Title: Diagnostic value of computerized EMG analysis in assessment of peripheral neuropathy lesion degree
Abstract: Three nonion channel genes cause two different adolescent myoclonic epilepsies and solve two mysteries of brain biochemistry and clinical epileptology: Why is glycogen absent in neurons in contrast to other cells of the human body? Why do patients with juvenile myoclonic epilepsy (JME), classified as idiopathic, have areas of brain cortex thicker than normal? The first two genes, Laforin (dual specificity phosphatase) and Malin (E3 ubiquitin ligase), working in concert, purge neurons of glycogen and polyglucosan inclusions by polyubiquitination and proteasome-dependent degradation; thus, there is no glycogen in nerve cells. Mutations in Laforin or Malin, when inherited as a recessive gene, cause insoluble glycogen (polyglucosan) to accumulate in nerve cells, cause cell death, produce stimulus-sensitive myoclonias, grand mal and absence seizures, rapid neurologic deterioration and death. The third nonion channel gene, Myoclonin/EFHC1, causes chronic and lifelong adolescent onset juvenile myoclonic epilepsy. Myoclonin/EFHC1, a developmental gene, prunes branches and leaves of dendrites and modulates dendritic R-type voltage-dependent calcium channels (VDCC). Mutations in Myoclonin/EFHC1, when inherited as a dominant trait, reduce its pruning functions, cause thicker brain cortex, and at the same time alter dendritic R-type VDCC functions, producing myoclonias and grand mal seizures. Unlike fatal Lafora epilepsy, JME has a good prognosis and responds to antiepileptic drugs that work on VDCC.
Publication Year: 1985
Publication Date: 1985-09-01
Language: en
Type: article
Indexed In: ['crossref']
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