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

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

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 journal › Article › peer-review

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 contribution	A comparative study of two Italian families with ADCME: Possible founder effect?
Original language	Italian
Pages (from-to)	191-192
Number of pages	2
Journal	Bollettino - Lega Italiana contro l'Epilessia
Issue number	136-137
Publication status	Published - May 2008

ASJC Scopus subject areas

Clinical Neurology

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Studio comparativo di due famiglie Italiane con ADCME : Possibile effetto fondatore? / Canevini, M. P.; Tinuper, P.; Marini, C.; Chifari, R.; Vignoli, A.; Chiesa, V.; Striano, P.; Bisulli, F.; Striano, S.; Guerrini, R.; Gardella, E.

In: Bollettino - Lega Italiana contro l'Epilessia, No. 136-137, 05.2008, p. 191-192.

Research output: Contribution to journal › Article › peer-review

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title = "Studio comparativo di due famiglie Italiane con ADCME: Possibile effetto fondatore?",

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.",

keywords = "ADCME, Cortical tremor, FAME",

author = "Canevini, {M. P.} and P. Tinuper and C. Marini and R. Chifari and A. Vignoli and V. Chiesa and P. Striano and F. Bisulli and S. Striano and R. Guerrini and E. Gardella",

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T2 - Possibile effetto fondatore?

AU - Canevini, M. P.

AU - Tinuper, P.

AU - Marini, C.

AU - Chifari, R.

AU - Vignoli, A.

AU - Chiesa, V.

AU - Striano, P.

AU - Bisulli, F.

AU - Striano, S.

AU - Guerrini, R.

AU - Gardella, E.

PY - 2008/5

Y1 - 2008/5

N2 - 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.

AB - 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.

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KW - Cortical tremor

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JO - Bollettino - Lega Italiana contro l'Epilessia

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SN - 0394-560X

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

Abstract

ASJC Scopus subject areas

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