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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1976 1
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1986 3
1987 2
1988 1
1989 1
1990 1
1991 6
1992 1
1993 2
1994 2
1995 1
1997 1
1998 5
1999 5
2000 4
2001 1
2002 5
2003 2
2004 3
2005 6
2006 7
2007 9
2008 10
2009 6
2010 5
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2012 5
2013 5
2014 9
2015 4
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2023 7
2024 6

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196 results

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Quoted phrase not found in phrase index: "Epilepsy, familial adult myoclonic, 4"
Page 1
Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial.
Lagae L, Sullivan J, Knupp K, Laux L, Polster T, Nikanorova M, Devinsky O, Cross JH, Guerrini R, Talwar D, Miller I, Farfel G, Galer BS, Gammaitoni A, Mistry A, Morrison G, Lock M, Agarwal A, Lai WW, Ceulemans B; FAiRE DS Study Group. Lagae L, et al. Lancet. 2019 Dec 21;394(10216):2243-2254. doi: 10.1016/S0140-6736(19)32500-0. Epub 2019 Dec 17. Lancet. 2019. PMID: 31862249 Clinical Trial.
Fenfluramine has been reported to have antiseizure activity in observational studies of photosensitive epilepsy and Dravet syndrome. ...METHODS: In this randomised, double-blind, placebo-controlled clinical trial, we enrolled children and young adults with Dr …
Fenfluramine has been reported to have antiseizure activity in observational studies of photosensitive epilepsy and Dravet syn …
Topiramate monotherapy for juvenile myoclonic epilepsy.
Liu J, Wang LN, Wang YP. Liu J, et al. Cochrane Database Syst Rev. 2017 Apr 23;4(4):CD010008. doi: 10.1002/14651858.CD010008.pub3. Cochrane Database Syst Rev. 2017. PMID: 28434203 Free PMC article. Updated. Review.
Some studies have shown the benefits of topiramate monotherapy in the treatment of juvenile myoclonic epilepsy (JME). However, there are no current systematic reviews to determine the efficacy and tolerability of topiramate monotherapy in people with JME. ...Moreove …
Some studies have shown the benefits of topiramate monotherapy in the treatment of juvenile myoclonic epilepsy (JME). However, …
Trait impulsivity in Juvenile Myoclonic Epilepsy.
Shakeshaft A, Panjwani N, McDowall R, Crudgington H, Peña Ceballos J, Andrade DM, Beier CP, Fong CY, Gesche J, Greenberg DA, Hamandi K, Koht J, Lim KS, Orsini A, Rees MI, Rubboli G, Selmer KK, Smith AB, Striano P, Syvertsen M, Talvik I, Thomas RH, Zarubova J, Richardson MP, Strug LJ, Pal DK; BIOJUME Consortium. Shakeshaft A, et al. Ann Clin Transl Neurol. 2021 Jan;8(1):138-152. doi: 10.1002/acn3.51255. Epub 2020 Dec 2. Ann Clin Transl Neurol. 2021. PMID: 33264519 Free PMC article.
Meta-analysis demonstrates an association between response impulsivity and Juvenile Myoclonic Epilepsy (JME), a common genetic generalized epilepsy. Here, we test the hypotheses that trait impulsivity is (i) elevated in JME compared to controls; (ii) moderate …
Meta-analysis demonstrates an association between response impulsivity and Juvenile Myoclonic Epilepsy (JME), a common genetic …
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M Jr, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, Lesca G. Gokce-Samar Z, et al. Neurology. 2024 Jan 23;102(2):e207945. doi: 10.1212/WNL.0000000000207945. Epub 2023 Dec 22. Neurology. 2024. PMID: 38165337
BACKGROUND AND OBJECTIVES: Heterozygous variants in RAR-related orphan receptor B (RORB) have recently been associated with susceptibility to idiopathic generalized epilepsy. However, few reports have been published so far describing pathogenic variants of this gene in pat …
BACKGROUND AND OBJECTIVES: Heterozygous variants in RAR-related orphan receptor B (RORB) have recently been associated with susceptibility t …
Aberrant visual-related networks in familial cortical myoclonic tremor with epilepsy.
Wang H, Wang B, Cen Z, Wang J, Zang YF, Yang D, Ding Y, Wang S, Wu S, Luo W. Wang H, et al. Parkinsonism Relat Disord. 2022 Aug;101:105-110. doi: 10.1016/j.parkreldis.2022.07.001. Epub 2022 Jul 19. Parkinsonism Relat Disord. 2022. PMID: 35870251
INTRODUCTION: In familial cortical myoclonic tremor with epilepsy, photic stimulation can trigger visual symptoms and induce a photoparoxysmal response, or photosensitivity, on electroencephalography. ...CONCLUSION: These findings provide strong evidence for …
INTRODUCTION: In familial cortical myoclonic tremor with epilepsy, photic stimulation can trigger visual symptoms and i …
Perampanel for the treatment of people with idiopathic generalized epilepsy in clinical practice.
