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2001 1
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2005 4
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2015 4
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2019 3
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35 results

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Page 1
Neurophysiology of Juvenile and Progressive Myoclonic Epilepsy.
Acharya JN, Acharya VJ. Acharya JN, et al. J Clin Neurophysiol. 2023 Feb 1;40(2):100-108. doi: 10.1097/WNP.0000000000000913. Epub 2022 Jun 30. J Clin Neurophysiol. 2023. PMID: 36735458
EEG shows generalized epileptiform discharges and photosensitivity. Recent observations indicate that the clinical picture of JME is heterogeneous and a number of neuropsychological and imaging studies have shown structural and functional abnormalities in the frontal lobes …
EEG shows generalized epileptiform discharges and photosensitivity. Recent observations indicate that the clinical picture of JME is …
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.
RESULTS: Mean follow-up time was 31.4 years (SD 12.4 years, range 6.8-57.8 years), during which at least one comorbidity was observed in 107 patients (79%) and three or more in 53 (39%). The most common diagnostic categories were external injuries, mental and behavioural d …
RESULTS: Mean follow-up time was 31.4 years (SD 12.4 years, range 6.8-57.8 years), during which at least one comorbidity was observed …
Unverricht-Lundborg disease: Clinical course and seizure management based on the experience of polish centers.
Lasek-Bal A, Lukasik M, Żak A, Sulek A, Bosak M. Lasek-Bal A, et al. Seizure. 2019 Jul;69:87-91. doi: 10.1016/j.seizure.2019.04.008. Epub 2019 Apr 10. Seizure. 2019. PMID: 30999254 Free article.
The most frequent early manifestations of ULD include generalized tonic-clonic seizures (GTCS) accompanied by myoclonus 2 years later. Myoclonus was observed in all of the patients; its severity made it impossible for 91% to move independently. In two patients- mild atroph …
The most frequent early manifestations of ULD include generalized tonic-clonic seizures (GTCS) accompanied by myoclonus 2 years later. Myocl …
Alterations of motor cortical excitability and anatomy in Unverricht-Lundborg disease.
Danner N, Julkunen P, Hyppönen J, Niskanen E, Säisänen L, Könönen M, Koskenkorva P, Vanninen R, Kälviäinen R, Mervaala E. Danner N, et al. Mov Disord. 2013 Nov;28(13):1860-7. doi: 10.1002/mds.25615. Epub 2013 Aug 7. Mov Disord. 2013. PMID: 23925991

The motor thresholds, cortical electric fields, and silent periods were significantly increased in the patients (P < 0.01). The silent periods correlated with the myoclonus scores (r = 0.48 to r = 0.49, P < 0.001). The scalp-to-cortex distance increased significantly

…

The motor thresholds, cortical electric fields, and silent periods were significantly increased in the patients (P < 0.01). The silent pe

…
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
Weight gain was reported in six patients (50%). Psychological and behavioral side-effects were observed in six patients (50%) and led to withdrawal of PER in three cases and dose reduction in three, with abatement of the problems. ...
Weight gain was reported in six patients (50%). Psychological and behavioral side-effects were observed in six patients (50%) and led …
Death in Unverricht-Lundborg disease.
Khiari HM, Franceschetti S, Jovic N, Mrabet A, Genton P. Khiari HM, et al. Neurol Sci. 2009 Aug;30(4):315-8. doi: 10.1007/s10072-009-0102-2. Epub 2009 Jun 5. Neurol Sci. 2009. PMID: 19499178
We assessed age, sex, severity and duration of disease, antiepileptic drugs, circumstances and presumed cause of death. Nineteen observations (12 females, 7 males) were collected from four centers (Tunis, Marseille, Milan, Belgrade). ...
We assessed age, sex, severity and duration of disease, antiepileptic drugs, circumstances and presumed cause of death. Nineteen observat …
Sensorimotor, visual, and auditory cortical atrophy in Unverricht-Lundborg disease mapped with cortical thickness analysis.
Koskenkorva P, Niskanen E, Hyppönen J, Könönen M, Mervaala E, Soininen H, Kälviäinen R, Vanninen R. Koskenkorva P, et al. AJNR Am J Neuroradiol. 2012 May;33(5):878-83. doi: 10.3174/ajnr.A2882. Epub 2012 Jan 19. AJNR Am J Neuroradiol. 2012. PMID: 22268086 Free PMC article.
The clinical severity of the disease varies considerably among patients, but so far, no correlations have been observed between quantitative structural changes in the brain and clinical parameters such as duration of the disease, age at onset, or myoclonus severity. ...The …
The clinical severity of the disease varies considerably among patients, but so far, no correlations have been observed between quant …
A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping.
Berkovic SF, Mazarib A, Walid S, Neufeld MY, Manelis J, Nevo Y, Korczyn AD, Yin J, Xiong L, Pandolfo M, Mulley JC, Wallace RH. Berkovic SF, et al. Brain. 2005 Mar;128(Pt 3):652-8. doi: 10.1093/brain/awh377. Epub 2005 Jan 5. Brain. 2005. PMID: 15634728
We mapped the family to a 15-megabase region at the pericentromeric region of chromosome 12 with a maximum lod score of 6.32. Although the phenotype of individual subjects was typical of ULD, the mean age of onset (7.3 years versus 11 years for ULD) was younger. ...
We mapped the family to a 15-megabase region at the pericentromeric region of chromosome 12 with a maximum lod score of 6.32. Althoug …
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
CONCLUSIONS: A younger age at onset, early severe myoclonus, and seizure persistence are predictors of a more severe outcome. All of these factors may be genetically determined, but the greater hyperexcitability underlying more severe seizures and myoclonus at onset may al …
CONCLUSIONS: A younger age at onset, early severe myoclonus, and seizure persistence are predictors of a more severe outcome. All of …
Refining the phenotype of Unverricht-Lundborg disease (EPM1): a population-wide Finnish study.
Hyppönen J, Äikiä M, Joensuu T, Julkunen P, Danner N, Koskenkorva P, Vanninen R, Lehesjoki AE, Mervaala E, Kälviäinen R. Hyppönen J, et al. Neurology. 2015 Apr 14;84(15):1529-36. doi: 10.1212/WNL.0000000000001466. Epub 2015 Mar 13. Neurology. 2015. PMID: 25770194
OBJECTIVE: This Finnish nationwide study aimed to refine the clinical phenotype variability and to identify factors that could explain the extensive variability in the clinical severity of the symptoms observed among patients with Unverricht-Lundborg disease (progressive m …
OBJECTIVE: This Finnish nationwide study aimed to refine the clinical phenotype variability and to identify factors that could explain the e …
35 results