Epilepsy myoclonic epilepsies progressive. Medical search. Frequent questions

Vossler D.G., Conry J.A., Murphy J.V. Zonisamide for the treatment of myoclonic seizures in progressive myoclonic epilepsy: an open-label study. (jle.com)
Myoclonic seizures are characterized by rapid, jerklike movements that can affect the face, limbs, or axial musculature. (medscape.com)
In contrast to sleep-related myoclonus, myoclonic seizures occur during wakefulness and are associated with abnormal cortical discharges on EEG. (medscape.com)
Myoclonic seizures can occur in isolation or as part of a mixed-generalized epilepsy syndrome. (medscape.com)
EEG is required to distinguish myoclonic seizures from nonictal causes of myoclonus, which can arise from lesions of the cortex, brainstem, spinal cord, or even peripheral nerve (see Workup). (medscape.com)
The mainstays of therapy for myoclonic seizures are valproic acid (sodium valproate) and benzodiazepines (see Treatment). (medscape.com)
Some anticonvulsants may precipitate myoclonic seizures in predisposed individuals. (medscape.com)
Myoclonic seizures are generally the product of hypersynchronous, generalized cortical discharges. (medscape.com)
Seizures associated with early myoclonic encephalopathy can be due to a number of etiologies. (medscape.com)
The International League Against Epilepsy (ILAE) revised concepts and terminology related to the classification and description of seizures in 2010. (medscape.com)
[ 7 ] - In this class of myoclonic epilepsies, seizures occur in the context of an underlying neurodegenerative disorder. (medscape.com)
Across subtypes of childhood myoclonic epilepsy, many patients have an underlying genetic cause for their seizures. (medscape.com)
PME4 usually presents in the second decade of life as tremors and myoclonic jerks which progress into clonic-tonic seizures. (preventiongenetics.com)
In Ohtahara syndrome, tonic spasms are the dominant seizure type, with little to no myoclonic seizures. (medscape.com)
The seizure onset is often in childhood and is characterized by intractable myoclonic jerks with tonic-clonic seizures and massive myoclonic seizures. (medscape.com)
Differences in paracingulate connectivity associated with epileptiform discharges and uncontrolled seizures in genetic generalized epilepsy. (uc.edu)
Comparisons of childhood trauma, alexithymia, and defensive styles in patients with psychogenic non-epileptic seizures vs. epilepsy: Implications for the etiology of conversion disorder. (uc.edu)
She has a wide range of interests within this field and provides care for those with new onset seizures, refractory epilepsy requiring surgical evaluation, and everything in between. (uchealth.com)
Myoclonic seizures are poorly controlled by the standard antiepileptics. (medscape.com)

[Genton and Guerrini, 1990] Genton P., Guerrini R. Antimyoclonic effects of alcohol in progressive myoclonus epilepsy. (jle.com)
Minassian B.A., Striano P., Avanzini G. Progressive myoclonus epilepsy: the gene-empowered era. (jle.com)
[Pranzatelli and Tate, 2001] Pranzatelli M.R., Tate E.D. Chloral hydrate for progressive myoclonus epilepsy: a new look at an old drug. (jle.com)
Specific syndromes of progressive myoclonic epilepsy with key clinical features include Unverricht-Lundborg disease (Baltic myoclonus), myoclonus epilepsy with ragged red fibers (MERRF), neuronal ceroid lipofuscinoses (Batten disease), and sialidoses (cherry-red spot myoclonus syndrome). (medscape.com)
His clinical presentation raised suspicion of a progressive myoclonus epilepsy. (bmj.com)

Representative diseases include Unverricht-Lundborg disease, Lafora body disease, myoclonic epilepsy with ragged red fibers (MERRF), the neuronal ceroid lipofuscinoses, sialidosis, and dentate-rubral-pallidoluysian atrophy (DRPLA). (medscape.com)

[ 2 ] - This includes early myoclonic encephalopathy (EME) and early infantile epileptic encephalopathy (EIEE). (medscape.com)

EEG continues to play a central role in diagnosis and management of patients with seizure disorders-in conjunction with the now remarkable variety of other diagnostic techniques developed over the last 30 or so years-because it is a convenient and relatively inexpensive way to demonstrate the physiological manifestations of abnormal cortical excitability that underlie epilepsy. (bmj.com)
Secondly, correlation between different EEG patterns and epilepsy varies, and only IED are associated with seizure disorders at a sufficiently high rate to be of clinical use. (bmj.com)
The progressive myoclonic epilepsies (PMEs) are a heterogeneous group of seizure disorders characterized by myoclonus and often neurodegeneration. (preventiongenetics.com)

The history of the progressive myoclonus epilepsies (PMEs) spans more than a century. (elsevierpure.com)

Myoclonic epilepsies with onset in infancy and childhood are clinically and etiologically heterogeneous but, as a group, may be refractory to treatment. (medscape.com)

Dementia follows seizure onset and is progressive. (medscape.com)
Early-onset childhood dentatorubral-pallidoluysian atrophy involved mental retardation, whereas myoclonic epilepsy was the predominant complaint in later-onset childhood version of the disease. (hkmj.org)

Early myoclonic encephalopathy has an erratic focal myoclonus, which can migrate throughout the infant's body. (medscape.com)

It is crucial to recognise that a normal EEG does not exclude epilepsy, as around 10% of patients with epilepsy never show epileptiform discharges. (bmj.com)

Identification of a distinct epilepsy syndrome may enable more accurate prognostication (see Etiology). (medscape.com)
Progressive spasticity is frequently seen in older children and adolescents with Dravet syndrome, often associated with the development of crouch gait. (medscape.com)
PME4, previously called action myoclonus-renal failure syndrome (AMRF), is a progressive epilepsy disorder in which cognition is preserved (Badhwar et al. (preventiongenetics.com)
Two children in one family presented with progressive myoclonic epilepsy syndrome, and two children in the other family presented with ataxochoreo-athetoid symptoms. (hkmj.org)

