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Annals of Clinical and Translational... Jul 2021We present a female patient in her early twenties with global development delay, progressive ataxia, epilepsy, and myoclonus caused by a stop mutation in the SEMA6B...
We present a female patient in her early twenties with global development delay, progressive ataxia, epilepsy, and myoclonus caused by a stop mutation in the SEMA6B gene. Truncating DNA variants located in the last exon of SEMA6B have recently been identified as a cause of autosomal dominant progressive myoclonus epilepsy. In many cases, myoclonus in the context of progressive myoclonic epilepsy is refractory to medical treatment. In the present case, treatment with zonisamide caused clinical improvement, particularly of positive and negative truncal myoclonus, considerably improving patient's gait and thus mobility.
Topics: Anticonvulsants; Female; Humans; Myoclonic Epilepsies, Progressive; Pedigree; Semaphorins; Exome Sequencing; Young Adult; Zonisamide
PubMed: 34092044
DOI: 10.1002/acn3.51403 -
Indian Journal of Pediatrics Mar 2020
Topics: Brain; Child; Epilepsy; Glioma; Humans; Male; Myoclonic Epilepsies, Progressive; Thalamic Diseases
PubMed: 31444734
DOI: 10.1007/s12098-019-03056-6 -
Revue Neurologique 1990Juvenile myoclonic epilepsy is an age-related form of idiopathic generalized epilepsy (mean age of onset: 12-14 years). The diagnosis is based on a cluster of clinical... (Review)
Review
Juvenile myoclonic epilepsy is an age-related form of idiopathic generalized epilepsy (mean age of onset: 12-14 years). The diagnosis is based on a cluster of clinical features: types of seizures, namely myoclonic jerks associated with generalized tonic-clonic or clonic-tonic-clonic seizures in 90% of the cases, absence seizures in one third of the cases; triggering factors and circadian rhythm of seizures on awakening or after sleep deprivation; a characteristic EEG pattern, i.e. bilateral symmetrical polyspike-waves. The clinical pattern is so suggestive that in clinical practice EEG is not necessary. Seventy percent of the patients are seizure-free with one-drug therapy. Treatment must be life-long, as relapse occurs in most cases after drug withdrawal, whatever the duration of control.
Topics: Adolescent; Child; Child, Preschool; Electroencephalography; Epilepsies, Myoclonic; Female; Humans; Incidence; Male; Prevalence; Time Factors
PubMed: 2127123
DOI: No ID Found -
Revista de Neurologia Nov 1996Since juvenile myoclonic epilepsy (EMJ) and/or Janz syndrome is a primary syndrome which persists throughout life, there should be permanent behavioural hygiene and... (Review)
Review
Since juvenile myoclonic epilepsy (EMJ) and/or Janz syndrome is a primary syndrome which persists throughout life, there should be permanent behavioural hygiene and treatment to keep it under control. Suspension of treatment is nearly always followed by recurrence. Although some researchers report relapses of 75% on suspension of treatment, Janz (1995), cited by Dreifuss points out that this rises to 91% in patients who suspend treatment after two years with no crises. This is, to date, the highest documented level of relapses in epilepsy (5,6,12).
Topics: Adolescent; Child; Child, Preschool; Electroencephalography; Epilepsies, Myoclonic; History, 19th Century; History, 20th Century; Humans
PubMed: 8974749
DOI: No ID Found -
Clinical Neurophysiology : Official... Sep 2017To elucidate the characteristics of the myoclonic seizures alone, or predominant myoclonus combined with generalized tonic-clonic seizures (GTCS) and/or absences, in...
OBJECTIVE
To elucidate the characteristics of the myoclonic seizures alone, or predominant myoclonus combined with generalized tonic-clonic seizures (GTCS) and/or absences, in early childhood, and discuss its classification.
METHODS
Forty-two children were retrospectively recruited between January 2006 and June 2015.
RESULTS
The mean age of seizure onset was 40.5months. They were divided into 4 groups: myoclonic seizures alone; predominant myoclonus combined with GTCS; predominant myoclonus combined with absences; predominant myoclonus combined with both GTCS and absences. Interictal EEG showed generalized spike- or polyspike-wave discharges at 2-4Hz. Seizures were controlled in 22 patients at a mean age of 60.5months. The psychomotor development was normal (30/37) or mildly delayed (7/37).
