Delezione 1p36 ed epilessia: Descrizione di due casi clinici

E. Freri; S. Binelli; S. Franceschetti; I. Moroni; T. Granata

Delezione 1p36 ed epilessia: Descrizione di due casi clinici

Translated title of the contribution: 1p36 deletion and epilepsy: Description of two clinical cases

E. Freri, S. Binelli, S. Franceschetti, I. Moroni, T. Granata

Fondazione IRCCS Istituto Neurologico "C. Besta"

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

Abstract

Monosomy 1p36 is one of the most common subtelomeric microdeletion syndrome with an estimated incidence of 1:5,000 to 1:10,000 newborns. Epilepsy is reported in about 50-70% of cases, with onset of seizures in the first year of life. We report two patients with subtle deletion within 1p36 confirmed by FISH analysis, who referred to our observation for seizures in the first months of life.

Translated title of the contribution	1p36 deletion and epilepsy: Description of two clinical cases
Original language	Italian
Pages (from-to)	161-162
Number of pages	2
Journal	Bollettino - Lega Italiana contro l'Epilessia
Issue number	129-130
Publication status	Published - 2005

ASJC Scopus subject areas

Clinical Neurology

Cite this

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title = "Delezione 1p36 ed epilessia: Descrizione di due casi clinici",

abstract = "Monosomy 1p36 is one of the most common subtelomeric microdeletion syndrome with an estimated incidence of 1:5,000 to 1:10,000 newborns. Epilepsy is reported in about 50-70% of cases, with onset of seizures in the first year of life. We report two patients with subtle deletion within 1p36 confirmed by FISH analysis, who referred to our observation for seizures in the first months of life.",

keywords = "Epilepsy, Monosomy 1p36, Subtelomeric rearrangement",

author = "E. Freri and S. Binelli and S. Franceschetti and I. Moroni and T. Granata",

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language = "Italian",

pages = "161--162",

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T1 - Delezione 1p36 ed epilessia

T2 - Descrizione di due casi clinici

AU - Freri, E.

AU - Binelli, S.

AU - Franceschetti, S.

AU - Moroni, I.

AU - Granata, T.

PY - 2005

Y1 - 2005

N2 - Monosomy 1p36 is one of the most common subtelomeric microdeletion syndrome with an estimated incidence of 1:5,000 to 1:10,000 newborns. Epilepsy is reported in about 50-70% of cases, with onset of seizures in the first year of life. We report two patients with subtle deletion within 1p36 confirmed by FISH analysis, who referred to our observation for seizures in the first months of life.

AB - Monosomy 1p36 is one of the most common subtelomeric microdeletion syndrome with an estimated incidence of 1:5,000 to 1:10,000 newborns. Epilepsy is reported in about 50-70% of cases, with onset of seizures in the first year of life. We report two patients with subtle deletion within 1p36 confirmed by FISH analysis, who referred to our observation for seizures in the first months of life.

KW - Epilepsy

KW - Monosomy 1p36

KW - Subtelomeric rearrangement

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M3 - Articolo

AN - SCOPUS:33645226943

SN - 0394-560X

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JO - Bollettino - Lega Italiana contro l'Epilessia

JF - Bollettino - Lega Italiana contro l'Epilessia

IS - 129-130

ER -

Delezione 1p36 ed epilessia: Descrizione di due casi clinici

Abstract

ASJC Scopus subject areas

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