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

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

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

Fondazione IRCCS Istituto Neurologico "C. Besta"

Research output: Contribution to journal › Article › peer-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 contribution	Childhood absence epilepsy with eyelid myoclonia: A syndromic subform
Original language	Italian
Pages (from-to)	293-296
Number of pages	4
Journal	Bollettino - Lega Italiana contro l'Epilessia
Issue number	86-87
Publication status	Published - 1994

ASJC Scopus subject areas

Clinical Neurology

Cite this

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title = "L'EPILESSIA CON ASSENZE DELL'INFANZIA CON MIOCLONIE PALPEBRALI: UNA SOTTOFORMA SINDROMICA",

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.",

author = "A. Bianchi and G. Avanzini and S. Binelli and D. Buti and G. Buzzi and C. Cianchetti and {De Marco}, P. and P. Giovanardi-Rossi and A. Pameggiani and D. Pruna and M. Rota",

year = "1994",

language = "Italian",

pages = "293--296",

journal = "Bollettino - Lega Italiana contro l'Epilessia",

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T1 - L'EPILESSIA CON ASSENZE DELL'INFANZIA CON MIOCLONIE PALPEBRALI

T2 - UNA SOTTOFORMA SINDROMICA

AU - Bianchi, A.

AU - Avanzini, G.

AU - Binelli, S.

AU - Buti, D.

AU - Buzzi, G.

AU - Cianchetti, C.

AU - De Marco, P.

AU - Giovanardi-Rossi, P.

AU - Pameggiani, A.

AU - Pruna, D.

AU - Rota, M.

PY - 1994

Y1 - 1994

N2 - 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.

AB - 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.

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JO - Bollettino - Lega Italiana contro l'Epilessia

JF - Bollettino - Lega Italiana contro l'Epilessia

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

Abstract

ASJC Scopus subject areas

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