CONCLUSIONS
We reported a cohort of patients with early childhood myoclonic epilepsy (ECME), with the following characteristics: Seizures started below 5years old in otherwise normal children; Seizure types included myoclonic seizures alone or combined with GTCS and/or absences; Febrile or afebrile GTCS might appear firstly; Interictal EEG showed generalized spike- or polyspike-wave; Seizures usually were in remission before adolescence with normal development or mild cognitive or behavioral deficits in most.
SIGNIFICANCE
ECME might be an independent epileptic syndrome not established by International League Against Epilepsy (ILAE) previously.
Topics: Child, Preschool; Cohort Studies; Electroencephalography; Epilepsies, Myoclonic; Epilepsy, Generalized; Female; Humans; Infant; Male; Myoclonus; Retrospective Studies
PubMed: 28738275
DOI: 10.1016/j.clinph.2017.06.244 -
Epilepsia 2003The myoclonic epilepsies are a collection of syndromes in which myoclonic seizures are a prominent feature. Proper classification of a patient's syndrome is critical for... (Review)
Review
The myoclonic epilepsies are a collection of syndromes in which myoclonic seizures are a prominent feature. Proper classification of a patient's syndrome is critical for appropriate treatment and prognosis. However, classification of such syndromes is often difficult because the terminology used to describe seizures can be confusing and inconsistent. Myoclonic epilepsy syndromes can be epileptic or nonepileptic and can also be divided into inherited and acquired forms. Progressive myoclonic epilepsy (PME) syndromes are the most severe of the myoclonic epilepsies. Diagnosis of PME syndromes on clinical grounds can be difficult, but advances in genetic testing have made diagnoses more accurate. Some other benign myoclonic epilepsy syndromes also have identified gene markers, which can aid in diagnosis. To accurately classify a patient's epilepsy syndrome, clinicians should use all available clinical laboratory tools appropriately. Improved accuracy of diagnosis for patients with myoclonic epilepsies should lead to more dependable prognoses and more effective treatment.
Topics: Epilepsies, Myoclonic; Humans
PubMed: 14641565
DOI: 10.1046/j.1528-1157.44.s11.4.x -
Epilepsia 2004The epilepsies of childhood are distinguished by an interesting dichotomy between the benign and catastrophic disorders. Approximately 50% of children outgrow childhood... (Comparative Study)
Comparative Study Review
The epilepsies of childhood are distinguished by an interesting dichotomy between the benign and catastrophic disorders. Approximately 50% of children outgrow childhood epilepsy as they mature; although the disorder is disruptive for children and families alike, it is not considered a medical disaster. The catastrophic epilepsies of childhood, in contrast, are associated with significant morbidity and mortality. Infantile spasms, Lennox-Gastaut syndrome, and the progressive myoclonic epilepsies are correlated with significant disability and a multiplicity of underlying etiologies. Accurate diagnosis of both the syndrome and the etiology is very important for treatment purposes, as well as for family education, since many of the disorders have a significant genetic component.
Topics: Adolescent; Adult; Age Factors; Child; Child, Preschool; Diagnosis, Differential; Epilepsies, Myoclonic; Epilepsy; Humans; Infant; Infant, Newborn; Lafora Disease; Mitochondrial Encephalomyopathies; Mucolipidoses; Neuronal Ceroid-Lipofuscinoses; Professional-Family Relations; Prognosis; Spasms, Infantile; Unverricht-Lundborg Syndrome
PubMed: 15283704
DOI: 10.1111/j.0013-9580.2004.05002.x -
Epilepsia May 2009Work on the classification of epileptic syndromes is ongoing, and many syndromes are still under discussion. In particular, special difficulty still persists in... (Review)
Review
Work on the classification of epileptic syndromes is ongoing, and many syndromes are still under discussion. In particular, special difficulty still persists in correctly classifying epilepsies with myoclonic seizures. The existence of special familial epileptic syndromes primarily showing myoclonic features has been recently suggested on the basis of a clear pattern of inheritance or on the identification of new chromosomal genetic loci linked to the disease. These forms in development include familial infantile myoclonic epilepsy (FIME), benign adult familial myoclonic epilepsy (BAFME), or autosomal dominant cortical myoclonus and epilepsy (ADCME), and, maybe, adult-onset myoclonic epilepsy (AME). In the future, the identification of responsible genes and the protein products will contribute to our understanding of the molecular pathways of epileptogenesis and provide neurobiologic criteria for the classification of epilepsies, beyond the different phenotypic expression.
