Studio comparativo di due famiglie Italiane con ADCME: Possibile effetto fondatore?

Translated title of the contribution: A comparative study of two Italian families with ADCME: Possible founder effect?

M. P. Canevini, P. Tinuper, C. Marini, R. Chifari, A. Vignoli, V. Chiesa, P. Striano, F. Bisulli, S. Striano, R. Guerrini, E. Gardella

Research output: Contribution to journalArticle

Abstract

We reviewed the clinical-neurophysiologic characteristics of 53 patients of two families affected by myoclonic tremor, photosensitivity and epilepsy. Eight family members (3 of family A and 5 of family B) presented "tremulous arousals" in their early infancy. The clinical-neurophysiologic phenotypic expression of the disease was extremely homogeneous among members of the two families. Moreover, both families originated from a small geographic region of southern Italy. Strictly from the clinical point of view, we propose the hypothesis of a founder effect at least for a part of the Italian cases of ADCME. This consideration could stimulate to intensify the efforts for further genetic investigations.

Translated title of the contributionA comparative study of two Italian families with ADCME: Possible founder effect?
Original languageItalian
Pages (from-to)191-192
Number of pages2
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number136-137
Publication statusPublished - May 2008

ASJC Scopus subject areas

  • Clinical Neurology

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    Canevini, M. P., Tinuper, P., Marini, C., Chifari, R., Vignoli, A., Chiesa, V., Striano, P., Bisulli, F., Striano, S., Guerrini, R., & Gardella, E. (2008). Studio comparativo di due famiglie Italiane con ADCME: Possibile effetto fondatore? Bollettino - Lega Italiana contro l'Epilessia, (136-137), 191-192.