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Quoted phrase not found in phrase index: "Progressive myoclonic epilepsy type 8"
Page 1
A systematic review of the efficacy of perampanel as treatment for myoclonic seizures and symptomatic myoclonus.
Mir A, Alghamdi A, Alotaibi W, Samreen D, Alotaibi M, Albaradie R, Bashir S. Mir A, et al. Epileptic Disord. 2022 Aug 1;24(4):633-646. doi: 10.1684/epd.2022.1439. Epileptic Disord. 2022. PMID: 35770766 Review. English.
Epileptic myoclonus or myoclonic seizures can occur in idiopathic generalized epilepsy (IGE) and progressive myoclonus epilepsy (PME). ...We also analysed the number of patients who were already on levetiracetam (LEV) or valproic acid (VPA) at the time …
Epileptic myoclonus or myoclonic seizures can occur in idiopathic generalized epilepsy (IGE) and progressive myoclonus …
Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.
Ferranti S, Lo Rizzo C, Renieri A, Galluzzi P, Grosso S. Ferranti S, et al. Neurol Sci. 2020 Nov;41(11):3345-3348. doi: 10.1007/s10072-020-04418-1. Epub 2020 May 21. Neurol Sci. 2020. PMID: 32440981
Nonprogressive mental retardation, dystonia, ataxia, and pyramidal signs are commonly present, whereas epilepsy has only occasionally been observed. CASE REPORT: We report the case of two sisters, 11 and 18 years old respectively, with an overlapping clinical phenot …
Nonprogressive mental retardation, dystonia, ataxia, and pyramidal signs are commonly present, whereas epilepsy has only occasionally …
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.
Rus CM, Weissensteiner T, Pereira C, Susnea I, Danquah BD, Morales Torres G, Rocha ME, Cozma C, Saravanakumar D, Mannepalli S, Kandaswamy KK, Di Bucchianico S, Zimmermann R, Rolfs A, Bauer P, Beetz C. Rus CM, et al. Orphanet J Rare Dis. 2022 May 3;17(1):179. doi: 10.1186/s13023-022-02288-8. Orphanet J Rare Dis. 2022. PMID: 35505348 Free PMC article.
They comprised 86 late-infantile, eight juvenile, and three adult-onset cases (two patients with Kufs disease type A, and one with teenage progressive myoclonic epilepsy). The male to female ratio was 1.06: 1.00. ...The time from disease onset to refer …
They comprised 86 late-infantile, eight juvenile, and three adult-onset cases (two patients with Kufs disease type A, and one with te …
Progressive myoclonus epilepsy in Down syndrome patients with dementia.
d'Orsi G, Specchio LM; Apulian Study Group on Senile Myoclonic Epilepsy. d'Orsi G, et al. J Neurol. 2014 Aug;261(8):1584-97. doi: 10.1007/s00415-014-7376-x. Epub 2014 Jun 4. J Neurol. 2014. PMID: 24893590
This study aimed to elucidate the natural history of senile myoclonic epilepsy, a type of myoclonic epilepsy associated with Alzheimer's disease in adult Down syndrome patients. ...CSF biomarkers showed a decrease in Abeta42 and an increase in p …
This study aimed to elucidate the natural history of senile myoclonic epilepsy, a type of myoclonic epilepsy …
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
The mean duration of silent periods significantly increased from 100 (SD: 19.1) ms at time point T1 to 128 (SD: 26.6) ms at T2 in seven of eight patients, based on two recordings and a mean interval of 12.8 (SD: 4.9) years. Using a cross-sectional approach, all 15 patients …
The mean duration of silent periods significantly increased from 100 (SD: 19.1) ms at time point T1 to 128 (SD: 26.6) ms at T2 in seven of e …
Exploring the Evidence for Broad-Spectrum Effectiveness of Perampanel: A Systematic Review of Clinical Data in Generalised Seizures.