Topics: Cerebral Cortex; Electroencephalography; Epilepsies, Myoclonic; Genotype; Humans
PubMed: 19469844
DOI: 10.1111/j.1528-1167.2009.02118.x -
Clinical Neurophysiology : Official... Jul 2023Familial Adult Myoclonic Epilepsy (FAME) presents with action-activated myoclonus, often associated with epilepsy, sharing various features with Progressive Myoclonic...
OBJECTIVE
Familial Adult Myoclonic Epilepsy (FAME) presents with action-activated myoclonus, often associated with epilepsy, sharing various features with Progressive Myoclonic Epilepsy (PMEs), but with slower course and limited motor disability. We aimed our study to identify measures suitable to explain the different severity of FAME2 compared to EPM1, the most common PME, and to detect the signature of the distinctive brain networks.
METHODS
We analyzed the EEG-EMG coherence (CMC) during segmental motor activity and indexes of connectivity in the two patient groups, and in healthy subjects (HS). We also investigated the regional and global properties of the network.
RESULTS
In FAME2, differently from EPM1, we found a well-localized distribution of beta-CMC and increased betweenness-centrality (BC) on the sensorimotor region contralateral to the activated hand. In both patient groups, compared to HS, there was a decline in the network connectivity indexes in the beta and gamma band, which was more obvious in FAME2.
CONCLUSIONS
In FAME2, better localized CMC and increased BC in comparison with EPM1 patients could counteract the severity and the spreading of the myoclonus. Decreased indexes of cortical integration were more severe in FAME2.
SIGNIFICANCE
Our measures correlated with different motor disabilities and identified distinctive brain network impairments.
Topics: Humans; Adult; Myoclonus; Disabled Persons; Electroencephalography; Electromyography; Motor Disorders; Epilepsies, Myoclonic; Myoclonic Epilepsies, Progressive; Unverricht-Lundborg Syndrome; Brain
PubMed: 37216715
DOI: 10.1016/j.clinph.2023.04.009 -
Epileptic Disorders : International... Feb 2023The purpose of this study was to investigate the timing of generalized electroencephalographic abnormalities in patients with juvenile myoclonic epilepsy who were...
The purpose of this study was to investigate the timing of generalized electroencephalographic abnormalities in patients with juvenile myoclonic epilepsy who were followed up long term before the onset of juvenile myoclonic epilepsy. We enrolled juvenile myoclonic epilepsy patients whose course of epilepsy had been observed for >5 years before the onset of juvenile myoclonic epilepsy, those who had undergone electroencephalogram recording more than twice before the onset of juvenile myoclonic epilepsy, and those who had terminated antiseizure medications for at least 2 years before the onset of juvenile myoclonic epilepsy. Patients who had transitioned from childhood absence epilepsy to juvenile myoclonic epilepsy were excluded. We retrospectively reviewed the medical records and neurophysiological data of the patients. Four patients met the inclusion criteria. One patient was diagnosed with febrile seizures during childhood, and the remaining three had transitioned to juvenile myoclonic epilepsy from other epileptic disorders, such as self-limited epilepsy with autonomic seizures, genetic epilepsy with febrile seizure plus, or nonspecific genetic generalized epilepsy. All patients exhibited generalized spike-wave discharges or photoparoxysmal responses for >2 years before the onset of juvenile myoclonic epilepsy. The four patients had transitioned to juvenile myoclonic epilepsy from other epileptological preconditions. Patients with juvenile myoclonic epilepsy may show generalized electroencephalographic abnormality many years prior to the onset of symptoms. Generalized spike-waves on the electroencephalogram during the course of any type of epilepsy or febrile seizure may be a risk factor for developing juvenile myoclonic epilepsy.
Topics: Humans; Myoclonic Epilepsy, Juvenile; Epilepsies, Myoclonic; Retrospective Studies; Seizures, Febrile; Electroencephalography; Epilepsy, Generalized
PubMed: 36946369
DOI: 10.1002/epd2.20052