THE GENETICS OF IDIOPATHIC GENERALIZED EPILEPSIES OF ADOLESCENT ONSET- DIFFERENCES BETWEEN JUVENILE MYOCLONIC EPILEPSY AND EPILEPSY WITH RANDOM GRAND-MAL AND WITH AWAKENING GRAND-MAL
Da. Greenberg et al., THE GENETICS OF IDIOPATHIC GENERALIZED EPILEPSIES OF ADOLESCENT ONSET- DIFFERENCES BETWEEN JUVENILE MYOCLONIC EPILEPSY AND EPILEPSY WITH RANDOM GRAND-MAL AND WITH AWAKENING GRAND-MAL, Neurology, 45(5), 1995, pp. 942-946
Both linkage and association studies provide strong evidence that a ge
ne locus on chromosome 6 is involved in the expression of juvenile myo
clonic epilepsy (JME), an adolescent-onset form of primary idiopathic
generalized epilepsy (IGE). This epilepsy-related gene locus, designat
ed EJM-1, may also influence the expression of other forms of IGE. We
report here evidence that at least one form of epilepsy that is simila
r to JME-pure, adolescent-onset grand mal epilepsy in which the seizur
es occur at any time during waking-is not linked to the EJM-1 locus. H
owever, we also have evidence that another form of pure, adolescent-on
set grand mal that occurs on awakening is linked to the EJM-1 locus an
d may be genetically the same as JME. This work suggests that clinical
ly similar epileptic syndromes may have different genetic bases and un
derscores the critical importance of careful clinical observations in
studying the genetics of the epilepsies.