Trinka E, Lattanzi S, Carpenter K, Corradetti T, Nucera B, Rinaldi F, Shankar R, Brigo F. Trinka E, et al. CNS Drugs. 2021 Aug;35(8):821-837. doi: 10.1007/s40263-021-00831-y. Epub 2021 Jul 7. CNS Drugs. 2021. PMID: 34232492 Free PMC article.
The most commonly reported epilepsy type was IGE (N = 378) and the most common syndromes were juvenile myoclonic epilepsy (N = 92), progressive myoclonic epilepsies (N = 59) and absence epilepsies (N = 43). ...There were no …
The most commonly reported epilepsy type was IGE (N = 378) and the most common syndromes were juvenile myoclonic epi …
The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q.
Serratosa JM, Delgado-Escueta AV, Posada I, Shih S, Drury I, Berciano J, Zabala JA, Antúnez MC, Sparkes RS. Serratosa JM, et al. Hum Mol Genet. 1995 Sep;4(9):1657-63. doi: 10.1093/hmg/4.9.1657. Hum Mol Genet. 1995. PMID: 8541857
Progressive myoclonus epilepsy of the Lafora type (Lafora's disease) is an autosomal recessive disease characterized by epilepsy, myoclonus, dementia, and periodic acid-Schiff-positive intracellular inclusion bodies. ...An extended pedigree with five a …
Progressive myoclonus epilepsy of the Lafora type (Lafora's disease) is an autosomal recessive disease characterized by …
Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review.
Atasu B, Acarlı ANO, Bilgic B, Baykan B, Demir E, Ozluk Y, Turkmen A, Hauser AK, Guven G, Hanagasi H, Gurvit H, Emre M, Gasser T, Lohmann E. Atasu B, et al. BMC Neurol. 2022 Mar 28;22(1):122. doi: 10.1186/s12883-022-02628-y. BMC Neurol. 2022. PMID: 35346091 Free PMC article.
Intrafamilial clinical heterogeneity with common features including dysarthria, tremor and proteinuria, and distinct features such as peripheral neuropathy (PNP), myoclonus and seizures between the affected cases, was observed in the family. In-depth literature review enab …
Intrafamilial clinical heterogeneity with common features including dysarthria, tremor and proteinuria, and distinct features such as periph …
3D texture analysis reveals imperceptible MRI textural alterations in the thalamus and putamen in progressive myoclonic epilepsy type 1, EPM1.
Suoranta S, Holli-Helenius K, Koskenkorva P, Niskanen E, Könönen M, Äikiä M, Eskola H, Kälviäinen R, Vanninen R. Suoranta S, et al. PLoS One. 2013 Jul 29;8(7):e69905. doi: 10.1371/journal.pone.0069905. Print 2013. PLoS One. 2013. PMID: 23922849 Free PMC article.
Progressive myoclonic epilepsy type 1 (EPM1) is an autosomal recessively inherited neurodegenerative disorder characterized by young onset age, myoclonus and tonic-clonic epileptic seizures. ...Textural alterations which suggest complex, coarse and het …
Progressive myoclonic epilepsy type 1 (EPM1) is an autosomal recessively inherited neurodegenerative disorder ch …
Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22.
Lehesjoki AE, Koskiniemi M, Sistonen P, Miao J, Hästbacka J, Norio R, de la Chapelle A. Lehesjoki AE, et al. Proc Natl Acad Sci U S A. 1991 May 1;88(9):3696-9. doi: 10.1073/pnas.88.9.3696. Proc Natl Acad Sci U S A. 1991. PMID: 1673790 Free PMC article.
Progressive myoclonus epilepsy of Univerricht-Lundborg type is a clinically defined entity among the progressive myoclonus epilepsies. ...As markers BCEI and D21S154 have previously been localized to 21q22.3 by physical methods, our findings pla …
Progressive myoclonus epilepsy of Univerricht-Lundborg type is a clinically defined entity among the progressive …
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