TY - JOUR
T1 - The genetics of idiopathic generalized epilepsies of adolescent onset
T2 - Differences between juvenile myoclonic epilepsy and epilepsy with random grand mal and with awakening grand mal
AU - Greenberg, David A.
AU - Durner, M.
AU - Resor, D.
AU - Rosenbaum, D.
AU - Shinnar, S.
PY - 1995/5
Y1 - 1995/5
N2 - Both linkage and association studies provide strong evidence that a gene locuson chromosome6 is involved in the expression of juvenile myoclonic epilepsy (JME), an adolescent-onset form of primary idiopathic generalized epilepsy (IGE). This epilepsy-related gene locus, designated T=“I”EJM-1, mayalso influencethe expression of other forms of IGE. We report here evidence that at least one form of epilepsy that is similar to JME— pure, adolescent-onset grand mal epilepsy in which the seizures occur at any time during waking— is not linked to the E T="I"EJM-1 locus. However, we also have evidence that anotherform of pure, adolescent-onset grand mal that occurs E T="I"on awakening is linked to the T="I"EJM-1/locus andmay be genetically the same as JME. This work suggests that clinically similar epileptic syndromes may havedifferent genetic bases and underscores the critical importance of careful clinical observations in studying the genetics of the epilepsies.
AB - Both linkage and association studies provide strong evidence that a gene locuson chromosome6 is involved in the expression of juvenile myoclonic epilepsy (JME), an adolescent-onset form of primary idiopathic generalized epilepsy (IGE). This epilepsy-related gene locus, designated T=“I”EJM-1, mayalso influencethe expression of other forms of IGE. We report here evidence that at least one form of epilepsy that is similar to JME— pure, adolescent-onset grand mal epilepsy in which the seizures occur at any time during waking— is not linked to the E T="I"EJM-1 locus. However, we also have evidence that anotherform of pure, adolescent-onset grand mal that occurs E T="I"on awakening is linked to the T="I"EJM-1/locus andmay be genetically the same as JME. This work suggests that clinically similar epileptic syndromes may havedifferent genetic bases and underscores the critical importance of careful clinical observations in studying the genetics of the epilepsies.
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U2 - 10.1212/WNL.45.5.942
DO - 10.1212/WNL.45.5.942
M3 - Article
C2 - 7746411
AN - SCOPUS:0029041041
SN - 0028-3878
VL - 45
SP - 942
EP - 946
JO - Neurology
JF - Neurology
IS - 5
ER -