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Quoted phrase not found in phrase index: "Epilepsy, familial adult myoclonic, 4"
Page 1
Long-term safety and efficacy of cannabidiol in children and adults with treatment resistant Lennox-Gastaut syndrome or Dravet syndrome: Expanded access program results.
Laux LC, Bebin EM, Checketts D, Chez M, Flamini R, Marsh ED, Miller I, Nichol K, Park Y, Segal E, Seltzer L, Szaflarski JP, Thiele EA, Weinstock A; CBD EAP study group. Laux LC, et al. Epilepsy Res. 2019 Aug;154:13-20. doi: 10.1016/j.eplepsyres.2019.03.015. Epub 2019 Mar 25. Epilepsy Res. 2019. PMID: 31022635 Free article. Clinical Trial.
During the 4-week baseline period, parents/caregivers kept diaries of all countable seizure types. ...LGS/DS patients were taking a median of 3 (0-10) concomitant AEDs. Median treatment duration was 78.3 (range, 4.1-146.4) weeks. Between weeks 12 and 96, medi …
During the 4-week baseline period, parents/caregivers kept diaries of all countable seizure types. ...LGS/DS patients were taking a m …
Pharmacotherapy for Dravet Syndrome: A Systematic Review and Network Meta-Analysis of Randomized Controlled Trials.
Lattanzi S, Trinka E, Russo E, Del Giovane C, Matricardi S, Meletti S, Striano P, Damavandi PT, Silvestrini M, Brigo F. Lattanzi S, et al. Drugs. 2023 Oct;83(15):1409-1424. doi: 10.1007/s40265-023-01936-y. Epub 2023 Sep 11. Drugs. 2023. PMID: 37695433 Free PMC article.
BACKGROUND: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy characterized by drug-resistant, lifelong seizures. ...METHODS: Studies were identified by conducting a systematic search (week 4, January 2023) of the MEDLINE (accessed by PubMe …
BACKGROUND: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy characterized by drug-resistant, lifelong sei …
Familial adult myoclonic epilepsy: A new expansion repeats disorder.
Lagorio I, Zara F, Striano S, Striano P. Lagorio I, et al. Seizure. 2019 Apr;67:73-77. doi: 10.1016/j.seizure.2019.03.009. Epub 2019 Mar 19. Seizure. 2019. PMID: 30928698 Free article. Review.
Familial adult myoclonic epilepsy (FAME), also described with different acronyms (ADCME, BAFME, FEME, FCTE and others), is a high-penetrant autosomal dominant condition featuring cortical hand tremors, myoclonic jerks, and occasional/rare convul …
Familial adult myoclonic epilepsy (FAME), also described with different acronyms (ADCME, BAFME, FEME, FCTE and o …
Epilepsy in children.
Arnold ST, Dodson WE. Arnold ST, et al. Baillieres Clin Neurol. 1996 Dec;5(4):783-802. Baillieres Clin Neurol. 1996. PMID: 9068881 Review.
The idiopathic generalized absence epilepsies are usually easy to control with medication. They range from childhood absence epilepsy which tends to remit in adolescence to juvenile myoclonic epilepsy which is a lifelong condition. In contrast, the seizures o …
The idiopathic generalized absence epilepsies are usually easy to control with medication. They range from childhood absence epilepsy …
Juvenile myoclonic epilepsy: Long-term prognosis and risk factors.
Pietrafusa N, La Neve A, de Palma L, Boero G, Luisi C, Vigevano F, Specchio N. Pietrafusa N, et al. Brain Dev. 2021 Jun;43(6):688-697. doi: 10.1016/j.braindev.2021.02.005. Epub 2021 Mar 27. Brain Dev. 2021. PMID: 33781581 Review.
OBJECTIVE: Our goal was to investigate the long-term clinical course of juvenile myoclonic epilepsy (JME) in a cohort of patients and to identify prognostic factors for refractoriness and seizure relapse after anti-seizure medications (ASMs) withdrawal. ...In the mu …
OBJECTIVE: Our goal was to investigate the long-term clinical course of juvenile myoclonic epilepsy (JME) in a cohort of patie …
Potential role of brivaracetam in pediatric epilepsy.
