L'EPILESSIA CON ASSENZE DELL'INFANZIA CON MIOCLONIE PALPEBRALI: UNA SOTTOFORMA SINDROMICA

Translated title of the contribution: Childhood absence epilepsy with eyelid myoclonia: A syndromic subform

A. Bianchi, G. Avanzini, S. Binelli, D. Buti, G. Buzzi, C. Cianchetti, P. De Marco, P. Giovanardi-Rossi, A. Pameggiani, D. Pruna, M. Rota

Research output: Contribution to journalArticlepeer-review

Abstract

Eyelid myoclonia with absences was described by P.M. Jeavons in 1977. We have singled out three pairs of monozygotic twins with such a specific form, four families with several cases of idiopathic epilepsy with the proband affected by this syndrome (both from the Data-bank of families and twins of the Multicentric Study of the Italian League against Epilepsy) and seven sporadic cases with this syndrome from the Epilepsy Center of Arezzo. On the basis of the clinic characterization, we conclude that Childhood absence epilepsy with eyelid myoclonia, because of the important finding of three monozygotic twins too, is an autonomous syndromic subform of epilepsy and it represents an useful model for molecular genetic studies.

Translated title of the contributionChildhood absence epilepsy with eyelid myoclonia: A syndromic subform
Original languageItalian
Pages (from-to)293-296
Number of pages4
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number86-87
Publication statusPublished - 1994

ASJC Scopus subject areas

  • Clinical Neurology

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