Results 151 to 160 of about 8,275 (187)

Progressive Myoclonic Epilepsy

1987
Progressive myoclonic epilepsy or progressive myoclonus epilepsy (PME) is a rare condition. It is commonly hereditary, is characterized by generalized convulsive seizures and myoclonic jerks frequently provoked by volitional movements, and is frequently associated with cerebellar ataxia, mental deterioration, pyramidal signs, and rigidity.
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A prickly cause of progressive myoclonic epilepsy

Clinical Genetics, 2009
A homozygous mutation in human PRICKLE1 causes an autosomal‐recessive Progressive Myoclonus Epilepsy‐Ataxia Syndrome
Bassuk et al. (2008)
American Journal of Human Genetics 83: 1–10.
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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 ...
C J, Ellaway, E J, Elliott, J, Christodoulou   +2 more
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Juvenile Huntington’s disease presenting as progressive myoclonic epilepsy

Neurology, 2001
A 9-year-old girl, who had no family history of neurologic diseases in the first-degree relatives, had a 3-year history of progressive myoclonus epilepsy (PME). A thorough laboratory investigation was normal. As two sisters of her paternal grandmother were said to have Huntington's disease (HD), the authors looked for HD and found a CAG repeat ...
Gambardella A, Muglia M, Labate A, Magariello A, Gabriele AL, Mazzei R, Pirritano D, Conforti FL, Patitucci A, Valentino P, Zappia M, Quattrone A   +11 more
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PROGRESSIVE MYOCLONIC EPILEPSY WITH LAFORA'S BODIES

Acta Neurologica Scandinavica, 2009
Two cases of Lafora's disease of rapid evolution with a typical clinical picture, and increased glutamic acid urine excretion are described. Partial critical control was obtained using clonazepam. The relation-ship between PME and heredodegenerative ataxia is discussed; the existence of subacute and precocious forms with long evolution in Lafora's ...
E S, Lope, S, Ramón, S R, Junquera, A B, Berenguel   +3 more
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A De Novo SEMA6B Variant in a Chinese Patient with Progressive Myoclonic Epilepsy-11 and Review of the Literature

Journal of Molecular Neuroscience, 2021
Xuqin Chen
exaly  

Progressive Myoclonic Epilepsy’-like presentation of Cerebrotendinous Xanthomatosis in an Indian Family with A Novel C.646+1G>A Splice Site Mutation

Epilepsy and Behavior Reports, 2021
Karan M Desai, Neeraj Jain, Shruti Agrawal   +2 more
exaly  

Myoclonic epilepsy ("myoclonic status") in non progressive encephalopathies

1992
Eelectroclinical features of myoclonic status in children with non.progressive ...
DALLA BERNARDINA, Bernardo, FONTANA E., SGRO' V., COLAMARIA V., ELIA M.   +4 more
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An Unusual Masquerader of Progressive Myoclonic Epilepsy

The Indian Journal of Pediatrics, 2019
Shivan Kesavan, Lokesh Saini, Priyanka Madaan, Sumeet R. Dhawan, Jitendra K. Sahu, Kirti Gupta, Paramjit Singh, Sushant Sahoo   +7 more
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Can changes in cortical excitability distinguish progressive from juvenile myoclonic epilepsy?

Epilepsia, 2010
Radwa A B Badawy, Richard A L Macdonell, Graeme D Jackson   +2 more
exaly