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The progressive myoclonic epilepsies
Practical Neurology, 2015Progressive myoclonic epilepsies are a group of disorders characterised by a relentlessly progressive disease course until death; treatment-resistant epilepsy is just a part of the phenotype. This umbrella term encompasses many diverse conditions, ranging from Lafora body disease to Gaucher's disease.
Naveed, Malek +2 more
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Archives of Neurology, 1993
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
R A, Grünewald, C P, Panayiotopoulos
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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
R A, Grünewald, C P, Panayiotopoulos
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Medical Journal of Australia, 1992
Abstract Juvenile myoclonic epilepsy is a relatively common, though under diagnosed, form of epilepsy that commences in adolescence. The distinguishing symptoms, diagnosis and medical management are discussed.
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Abstract Juvenile myoclonic epilepsy is a relatively common, though under diagnosed, form of epilepsy that commences in adolescence. The distinguishing symptoms, diagnosis and medical management are discussed.
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Myoclonic status epilepticus in juvenile myoclonic epilepsy
Epileptic Disorders, 2009ABSTRACTBackgroundMyoclonic status epilepticus (MSE) is rarely found in juvenile myoclonic epilepsy (JME) and its clinical features are not well described. We aimed to analyze MSE incidence, precipitating factors and clinical course by studying patients with JME from a large outpatient epilepsy clinic.MethodsWe retrospectively screened all patients ...
Julia, Larch +5 more
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Journal of Clinical Neurophysiology, 2003
Myoclonic attacks are not characteristic of a specific syndrome. In infancy and early childhood, they are often observed in the context of syndromes that are associated with other types of seizures and with cognitive impairment but no obvious brain lesion. Characterization of the associated seizures and age of expression allows inclusion of a number of
Renzo, Guerrini, Jean, Aicardi
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Myoclonic attacks are not characteristic of a specific syndrome. In infancy and early childhood, they are often observed in the context of syndromes that are associated with other types of seizures and with cognitive impairment but no obvious brain lesion. Characterization of the associated seizures and age of expression allows inclusion of a number of
Renzo, Guerrini, Jean, Aicardi
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Pathophysiology of myoclonic epilepsies.
Advances in neurology, 2004Pathophysiology of myoclonic ...
GUERRINI, RENZO +4 more
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Repeat expansions in myoclonic epilepsy
Nature Genetics, 2018Noncoding expanded repeats have been implicated in a wide range of diseases. A new report uncovers expanded TTTCA and TTTTA repeats in an intronic region of SAMD12, and at least two other genes, in individuals with benign adult familial myoclonic epilepsy.
Marka, van Blitterswijk +1 more
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Juvenile myoclonic epilepsy and sleep
Epilepsy & Behavior, 2018Juvenile myoclonic epilepsy (JME) is a sleep-related epilepsy syndrome, and only a few studies have addressed the relationship between JME and sleep disorders. In this review, the sleep characteristics of patients with JME were summarized based on the features of circadian rhythm, the possible cause of the early morning seizures, the common subjective ...
Lin, Xu +5 more
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Juvenile myoclonic epilepsy of Janz
Neurology, 1984We studied 43 patients, aged 15 to 69 years, whose convulsive seizures were uncontrolled because the syndrome of juvenile myoclonic epilepsy was not recognized. Awakening myoclonic jerks appeared with tonic-clonic (18 patients), clonic-tonic-clonic (24 patients), and absence seizures (17 patients), with a mean age at onset of 13.6 years.
A V, Delgado-Escueta, F, Enrile-Bacsal
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Epidemiology of juvenile myoclonic epilepsy
Epilepsy & Behavior, 2013Juvenile myoclonic epilepsy (JME) is a widely recognized presumed genetic, electroclinical idiopathic generalized epilepsy syndrome. The prevalence of JME in large cohorts has been estimated to be 5% to 10% of all epilepsies and around 18% of idiopathic generalized epilepsies but may be lower in some settings.
Camfield CS +2 more
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