Results 131 to 140 of about 2,714 (169)

Progressive myoclonic epilepsies: Recent genetic advances

Journal of Paediatrics and Child Health, 1997
Abstract:The progressive myoclonic epilepsies are a rare group of debilitating epileptic encephalopathies characterized by myoclonic seizures, progressive neurological dysfunction and dementia. In the past year advances in gene mapping have isolated gene loci for the majority of progressive myoclonic disorders, paving the way for specific diagnosis ...
Elizabeth J Elliott, John Christodoulou
exaly   +3 more sources

Progressive Myoclonic Epilepsies

Journal of Child Neurology, 2002
The progressive myoclonic epilepsies are a rare but extremely debilitating group of disorders that are difficult to diagnose and even harder to treat. They represent a heterogeneous subgroup of those with secondary generalized epilepsy. Efficacy of treatment is often measured in terms of slowing a patient's inevitable decline.
Basim M., Uthman, Andreas, Reichl
openaire   +4 more sources

Progressive myoclonic epilepsy

Neurology India, 2010
Progressive myoclonic epilepsy (PME) is a disease complex and is characterized by the development of relentlessly progressive myoclonus, cognitive impairment, ataxia, and other neurologic deficits. It encompasses different diagnostic entities and the common causes include Lafora body disease, neuronal ceroid lipofuscinoses, Unverricht-Lundborg disease,
Satishchandra, P., Sinha, S.
openaire   +2 more sources

Neurophysiology of Juvenile and Progressive Myoclonic Epilepsy

Journal of Clinical Neurophysiology, 2022
Summary: Myoclonus can be epileptic or nonepileptic. Epileptic myoclonus has been defined in clinical, neurophysiological, and neuroanatomical terms. Juvenile myoclonic epilepsy (JME) is typically considered to be an adolescent-onset idiopathic generalized epilepsy with a combination of myoclonic, generalized tonic–clonic, and absence ...
Jayant N, Acharya, Vinita J, Acharya
openaire   +2 more sources

The progressive myoclonic epilepsies

Practical Neurology, 2015
Progressive 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, William, Stewart, John, Greene   +2 more
openaire   +2 more sources

Progressive Myoclonic Epilepsies

2013
info:eu-repo/semantics ...
Legros, Benjamin, Zupanc, Mary M.L.
openaire   +2 more sources

Startle Response in Progressive Myoclonic Epilepsy

Clinical EEG and Neuroscience, 2016
Cortical reflex myoclonus is a typical feature of progressive myoclonic epilepsy (PME) in which it is accompanied by other types of mostly drug-resistant seizures and progressive neurological signs. Although PME is characterized by cortical hyperexcitability, studies have demonstrated atrophy and degenerative changes in the brainstem in various types ...
Kiziltan, Meral E., Gunduz, Aysegul, Coskun, Tulin, Delil, Sakir, Pazarci, Nevin, Ozkara, Cigdem, Yeni, Naz   +6 more
openaire   +3 more sources

Progressive Myoclonic Epilepsy

2012
Myoclonic seizures are epileptic seizures in which the main manifestation is myoclonus. Myoclonus is accompanied by a generalized epileptiform discharge but the myoclonus may be generalized, segmental, or focal. Progressive myoclonic epilepsies (PMEs) are an unusual and heterogeneous group of epilepsies with debilitating progression, resistance to ...
Roongroj Bhidayasiri, Daniel Tarsy
openaire   +1 more source

[Progressive myoclonic epilepsy].

Ugeskrift for laeger, 1996
Progressive myoclonic epilepsy (PME) is a syndrome characterized by myoclonias, epilepsy, progressive dementia and other neurological deficits. PME may be caused by various, rare, incompletely elucidated genetic diseases, and is characterized by age at onset, duration, clinical and pathoanatomical abnormalities. There is ethnic and geographic variation
T T, Sørensen, M J, Kjeldsen, M L, Friis   +2 more
openaire   +1 more source

Progressive Myoclonic Epilepsy

2013
A 19-year-old, right-handed female of mixed Caucasian and Mediterranean decent presented to an epilepsy clinic with a diagnosis of “seizure disorder.” At 14 years of age she experienced her first generalized tonic–clonic seizure. Subsequently, she developed multifocal myoclonus and was diagnosed with the Juvenile Myoclonic Epilepsy (JME) syndrome ...
openaire   +1 more source