Verrotti A, Grasso EA, Cacciatore M, Matricardi S, Striano P. Verrotti A, et al. Acta Neurol Scand. 2021 Jan;143(1):19-26. doi: 10.1111/ane.13347. Epub 2020 Oct 13. Acta Neurol Scand. 2021. PMID: 32966640 Review.
Most studies about the efficacy and tolerability conducted so far were performed in adult cohorts, whereas few studies have been performed in children; however, BRV was proven to be a useful ASM for pediatric focal epilepsies, with fewer studies and conflicting results amo …
Most studies about the efficacy and tolerability conducted so far were performed in adult cohorts, whereas few studies have been perf …
Neurological mitochondrial cytopathies.
Mehndiratta MM, Agarwal P, Tatke M, Krishnamurthy M. Mehndiratta MM, et al. Neurol India. 2002 Jun;50(2):162-7. Neurol India. 2002. PMID: 12134180 Free article.
The mean age was 24.42+/-11.18 years (range 4-40 years). Twelve patients could be categorized into well-defined syndromes, while two belonged to undefined group. ...Serum lactic acid level was significantly increased in all the patients (fasting 28.96+/-4.59 …
The mean age was 24.42+/-11.18 years (range 4-40 years). Twelve patients could be categorized into well-defined syndromes, whi …
Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.
Yeetong P, Dembélé ME, Pongpanich M, Cissé L, Srichomthong C, Maiga AB, Dembélé K, Assawapitaksakul A, Bamba S, Yalcouyé A, Diarra S, Mefoung SE, Rakwongkhachon S, Traoré O, Tongkobpetch S, Fischbeck KH, Gahl WA, Guinto CO, Shotelersuk V, Landouré G. Yeetong P, et al. Mov Disord. 2024 Jan;39(1):164-172. doi: 10.1002/mds.29654. Epub 2023 Nov 22. Mov Disord. 2024. PMID: 37994247
BACKGROUND: Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disorder characterized by cortical tremors and seizures. ...RESULTS: We identified TTTTA repeat expansions and TTTCA repeat insertions in intron 4 of the RAI1 …
BACKGROUND: Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disorder characterized by …
Clinical picture of EPM1-Unverricht-Lundborg disease.
Kälviäinen R, Khyuppenen J, Koskenkorva P, Eriksson K, Vanninen R, Mervaala E. Kälviäinen R, et al. Epilepsia. 2008 Apr;49(4):549-56. doi: 10.1111/j.1528-1167.2008.01546.x. Epub 2008 Mar 5. Epilepsia. 2008. PMID: 18325013 Free article. Review.
Unverricht-Lundborg disease (ULD), progressive myoclonic epilepsy type 1 (EPM1, OMIM254800), is an autosomal recessively inherited neurodegenerative disorder characterized by age of onset from 6 to 16 years, stimulus-sensitive myoclonus, and tonic-clonic epilepti …
Unverricht-Lundborg disease (ULD), progressive myoclonic epilepsy type 1 (EPM1, OMIM254800), is an autosomal recessively inher …
TTTCA repeat expansion causes familial cortical myoclonic tremor with epilepsy.
Lei XX, Liu Q, Lu Q, Huang Y, Zhou XQ, Sun HY, Wu LW, Cui LY, Zhang X. Lei XX, et al. Eur J Neurol. 2019 Mar;26(3):513-518. doi: 10.1111/ene.13848. Epub 2018 Nov 30. Eur J Neurol. 2019. PMID: 30351492
BACKGROUND AND PURPOSE: The aim was to investigate whether abnormal TTTTA and TTTCA repeat expansions in introns of SAMD12, TNRC6A and RAPGEF2 are involved in the pathogenesis of familial cortical myoclonic tremor with epilepsy (FCMTE). METHODS: Five families …
BACKGROUND AND PURPOSE: The aim was to investigate whether abnormal TTTTA and TTTCA repeat expansions in introns of SAMD12, TNRC6A and RAPGE …
282 results