Results 141 to 150 of about 5,960 (193)

Myopathological Findings in Progressive Myoclonus Epilepsy

1981
8 patients with progressive myoclonic epilepsy have been studied. Muscle biopsies showed polysaccharide accumulation in branched form, mitochondrial alteration, lipid droplets and lipofucsin bodies. " Muscle Lafora bodies" were present in two cases. A peculiar muscle cytoskeleton appearance has been seen, suggesting an abnormal physico-chemical state ...
Pierobon-Bormioli S., Angelini C., Armani M., Testa G. F.   +3 more
openaire   +2 more sources

KCTD7‐related progressive myoclonus epilepsy

Epileptic Disorders, 2016
AbstractProgressive myoclonic epilepsy associated with KCTD7 mutations has been reported in 19 patients from 12 families. Patients show homozygous mutations in the coding regions of the KCTD7 gene. The disease starts in infancy. Patients typically show an initial severe epileptic disorder, with abundant epileptiform discharges on EEG and myoclonic ...
openaire   +3 more sources

Advances in the genetics of progressive myoclonus epilepsy

American Journal of Medical Genetics, 2001
AbstractThe genetic progressive myoclonus epilepsies (PMEs) are clinically characterized by the triad of stimulus sensitive myoclonus (segmental lightning like muscular jerks), epilepsy (grand mal and absences) and progressive neurologic deterioration (dementia, ataxia, and various neurologic signs depending on the cause).
Torrisi L., Sangiorgi E., Russo L., Gurrieri F.   +3 more
openaire   +3 more sources

Infant-Onset Progressive Myoclonus Epilepsy

Journal of Child Neurology, 1991
We report the clinical, electroencephalographic, neurophysiologic, and neuroimaging findings in eight children with infant-onset progressive myoclonus epilepsy, all of whom had muscle biopsies performed as part of the diagnostic evaluation. Each child had myoclonic seizures, generalized tonic-clonic seizures, and neurologic regression or marked ...
M G, Harbord, P A, Hwang, B H, Robinson, L E, Becker, A, Hunjan, E G, Murphy   +5 more
openaire   +2 more sources

The progressive myoclonus epilepsies

2014
The progressive myoclonus epilepsies (PME) are neurodegenerative diseases with prominent myoclonus and epilepsy. They are mostly, though not exclusively, diseases of children, and are mostly, though not exclusively, fatal. This review includes only those PME where more than one family has been described.
openaire   +2 more sources

Progressive myoclonus epilepsy treated with zonisamide

Neurology, 1988
Two patients with progressive myoclonus epilepsy of the Unverricht-Lundborg type and with intractable seizures in spite of standard anticonvulsant regimens were treated with zonisamide. After zonisamide therapy was initiated, both had a marked decrease in seizure frequency and significant improvement of functioning. Serum zonisamide concentrations were
T R, Henry, I E, Leppik, R J, Gumnit, M, Jacobs   +3 more
openaire   +2 more sources

Progressive Myoclonus Epilepsy

2012
Abstract Loss-of-function mutations in CSTB are the primary defect in EPM1. In CSTB mutation-negative patients, PRICKLE1 and SCARB2 should be considered for testing. Lost lysosomal association of CSTB is an important contributing factor to EPM1.
Anna-Elina Lehesjoki, Mark Gardiner
openaire   +1 more source

Lafora disease: A progressive myoclonus epilepsy

Journal of Paediatrics and Child Health, 1992
Abstract Lafora disease is a rare inborn error of metabolism resulting in storage of a polyglucosan in tissues including the brain, skin and liver. Four children are described with progressive myoclonus epilepsy and intellectual deterioration in whom this diagnosis was made.
E J, Elliott, I C, Talbot, I F, Pye, S, Hodges, P G, Swift, M S, Tanner   +5 more
openaire   +2 more sources

Cortical reactivity in progressive myoclonus epilepsy

Electroencephalography and Clinical Neurophysiology, 1994
We studied 4 patients with progressive myoclonus epilepsy (Unverricht-Lundborg disease; ULD). Somatosensory evoked fields (SEFs), auditory evoked fields (AEFs), and spontaneous activity over the somatomotor cortex were recorded with a 24-channel SQUID gradiometer.
J, Karhu, R, Hari, R, Paetau, M, Kajola, E, Mervaala   +4 more
openaire   +2 more sources

Familial progressive myoclonus epilepsies.

Acta neurologica, 1985
Clinical morphological and biochemical aspects of Familial Progressive Myoclonus Epilepsies are reported, classified into 6 main groups, according to their biochemical pathogenesis: neuronal ceroid lipofuscinosis, Lafora's disease, sialidosis, glycopeptiduria, progressive myoclonus epilepsy Unverricht-Lundborg's type, mitochondrial encephalo-neuro ...
Guazzi, G. C., Federico, A.
openaire   +2 more sources