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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 …
Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.
Castellotti B, Canafoglia L, Freri E, Tappatà M, Messina G, Magri S, DiFrancesco JC, Fanella M, Di Bonaventura C, Morano A, Granata T, Gellera C, Franceschetti S, Michelucci R. Castellotti B, et al. Epilepsia Open. 2023 Jun;8(2):645-650. doi: 10.1002/epi4.12697. Epub 2023 Feb 9. Epilepsia Open. 2023. PMID: 36719163 Free PMC article.
Variants of SEMA6B have been identified in an increasing number of patients, often presenting with progressive myoclonus epilepsy (PME), and to lesser extent developmental encephalopathy, with or without epilepsy. ...However, the data to date available confir …
Variants of SEMA6B have been identified in an increasing number of patients, often presenting with progressive myoclonus epilepsy …
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. ...Eight patients had their first seiz …
BACKGROUND AND PURPOSE: Unverricht-Lundborg disease (ULD) is a common type of progressive myoclonic epilepsy (PM …
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). ...Data from othe …
The most commonly reported epilepsy type was IGE (N = 378) and the most common syndromes were juvenile myoclonic epi …
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 …
High-frequency component in flash visual evoked potentials in type 3 Gaucher disease.
Oguri M, Saito Y, Okanishi T, Matuura Y, Akiyama S, Ikeguchi T, Narita A, Hirooka Y, Maegaki Y. Oguri M, et al. Brain Dev. 2020 Jan;42(1):19-27. doi: 10.1016/j.braindev.2019.08.005. Epub 2019 Sep 24. Brain Dev. 2020. PMID: 31561936
OBJECTIVE: To characterize the visual evoked potentials (VEP) in patients with type 3 Gaucher disease (GD) with or without progressive myoclonus epilepsy. METHODS: Three young adults with progressive myoclonus epilepsy (type 3a GD) and tw …
OBJECTIVE: To characterize the visual evoked potentials (VEP) in patients with type 3 Gaucher disease (GD) with or without progres …
Epilepsy in children with subacute sclerosing panencephalitis.
Jović NJ. Jović NJ. Srp Arh Celok Lek. 2013 Jul-Aug;141(7-8):434-40. doi: 10.2298/sarh1308434j. Srp Arh Celok Lek. 2013. PMID: 24073547 Free article.
No significant inter-group differences were found relating to the type of SSPE progression and history of epilepsy. The only child with fulminant SSPE presented with initial seizures. ...Epilepsy developed during clinical course in 52.6% cases. No significant …
No significant inter-group differences were found relating to the type of SSPE progression and history of epilepsy. The only c …
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
RESULTS: Mean age at symptom onset was 3 years in G1 and 3.4 years in G2. Symptoms at onset were epilepsy in 58%, language delay in 34%, and gait disturbances in 8% of patients in G1 and epilepsy in 52.1%, language delay in 26%, gait disturbances in 17.4%, an …
RESULTS: Mean age at symptom onset was 3 years in G1 and 3.4 years in G2. Symptoms at onset were epilepsy in 58%, language delay in 3 …
17 results