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Cleveland Clinic Journal of Medicine 1989
Review
Topics: Child; Epilepsies, Myoclonic; Epilepsy, Absence; Humans
PubMed: 2498010
DOI: 10.1007/978-3-642-95553-2_7 -
Ryoikibetsu Shokogun Shirizu 2002
Review
Topics: Child; Child, Preschool; Diagnosis, Differential; Drug Therapy, Combination; Electroencephalography; Epilepsies, Myoclonic; Ethosuximide; Humans; Infant; Prognosis; Syndrome; Valproic Acid
PubMed: 12483839
DOI: No ID Found -
Epilepsia Aug 2012Herman Doose first described the generalized childhood epilepsy syndrome of myoclonic astatic epilepsy (MAE) in 1970, attributing a genetic cause from this first... (Review)
Review
Herman Doose first described the generalized childhood epilepsy syndrome of myoclonic astatic epilepsy (MAE) in 1970, attributing a genetic cause from this first description. However, although the International League Against Epilepsy (ILAE) defined criteria for MAE in 1989, the diagnostic boundaries of the syndrome continue to be debated. Moreover, 40 years since Doose's first description of MAE, although a genetic predisposition is acknowledged and many studies have demonstrated familial aggregation of seizures within MAE families, the actual genetic determinants of MAE still remain unknown. Although initially thought to be within the same spectrum as severe myoclonic epilepsy of infancy, the exclusion of SCN1A mutations in non-generalized epilepsy with febrile seizures plus (GEFS+) MAE cases has confirmed the genetic distinction of MAE. In this critical review, we shall trace the historical evolution of concepts around MAE and its distinction from Lennox-Gastaut syndrome, review the described phenotypic features of MAE from updated studies that will allow its distinction from other overlap epilepsy syndromes, review the evidence of genetic influences and clues for genetic heterogeneity, and discuss strategies that may be helpful in elucidating the etiology of MAE in light of current genetic techniques.
Topics: Child, Preschool; Comorbidity; Electroencephalography; Epilepsies, Myoclonic; Female; Humans; Male; Mutation; Pedigree; Prognosis; Seizures; Twin Studies as Topic
PubMed: 22780699
DOI: 10.1111/j.1528-1167.2012.03581.x -
Epilepsia Apr 2011
Review
Topics: Age Factors; Epilepsies, Myoclonic; Humans; Infant; NAV1.1 Voltage-Gated Sodium Channel; Nerve Tissue Proteins; Sodium Channels; Syndrome; Time Factors
PubMed: 21463271
DOI: 10.1111/j.1528-1167.2011.02993.x -
Epileptic Disorders : International... Apr 2019To determine the integrity of colour perception, related to photic sensitivity, in patients with juvenile myoclonic epilepsy. Twenty-four patients with photoparoxysmal...
To determine the integrity of colour perception, related to photic sensitivity, in patients with juvenile myoclonic epilepsy. Twenty-four patients with photoparoxysmal response, 27 patients without photoparoxysmal response, and 32 healthy individuals were investigated using the Farnsworth Munsell-100 Hue test to calculate error scores for total colour, blue/yellow, and red/green. No significant differences were observed regarding blue/yellow, red/green or total error score between juvenile myoclonic epilepsy patients with or without photoparoxysmal response. However, the data for all three scores were significantly higher in both patient groups compared to the healthy control group. In both patient groups, the blue/yellow error score was significantly higher than the red/green error score. We were unable to identify a relationship between photoparoxysmal response and colour vision in patients with juvenile myoclonic epilepsy. We believe that the underlying reason why juvenile myoclonic epilepsy patients had significantly higher blue/yellow, red/green, and total error score compared to the healthy control group may be due to GABA dysfunction, which is considered to play a role in the pathophysiology of this disease as well as the physiology of colour vision.