Trinka E, Alsaadi T, Goji H, Maehara T, Takahashi S, Jacobs J, Renna R, Gil-López FJ, McMurray R, Sáinz-Fuertes R, Villanueva V. Trinka E, et al. Epilepsia. 2023 Aug;64(8):2094-2107. doi: 10.1111/epi.17631. Epub 2023 Jun 4. Epilepsia. 2023. PMID: 37114853 Clinical Trial.
Time points for retention and effectiveness measurements were 3, 6, and 12 months (last observation carried forward, defined as "last visit," was also applied to effectiveness). ...RESULTS: The Full Analysis Set included 544 people with IGE (51.9% women, mean age = 33.3 ye …
Time points for retention and effectiveness measurements were 3, 6, and 12 months (last observation carried forward, defined as "last …
The molecular and phenotypic spectrum of CLCN4-related epilepsy.
He H, Guzman RE, Cao D, Sierra-Marquez J, Yin F, Fahlke C, Peng J, Stauber T. He H, et al. Epilepsia. 2021 Jun;62(6):1401-1415. doi: 10.1111/epi.16906. Epub 2021 May 5. Epilepsia. 2021. PMID: 33951195
Myoclonic seizures are the most common seizure type, and 56.25% of patients presented multiple seizure types. ...All evaluated CLCN4 variants resulted in loss of function with reduced ClC-4 currents. Nonetheless, genotype-phenotype relationships for CLCN4-related …
Myoclonic seizures are the most common seizure type, and 56.25% of patients presented multiple seizure types. ...All evaluated CLCN4 …
Development and Validation of MRI-Based Radiomics Models for Diagnosing Juvenile Myoclonic Epilepsy.
Kim KM, Hwang H, Sohn B, Park K, Han K, Ahn SS, Lee W, Chu MK, Heo K, Lee SK. Kim KM, et al. Korean J Radiol. 2022 Dec;23(12):1281-1289. doi: 10.3348/kjr.2022.0539. Korean J Radiol. 2022. PMID: 36447416 Free PMC article.
OBJECTIVE: Radiomic modeling using multiple regions of interest in MRI of the brain to diagnose juvenile myoclonic epilepsy (JME) has not yet been investigated. This study aimed to develop and validate radiomics prediction models to distinguish patients with …
OBJECTIVE: Radiomic modeling using multiple regions of interest in MRI of the brain to diagnose juvenile myoclonic epilepsy (J …
Impulsivity traits in eyelid myoclonia with absences.
Luca A, Giuliano L, Manna R, D'Agate C, Maira G, Sofia V, Nicoletti A, Zappia M. Luca A, et al. Seizure. 2021 Oct;91:393-396. doi: 10.1016/j.seizure.2021.07.006. Epub 2021 Jul 16. Seizure. 2021. PMID: 34298458 Free article.
PURPOSE: Eyelid myoclonia with absences (EMA) shares some clinical characteristics with juvenile myoclonic epilepsy (JME), in which impulsivity traits have been described. ...RESULTS: Seventeen patients with EMA (12 females [70.6%], age 30.810 years), 29 patients wi …
PURPOSE: Eyelid myoclonia with absences (EMA) shares some clinical characteristics with juvenile myoclonic epilepsy (JME), in …
Headache in idiopathic/genetic epilepsy: Cluster analysis in a large cohort.
Atalar AÇ, Türk BG, Ekizoglu E, Kurt Gök D, Baykan B, Özge A, Ayta S, Erdoğan FF, Yeni SN, Taşdelen B, Velioglu SK, Yapıcı Z, Midi İ, Saygı S, Çelebi U, Sarıca Darol E, Ağan K, Ayça S, Gazioğlu S, Okudan ZV, Şirin NG, Bebek N, Dericioğlu N, Güçlü Altun İ, Yalçın AD, Sürmeli R, Erdinç OO, Erdal A, İlhan Algın D, Kutlu G, Bek S, Erdal Y, Özön AÖ, Reyhani A, Güldiken B, Baklan B, Genç BO, Aykutlu Altındağ E, Karahan G, Koç G, Mısırlı H, Öztura İ, Aslan-Kara K, Çakar MM, Türkmen N, Bulut O, Karadaş Ö, Kesim Şahin Ö, Ferik S, Peköz MT, Topaloğlu P, Üstün Özek S, Düzgün Ü, Yayla V, Gömceli Y, Ünlüsoy Acar Z. Atalar AÇ, et al. Epilepsia. 2022 Jun;63(6):1516-1529. doi: 10.1111/epi.17205. Epub 2022 Apr 6. Epilepsia. 2022. PMID: 35188224
OBJECTIVE: The link between headache and epilepsy is more prominent in patients with idiopathic/genetic epilepsy (I/GE). ...In adults, subjects having a family history of headache, 5 headache attacks, duration of headache 24 months, headaches lasting 1 h, and …
OBJECTIVE: The link between headache and epilepsy is more prominent in patients with idiopathic/genetic epilepsy (I/GE). ...In …
196 results