PARAPLEGIA SPASTICA EREDITARIA, EPILESSIA GENERALIZZATA IDIOPATICA IN DIVERSI MEMBRI DI UNA FAMIGLIA

UN NUOVO DISORDINE GENETICO

Translated title of the contribution: Hereditary spastic paraplegia, generalized idiopathic epilepsy in several members of a family: A novel genetic disorder

G. L. Gigli, M. Diomedi, G. Bernardi, M. G. Marciani, E. Calia, M. C E Maschio, G. Neri

Research output: Contribution to journalArticle

Abstract

We present a family in which an association between hereditary spastic paraplegia and generalized idiopathic epilepsy has been observed in several members of one family. The transmission of this disorder was autosomal dominant with incomplete penetrance and variable expressivity. Epilepsy was present in members of 3 of the 4 generations on which we have information. This association probably represents the pleitropic effect of a single mutant gene.

Original languageItalian
Pages (from-to)61-63
Number of pages3
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number79-80
Publication statusPublished - 1992

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Hereditary Spastic Paraplegia
Inborn Genetic Diseases
Penetrance
Epilepsy
Genes
Idiopathic Generalized Epilepsy

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

PARAPLEGIA SPASTICA EREDITARIA, EPILESSIA GENERALIZZATA IDIOPATICA IN DIVERSI MEMBRI DI UNA FAMIGLIA : UN NUOVO DISORDINE GENETICO. / Gigli, G. L.; Diomedi, M.; Bernardi, G.; Marciani, M. G.; Calia, E.; Maschio, M. C E; Neri, G.

In: Bollettino - Lega Italiana contro l'Epilessia, No. 79-80, 1992, p. 61-63.

Research output: Contribution to journalArticle

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AU - Marciani, M. G.

AU - Calia, E.

AU - Maschio, M. C E

AU - Neri, G.

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