Epilepsy

(redirected from myoclonus epilepsy)
Also found in: Dictionary, Thesaurus, Medical, Encyclopedia.
Related to myoclonus epilepsy: progressive myoclonus epilepsy

EPILEPSY, med. jur. A disease of the brain, which occurs in paroxysms, with uncertain intervals between them.
     2. These paroxysms are characterized by the loss of sensation, and convulsive motions of the muscles. When long continued and violent, this disease is very apt to end in dementia. (q.v.) It gradually destroys the memory, and impairs the intellect, and is one of the causes of an unsound mind. 8 Ves. 87. Vide Dig. 50, 16, 123; Id. 21, 1, 4, 5.

References in periodicals archive ?
Familial progressive myoclonus epilepsy: clinical and electrophysiologic observations.
Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22.
Mutations in NHLRC1 cause progressive myoclonus epilepsy. Nat.
Progressive myoclonus epilepsy occurs when a person inherits two defective copies of this gene.
A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers.
The respective disease-causative genes are as follows: CSTB , PRICKLE1 , MELF , NHLRC1 , KCTD7 , SCARB2 , PRICKLE2 , GOSR2 , KCNC1 , CERS1 , LMNB2 , and PRDM8 .[1],[2],[3],[4],[5],[6],[7],[8],[9],[10],[11],[12],[13] However, there are other neurogenetic diseases mainly characterized by myoclonus, epileptic seizures, and ataxia, such as myoclonus epilepsy and ragged red fibers, neuronal ceroid lipofuscinoses, sialidosis, dentatorubral-pallidoluysian atrophy (DRPLA), and neuronopathic Gaucher disease, while a literature also regarded these diseases as PMEs.[1] In clinic, it is difficult to make an exact diagnosis among the various forms of PMEs due to homogeneous phenotypes.
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) Science 1996;271:1731-4.
A mutation in the Golgi qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.