Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1978 1
1980 1
1981 1
1983 1
1984 1
1986 1
1987 1
1988 1
1989 1
1991 1
1992 1
1993 1
1994 3
1995 3
1996 1
1997 3
1998 4
1999 6
2000 5
2001 1
2002 5
2003 2
2004 2
2005 8
2006 5
2007 7
2008 7
2009 9
2010 5
2011 6
2012 7
2013 9
2014 12
2015 4
2016 8
2017 11
2018 15
2019 10
2020 12
2021 15
2022 11
2023 12
2024 6

Text availability

Article attribute

Article type

Publication date

Search Results

203 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Epilepsy, familial adult myoclonic, 5"
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 …
A registry for Dravet syndrome: The Italian experience.
Balestrini S, Doccini V, Giometto S, Lucenteforte E, De Masi S, Giarola E, Brambilla I, Pieroni F, Perulli M, Battaglia D, Specchio N, Ragona F, Granata T, Pellacani S, Ferrari A, Marini C, Matricardi S, Cesaroni E, Giordano L, Accorsi P, Sciruicchio V, Tinuper P, Messana T, Russo A, Pruna D, Nosadini M, De Giorgis V, Caputo D; Residras Collaboration Group; Pellegrin S, Lo Barco T, Darra F, Dalla Bernardina B, Guerrini R. Balestrini S, et al. Epilepsia Open. 2023 Jun;8(2):517-534. doi: 10.1002/epi4.12730. Epub 2023 Mar 30. Epilepsia Open. 2023. PMID: 36938796 Free PMC article.

When analyzing clinical changes over the first 5-year follow-up, we observed a significant difference in cognitive function (P < 0.001), an increased prevalence of behavioral disorders including attention deficit (P < 0.001), a significant worsening of languag

…
When analyzing clinical changes over the first 5-year follow-up, we observed a significant difference in cognitive function (P …
Sex-specific disease modifiers in juvenile myoclonic epilepsy.
Shakeshaft A, Panjwani N, Collingwood A, Crudgington H, Hall A, Andrade DM, Beier CP, Fong CY, Gardella E, Gesche J, Greenberg DA, Hamandi K, Koht J, Lim KS, Møller RS, Ng CC, Orsini A, Rees MI, Rubboli G, Selmer KK, Striano P, Syvertsen M, Thomas RH, Zarubova J, Richardson MP, Strug LJ, Pal DK. Shakeshaft A, et al. Sci Rep. 2022 Feb 21;12(1):2785. doi: 10.1038/s41598-022-06324-2. Sci Rep. 2022. PMID: 35190554 Free PMC article.
Juvenile myoclonic epilepsy (JME) is a common idiopathic generalised epilepsy with variable seizure prognosis and sex differences in disease presentation. ...In multivariable analysis in females, catamenial seizures (OR = 14.7, p = 0.001), absence seizures (O …
Juvenile myoclonic epilepsy (JME) is a common idiopathic generalised epilepsy with variable seizure prognosis and sex d …
Outcomes from a Spanish Expanded Access Program on cannabidiol treatment in pediatric and adult patients with epilepsy.
Villanueva V, García-Ron A, Smeyers P, Arias E, Soto V, García-Peñas JJ, González-Alguacil E, Sayas D, Serrano-Castro P, Garces M, Hampel K, Tomás M, Lara J, de Toledo M, Barceló I, Aledo-Serrano A, Gil-Nagel A, Iacampo L, Falip M, Saiz-Diaz RA, Gómez-Ibañez A, Sopelana D, Sanchez-Larsen A, López-González FJ. Villanueva V, et al. Epilepsy Behav. 2022 Dec;137(Pt A):108958. doi: 10.1016/j.yebeh.2022.108958. Epub 2022 Oct 29. Epilepsy Behav. 2022. PMID: 36327646
RESULTS: One hundred and two patients (DS 12 %; LGS 59 %; other epilepsy syndromes 29 %) with a mean age of 15.9 years were enrolled. ...At 12 months, seizure severity was lower in 33/54 patients (61.1 %) and unchanged in 17/54 patients (31.5 %). Quality of l …
RESULTS: One hundred and two patients (DS 12 %; LGS 59 %; other epilepsy syndromes 29 %) with a mean age of 15.9 years were en …
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.
RESULTS: The Full Analysis Set included 544 people with IGE (51.9% women, mean age = 33.3 years, mean epilepsy duration = 18.1 years). At 3, 6, and 12 months, 92.4%, 85.5%, and 77.3% of participants were retained on PER treatment, respectively (Retention Population, …
RESULTS: The Full Analysis Set included 544 people with IGE (51.9% women, mean age = 33.3 years, mean epilepsy duration = 18.1 years) …
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 …
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). ...RESULTS: Among 809 patients, 508 (62.8%) reported having any type of headache; 87.4% had interictal headache, and 41.2% had migraine. Cluster …
OBJECTIVE: The link between headache and epilepsy is more prominent in patients with idiopathic/genetic epilepsy (I/GE). ...RE …
Structural and functional connectivity in newly diagnosed juvenile myoclonic epilepsy.
Lee HJ, Park KM. Lee HJ, et al. Acta Neurol Scand. 2019 May;139(5):469-475. doi: 10.1111/ane.13079. Epub 2019 Feb 27. Acta Neurol Scand. 2019. PMID: 30758836
OBJECTIVES: We aimed to evaluate structural and functional connectivity of patients with newly diagnosed juvenile myoclonic epilepsy (JME) compared to healthy subjects. METHODS: We enrolled 36 patients with a diagnosis of JME, who were newly diagnosed and drug-naive …
OBJECTIVES: We aimed to evaluate structural and functional connectivity of patients with newly diagnosed juvenile myoclonic epilep …
Familial cortical myoclonic tremor with epilepsy: TTTCA/TTTTA repeat expansions and expanding phenotype in two Chinese families.
Zhang Y, Xiong W, Lu L, Zhou D. Zhang Y, et al. Brain Res. 2020 Jun 15;1737:146796. doi: 10.1016/j.brainres.2020.146796. Epub 2020 Mar 17. Brain Res. 2020. PMID: 32194077
Recently, expanded intronic TTTCA and TTTTA repeat in SAMD12 were identified in families with familial cortical myoclonic tremor with epilepsy (FCMTE). We conducted to this study to clarify the genetic etiology and to describe the clinical, neurophysiologic, …
Recently, expanded intronic TTTCA and TTTTA repeat in SAMD12 were identified in families with familial cortical myoclonic trem …
DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A.
Terasaki A, Nakamura M, Urata Y, Hiwatashi H, Yokoyama I, Yasuda T, Onuma T, Wada K, Kaneko S, Kan R, Niwa SI, Hashimoto O, Komure O, Goto YI, Yamagishi Y, Nakano M, Furusawa Y, Sano A. Terasaki A, et al. J Hum Genet. 2021 Apr;66(4):419-429. doi: 10.1038/s10038-020-00855-0. Epub 2020 Oct 10. J Hum Genet. 2021. PMID: 33040085
Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disease characterized by adult-onset tremulous hand movement, myoclonus, and infrequent epileptic seizures. ...To confirm these mutations, we performed a genetic an …
Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disease characterized by adult- …
203 results