Juvenile myoclonic epilepsy subsyndromes: family studies and long-term follow-up

Author： Martínez-Juárez Iris E. Alonso María Elisa Medina Marco T. Durón Reyna M. Bailey Julia N. López-Ruiz Minerva Ramos-Ramírez Ricardo León Lourdes Pineda Gregorio Castroviejo Ignacio Pascual Silva Rene Mija Lizardo Perez-Gosiengfiao Katerina Machado-Salas Jesús Delgado-Escueta Antonio V.

Publisher： Oxford University Press

ISSN： 1460-2156

Source： Brain, Vol.129, Iss.5, 2006-05, pp. : 1269-1280

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Abstract

The 2001 classification subcommittee of the International League Against Epilepsy (ILAE) proposed to ‘group JME, juvenile absence epilepsy, and epilepsy with tonic clonic seizures only under the sole heading of idiopathic generalized epilepsies (IGE) with variable phenotype’. The implication is that juvenile myoclonic epilepsy (JME) does not exist as the sole phenotype of family members and that it should no longer be classified by itself or considered a distinct disease entity. Although recognized as a common form of epilepsy and presumed to be a lifelong trait, a long-term follow-up of JME has not been performed. To address these two issues, we studied 257 prospectively ascertained JME patients and encountered four groups: (i) classic JME (72%), (ii) CAE (childhood absence epilepsy) evolving to JME (18%), (iii) JME with adolescent absence (7%), and (iv) JME with astatic seizures (3%). We examined clinical and EEG phenotypes of family members and assessed clinical course over a mean of 11 ± 6 years and as long as 52 years. Forty per cent of JME families had JME as their sole clinical phenotype. Amongst relatives of classic JME families, JME was most common (40%) followed by grand mal (GM) only (35%). In contrast, 66% of families with CAE evolving to JME expressed the various phenotypes of IGE in family members. Absence seizures were more common in family members of CAE evolving to JME than in those of classic JME families (P < 0.001).="" female="" preponderance,="" maternal="" transmission="" and="" poor="" response="" to="" treatment="" further="" characterized="" cae="" evolving="" to="" jme.="" only="" 7%="" of="" those="" with="" cae="" evolving="" to="" jme="" were="" seizure-free="" compared="" with="" 58%="" of="" those="" with="" classic="" jme="">P < 0.001),="" 56%="" with="" jme="" plus="" adolescent="" pyknoleptic="" absence="" and="" 62%="" with="" jme="" plus="" astatic="" seizures.="" long-term="" follow-up="" (1–40="" years="" for="" classic="" jme;="" 5–52="" years="" for="" cae="" evolving="" to="" jme,="" 5–26="" years="" for="" jme="" with="" adolescent="" absence="" and="" 3–18="" years="" for="" jme="" with="" astatic="" seizures)="" indicates="" that="" all="" subsyndromes="" are="" chronic="" and="" perhaps="" lifelong.="" seven="" chromosome="" loci,="" three="" epilepsy-causing="" mutations="" and="" two="" genes="" with="" single="" nucleotide="" polymorphisms="" (snps)="" associating="" with="" jme="" reported="" in="" literature="" provide="" further="" evidence="" for="" jme="" as="" a="" distinct="" group="" of="" diseases.="">