myoclonic epilepsies การใช้

• Mutations in this gene are associated with familial infantile myoclonic epilepsy.
• Mental retardation, myoclonic epilepsy, spasticity, and posterior column sensory loss.
• MERRF syndrome is also known as myoclonic epilepsy with ragged-red fibers.
• She has myoclonic epilepsy, which consist of muscle jerking without loss of consciousness.
• "' Myoclonic epilepsy "'refers to a family of epilepsies that present with myoclonus.
• It is also found in MERRF ( Myoclonic Epilepsy with Ragged Red Fibers ), a rare mitochondrial encephalomyopathy.
• Dentatorubral pallidoluysian atrophy is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia.
• For example, I'm probably the only person with myoclonic epilepsy in their watchlist but may not be around.
• Removal of PTG in mice resulted in the near-complete disappearance of polyglucosans and in resolution of neurodegeneration and myoclonic epilepsy.
• If the abnormal brain wave activity is persistent and results from ongoing seizures, then a diagnosis of myoclonic epilepsy may be considered.
• Both juvenile myoclonic epilepsy and EA5 are a result of mutations in CACNB4, a gene that encodes the calcium channel ? 4 subunit.
• In my experience with myoclonic epilepsy, the class was psychology students, not neurologists, and the " expert " wasn't.
• Felbamate was the most effective for Lennox-Gastaut syndrome and was seen as a second-line agent in juvenile myoclonic epilepsy after valproate.
• Category III includes fragile X syndrome, myotonic dystrophy, two of the spinocerebellar ataxias, juvenile myoclonic epilepsy, and Friedreich's ataxia.
• Mutations in the " MT-TK " gene are associated with myoclonic epilepsy and ragged-red fiber disease ( MERRF ).
• This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia.
• In 3 affected members of a large consanguineous Moroccan family with progressive myoclonic epilepsy-3, a homozygous nonsense mutation in the KCTD7 gene ( R99X ) has been identified.
• Six specific disorders comprise the most common causes of progressive myoclonic epilepsy : dentatorubropallidoluysian atrophy ( DRPLA ); the noninfantile neuronopathic form of Gaucher disease; and atypical inclusion body disease.
• In 2 Mexican siblings with infantile onset of progressive myoclonic epilepsy and pathologic findings of neuronal ceroid lipofuscinosis in multiple cell types, a homozygous mutation in the KCTD7 gene ( R184C ) has been identified.
• Also known as Janz syndrome, juvenile myoclonic epilepsy ( JME ) is a common form of epilepsy, accounting for ~ 10 % of all cases and ~ 25 % of cases of idiopathic generalized epilepsies.