease (ULD), a progressive myoclonus epilepsy. Next, we describe the identification of disease causing mutations in the gene encoding cys …
We first review the clinical presentation and current therapeutic approaches available for treating Unverricht-Lundborg dis …
Major intra-familial variability in Unverricht-Lundborg disease.
Nasri A, Zidi S, Kacem I, Mrabet S, Ben Djebara M, Gargouri A, Leguern E, Gouider R. Nasri A, et al. Epileptic Disord. 2022 Feb 1;24(1):163-170. doi: 10.1684/epd.2021.1372. Epileptic Disord. 2022. PMID: 34787084
Unverricht-Lundborg disease (ULD), also called progressive myoclonic epilepsy type 1, is usually characterized by the presence of ataxia associated with myoclonus and epileptic seizures without progressive cognitive deficit, presenting during late childhood a …
Unverricht-Lundborg disease (ULD), also called progressive myoclonic epilepsy type 1, is usually characterized by the p …
Variable course of Unverricht-Lundborg disease: Early prognostic factors.
Canafoglia L, Ferlazzo E, Michelucci R, Striano P, Magaudda A, Gambardella A, Pasini E, Belcastro V, Riguzzi P, Fanella M, Granata T, Beccaria F, Trentini C, Bianchi A, Aguglia U, Panzica F, Franceschetti S. Canafoglia L, et al. Neurology. 2017 Oct 17;89(16):1691-1697. doi: 10.1212/WNL.0000000000004518. Epub 2017 Sep 20. Neurology. 2017. PMID: 28931642
OBJECTIVE: To explore the course of Unverricht-Lundborg disease (EPM1) and identify the risk factors for severity, we investigated the time course of symptoms and prognostic factors already detectable near to disease onset. ...
OBJECTIVE: To explore the course of Unverricht-Lundborg disease (EPM1) and identify the risk factors for severity, we i …
Insights into the Genetic Profile of Two Siblings Affected by Unverricht-Lundborg Disease Using Patient-Derived hiPSCs.
Lucchino V, Scaramuzzino L, Scalise S, Lo Conte M, Zannino C, Benedetto GL, Aguglia U, Ferlazzo E, Cuda G, Parrotta EI. Lucchino V, et al. Cells. 2022 Nov 4;11(21):3491. doi: 10.3390/cells11213491. Cells. 2022. PMID: 36359887 Free PMC article.
Unverricht-Lundborg disease (ULD), also known as progressive myoclonic epilepsy 1 (EPM1), is a rare autosomal recessive neurodegenerative disorder characterized by a complex symptomatology that includes action- and stimulus-sensitive myoclonus and tonic-cloni …
Unverricht-Lundborg disease (ULD), also known as progressive myoclonic epilepsy 1 (EPM1), is a rare autosomal recessive …
Negative myoclonus causes locomotory disability in progressive myoclonus epilepsy type EPM1- Unverricht-Lundborg disease.
Vogt H, Baisch T, Mueller-Pfeiffer C, Mothersill IW. Vogt H, et al. Epileptic Disord. 2023 Jun;25(3):297-308. doi: 10.1002/epd2.20017. Epub 2023 May 22. Epileptic Disord. 2023. PMID: 37536959
OBJECTIVE: Patients with Unverricht-Lundborg disease/EPM1 develop increasing locomotory disability or ataxia in the course of their disease. ...
OBJECTIVE: Patients with Unverricht-Lundborg disease/EPM1 develop increasing locomotory disability or ataxia in the cou …
Juvenile myoclonic epilepsy phenotype in a family with Unverricht-Lundborg disease.
Berrechid AG, Bendjebara M, Bouteiller D, Nasri A, Peuvion JN, Marie Y, Baulac S, Mrabet S, Ribierre T, Cazeneuve C, Imenkacem, Leguern E, Gouider R. Berrechid AG, et al. Epileptic Disord. 2019 Aug 1;21(4):359-365. doi: 10.1684/epd.2019.1078. Epileptic Disord. 2019. PMID: 31368437
Unverricht-Lundborg disease (ULD), an autosomal recessive progressive myoclonus epilepsy, is due to an expansion, or less commonly a mutation, of the cystatin B (CSTB) gene. ...
Unverricht-Lundborg disease (ULD), an autosomal recessive progressive myoclonus epilepsy, is due to an expansion, or le …
Comorbidities in patients with Unverricht-Lundborg disease (EPM1).
Sipilä JOT, Kälviäinen R. Sipilä JOT, et al. Acta Neurol Scand. 2022 Nov;146(5):690-693. doi: 10.1111/ane.13706. Epub 2022 Sep 13. Acta Neurol Scand. 2022. PMID: 36097839 Free PMC article.
BACKGROUND: Unverricht-Lundborg disease (EPM1) typically leads to accumulating disability. Disability may also be caused by comorbidities but there are no data available on these. ...
BACKGROUND: Unverricht-Lundborg disease (EPM1) typically leads to accumulating disability. Disability may also be cause …
A novel c132-134del mutation in Unverricht-Lundborg disease and the review of literature of heterozygous compound patients.
Assenza G, Benvenga A, Gennaro E, Tombini M, Campana C, Assenza F, Di Pino G, Di Lazzaro V. Assenza G, et al. Epilepsia. 2017 Feb;58(2):e31-e35. doi: 10.1111/epi.13626. Epub 2016 Nov 26. Epilepsia. 2017. PMID: 27888502 Review.
Unverricht-Lundborg disease or progressive myoclonic epilepsy type 1 (EPM1) is an autosomal recessive disease caused by mutation of the cystatin B gene (CSTB), located on chromosome 21q22.3. ...
Unverricht-Lundborg disease or progressive myoclonic epilepsy type 1 (EPM1) is an autosomal recessive disease caused by …
Unverricht-Lundborg disease (EPM1) in Finland: A nationwide population-based study.
Sipilä JOT, Hyppönen J, Kytö V, Kälviäinen R. Sipilä JOT, et al. Neurology. 2020 Dec 8;95(23):e3117-e3123. doi: 10.1212/WNL.0000000000010911. Epub 2020 Sep 17. Neurology. 2020. PMID: 32943486 Free PMC article.
OBJECTIVE: To investigate the epidemiology and prognosis of Unverricht-Lundborg disease (EPM1) in a nationwide, population-based setting. METHODS: Data from multiple registries were combined and analyzed. ...In approximately 10% of all cases, the disease prog …
OBJECTIVE: To investigate the epidemiology and prognosis of Unverricht-Lundborg disease (EPM1) in a nationwide, populat …
Perampanel in 12 patients with Unverricht-Lundborg disease.
Crespel A, Gelisse P, Tang NP, Genton P. Crespel A, et al. Epilepsia. 2017 Apr;58(4):543-547. doi: 10.1111/epi.13662. Epub 2017 Feb 6. Epilepsia. 2017. PMID: 28166365
OBJECTIVE: Perampanel (PER) was used in 12 patients with Unverricht-Lundborg disease (ULD) to evaluate its efficacy against myoclonus and seizures. ...
OBJECTIVE: Perampanel (PER) was used in 12 patients with Unverricht-Lundborg disease (ULD) to evaluate its efficacy aga …
35 results