Abnormalities of background cerebral rhythms, focal slow activity or regional attenuation are much less specific than epileptiform activity, although they can indicate localised structural pathology underlying the seizure disorder, or diffuse cortical dysfunction as in symptomatic generalised epilepsies. (bmj.com)

Benabid A.L., Minotti L., Koudsié A. Antiepileptic effect of high-frequency stimulation of the subthalamic nucleus (corpus luysi) in a case of medically intractable epilepsy caused by focal dysplasia: a 30-month follow-up: technical case report. (jle.com)

Hypothalamic-pituitary-adrenocortical axis dysfunction in epilepsy. (uc.edu)

Genton P., Striano P., Minassian B.A. The history of progressive myoclonus epilepsies. (jle.com)

Some types of epileptiform phenomena-3 per second spike wave discharge, hypsarrhythmia, and generalised photoparoxysmal response-are strongly correlated with clinical epilepsy, whereas focal sharp waves in centro-temporal or occipital regions have moderate association with clinically active epilepsy. (bmj.com)

The overall prognosis associated with myoclonic epilepsy in childhood depends on the underlying etiology. (medscape.com)
Clinical features can aid in the differentiation of myoclonic epilepsies from other forms of epilepsy and paroxysmal movements of childhood (see Clinical). (medscape.com)

Epileptiform activity is specific, but not sensitive, for diagnosis of epilepsy as the cause of a transient loss of consciousness or other paroxysmal event that is clinically likely to be epilepsy. (bmj.com)

Epilepsy syndromes that are included in the category of SGE are discussed below. (medscape.com)

[Uthman and Reichl, 2002] Uthman B.M., Reichl A. Progressive myoclonic epilepsies. (jle.com)

This is a group of epilepsies secondary to metabolic and neurodegenerative conditions. (medscape.com)

The clinical course of the disease depends on the associated effects of progressive storage in the organ systems where these substrates are highly concentrated. (medscape.com)

Table 1 lists the areas in epilepsy diagnosis and management for which interictal and ictal EEG are useful, strongly so in some, but in a more limited way in others. (bmj.com)
These wide ranges can be explained partly by diverse case selection and differences in clinical requirements for diagnosis of epilepsy in population studies of EEG specificity and sensitivity. (bmj.com)

Crest C., Dupont S., Leguern E. Levetiracetam in progressive myoclonic epilepsy: an exploratory study in 9 patients. (jle.com)
Temporal sampling is also limited, and the relatively short duration of routine interictal EEG recording is one reason why patients with epilepsy may not show interictal epileptiform discharge (IED) in the first EEG study. (bmj.com)
Secondly, an abnormal EEG demonstrating IED does not in itself indicate that an individual has a seizure disorder, as IED are seen in a small percentage of normal subjects who never develop epilepsy, and IED may also be found in patients with neurological disorders which are not complicated by epilepsy. (bmj.com)
These patients typically develop symptoms of myoclonic epilepsy , visual problems, and ataxia in the second or third decade of life. (medscape.com)

[Conry, 2004] Conry J.A. Pharmacologic treatment of the catastrophic epilepsies. (jle.com)
Development of new treatment approaches for epilepsy: unmet needs and opportunities. (uc.edu)
Dr. McKee's main focus is the treatment of epilepsy, both in the clinic and hospital setting. (uchealth.com)

Heather Ravvin McKee, MD is a fellowship-trained epilepsy specialist at the University Of Cincinnati Medical Center. (uchealth.com)
She completed her subspecialty fellowship in Epilepsy and Clinical Neurophysiology at Vanderbilt University in Nashville, TN. (uchealth.com)

Nonprogressive myoclonic epilepsies - This group of disorders overall has a more favorable prognosis and includes benign neonatal myoclonic epilepsy, familial myoclonic epilepsy, and autosomal dominant cortical myoclonus and epilepsy, among others. (medscape.com)

Chabardès S., Kahane P., Minotti L. Deep brain stimulation in epilepsy with particular reference to the subthalamic nucleus. (jle.com)
Vesper J., Steinhoff B., Rona S. Chronic high-frequency deep brain stimulation of the STN/SNr for progressive myoclonic epilepsy. (jle.com)
Wille C., Steinhoff B.J., Altenmüller D.-M. Chronic high-frequency deep-brain stimulation in progressive myoclonic epilepsy in adulthood-report of five cases. (jle.com)

Aykutlu E., Baykan B., Gürses C. Add-on therapy with topiramate in progressive myoclonic epilepsy. (jle.com)

Because the radiological, electroencephalographic, and electrophysiological findings were non-specific, we suggest that DRPLA gene testing should be performed in any child presenting with a variable combination of myoclonic epilepsy, mental retardation or developmental regression, and ataxochoreo-athetosis. (hkmj.org)

Anatomy3

Diseases26

Chemicals and Drugs11

Analytical, Diagnostic and Therapeutic Techniques and Equipment5

Phenomena and Processes4

Information Science1

Health Care2

Seizures19

Myoclonus epilepsy5

Include Unverricht-Lundbor1

Early infantile epileptic ence1

Seizure disorders3

PMEs1

Refractory1

Onset2

Encephalopathy1

Discharges1

Syndrome4

Symptomatic1

Intractable1

Dysfunction1

Genton1

Focal1

Childhood2

Clinically1

Syndromes1

20021

Neurodegenerative1

Depends1

Diagnosis2

Patients4

Treatment3

Fellowship2

Group1

Brain3

Therapy1

Specific1