Topics: Adult; Color Perception; Color Vision; Epilepsies, Myoclonic; Female; Humans; Male; Myoclonic Epilepsy, Juvenile; Photosensitivity Disorders; Young Adult
PubMed: 30945640
DOI: 10.1684/epd.2019.1043 -
Epileptic Disorders : International... Sep 2013
Topics: Electroencephalography; Epilepsies, Myoclonic; Humans; Infant; Infant, Newborn; Prognosis; Treatment Outcome
PubMed: 23996698
DOI: 10.1684/epd.2013.0606 -
Archives of Neurology Jun 1993Juvenile myoclonic epilepsy is a common idiopathic generalized epileptic syndrome that occurs in 5% to 10% of patients with epilepsy. Despite this, it is still... (Review)
Review
Juvenile myoclonic epilepsy is a common idiopathic generalized epileptic syndrome that occurs in 5% to 10% of patients with epilepsy. Despite this, it is still frequently unrecognized and misdiagnosed, even as epilepsy of focal onset. Juvenile myoclonic epilepsy usually responds well to treatment with appropriate anticonvulsants, and misdiagnosis often results in unnecessary morbidity. This article reviews the syndrome, including the clinical and electroencephalographic features, the misinterpretation of which contributes to misdiagnosis.
Topics: Adolescent; Brain; Electroencephalography; Epilepsies, Myoclonic; Humans; Male
PubMed: 8503795
DOI: 10.1001/archneur.1993.00540060034013 -
Scientific Reports Feb 2022Juvenile myoclonic epilepsy (JME) is a common idiopathic generalised epilepsy with variable seizure prognosis and sex differences in disease presentation. Here, we...
Juvenile myoclonic epilepsy (JME) is a common idiopathic generalised epilepsy with variable seizure prognosis and sex differences in disease presentation. Here, we investigate the combined epidemiology of sex, seizure types and precipitants, and their influence on prognosis in JME, through cross-sectional data collected by The Biology of Juvenile Myoclonic Epilepsy (BIOJUME) consortium. 765 individuals met strict inclusion criteria for JME (female:male, 1.8:1). 59% of females and 50% of males reported triggered seizures, and in females only, this was associated with experiencing absence seizures (OR = 2.0, p < 0.001). Absence seizures significantly predicted drug resistance in both males (OR = 3.0, p = 0.001) and females (OR = 3.0, p < 0.001) in univariate analysis. In multivariable analysis in females, catamenial seizures (OR = 14.7, p = 0.001), absence seizures (OR = 6.0, p < 0.001) and stress-precipitated seizures (OR = 5.3, p = 0.02) were associated with drug resistance, while a photoparoxysmal response predicted seizure freedom (OR = 0.47, p = 0.03). Females with both absence seizures and stress-related precipitants constitute the prognostic subgroup in JME with the highest prevalence of drug resistance (49%) compared to females with neither (15%) and males (29%), highlighting the unmet need for effective, targeted interventions for this subgroup. We propose a new prognostic stratification for JME and suggest a role for circuit-based risk of seizure control as an avenue for further investigation.
Topics: Adolescent; Adult; Child; Cross-Sectional Studies; Drug Resistance; Epilepsies, Myoclonic; Epilepsy, Absence; Female; Humans; Male; Middle Aged; Myoclonic Epilepsy, Juvenile; Photosensitivity Disorders; Prognosis; Seizures; Sex Characteristics; Young Adult
PubMed: 35190554
DOI: 10.1038/s41598-022-06324-2 -
Arquivos de Neuro-psiquiatria Dec 1995We report the case of a patient with trisomy 21 (T21) with late onset epilepsy. The electroclinical features were of myoclonic jerks on awakening and generalised tonic... (Review)
Review
We report the case of a patient with trisomy 21 (T21) with late onset epilepsy. The electroclinical features were of myoclonic jerks on awakening and generalised tonic clonic seizures, with generalised spike and wave on EEG, and a progressive dementia. As familial Alzheimer's dementia and progressive myoclonic epilepsy (Unverricht-Lundborg type) are both linked to the chromosome 21, this case may represent a distinct progressive myoclonic epilepsy related to T21.
Topics: Down Syndrome; Epilepsies, Myoclonic; Humans; Male; Middle Aged
PubMed: 8729775
DOI: 10.1590/s0004-282x1995000500014 -
Epileptic Disorders : International... Jun 2023
Review
Topics: Humans; Myoclonic Epilepsy, Juvenile; Epilepsies, Myoclonic; Status Epilepticus; Electroencephalography
PubMed: 36942390
DOI: 10.1002/epd2.20042