juvenile myoclonic epilepsy การใช้

• Both juvenile myoclonic epilepsy and EA5 are a result of mutations in CACNB4, a gene that encodes the calcium channel ? 4 subunit.
• 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.
• 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.
• 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.
• Generalized seizures occur in various seizure syndromes, including myoclonic epilepsy, familial neonatal convulsions, childhood absence epilepsy, absence epilepsy, infantile spasms ( West's syndrome ), Juvenile Myoclonic Epilepsy and Lennox-Gastaut syndrome.
• Less serious examples are benign rolandic epilepsy ( 2.8 per 100, 000 ), childhood absence epilepsy ( 0.8 per 100, 000 ) and juvenile myoclonic epilepsy ( 0.7 per 100, 000 ).
• A mutation in " EFHC2 " which results in a serine to a tyrosine substitution at amino acid position 430 ( S430Y ) has been associated with juvenile myoclonic epilepsy in a male, German population . however, these findings remain controversial.
• However, lamotrigine has a broader clinical spectrum of activity than phenytoin and carbamazepine and is recognised to be protective against generalised absence epilepsy and other generalised epilepsy syndromes, including primary generalised tonic clonic seizures, juvenile myoclonic epilepsy, and Lennox-Gastaut syndrome.
• When used in the treatment of myoclonic epilepsies such as juvenile myoclonic epilepsy, lower doses ( and lower plasma levels ) are usually needed, as even moderate doses of this drug can induce seizures, including tonic-clonic seizures, which can develop into status epilepticus, which is a medical emergency.