Mosaicismo 18p-: Aspetti clinici e neurofisiologici

L. Radice; C. Zucca; A. De Giuli; S. Franceschetti

Mosaicismo 18p-: Aspetti clinici e neurofisiologici

Translated title of the contribution: 18p- mosaicism: Clinical and neurophysiological features

L. Radice, C. Zucca, A. De Giuli, S. Franceschetti

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

Abstract

We report on a 13 months old girl with multiple anomalies on physical examination, asymmetric hypsarrhythmia with atypical spasm and partial seizures, cortical dysplasia and partial deletion of the short arm of chromosome 18 (18p-). Further investigations on similar cases may provide additional insights about the genotype/phenotype and cortical dysgenesis relationships of specific chromosome segments.

Translated title of the contribution	18p- mosaicism: Clinical and neurophysiological features
Original language	Italian
Pages (from-to)	391-392
Number of pages	2
Journal	Bollettino - Lega Italiana contro l'Epilessia
Issue number	95-96
Publication status	Published - 1996

ASJC Scopus subject areas

Clinical Neurology

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title = "Mosaicismo 18p-: Aspetti clinici e neurofisiologici",

abstract = "We report on a 13 months old girl with multiple anomalies on physical examination, asymmetric hypsarrhythmia with atypical spasm and partial seizures, cortical dysplasia and partial deletion of the short arm of chromosome 18 (18p-). Further investigations on similar cases may provide additional insights about the genotype/phenotype and cortical dysgenesis relationships of specific chromosome segments.",

keywords = "Chromosomal abnormality, Cortical dysplasia, West syndrome",

author = "L. Radice and C. Zucca and {De Giuli}, A. and S. Franceschetti",

year = "1996",

language = "Italian",

pages = "391--392",

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

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number = "95-96",

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TY - JOUR

T1 - Mosaicismo 18p-

T2 - Aspetti clinici e neurofisiologici

AU - Radice, L.

AU - Zucca, C.

AU - De Giuli, A.

AU - Franceschetti, S.

PY - 1996

Y1 - 1996

N2 - We report on a 13 months old girl with multiple anomalies on physical examination, asymmetric hypsarrhythmia with atypical spasm and partial seizures, cortical dysplasia and partial deletion of the short arm of chromosome 18 (18p-). Further investigations on similar cases may provide additional insights about the genotype/phenotype and cortical dysgenesis relationships of specific chromosome segments.

AB - We report on a 13 months old girl with multiple anomalies on physical examination, asymmetric hypsarrhythmia with atypical spasm and partial seizures, cortical dysplasia and partial deletion of the short arm of chromosome 18 (18p-). Further investigations on similar cases may provide additional insights about the genotype/phenotype and cortical dysgenesis relationships of specific chromosome segments.

KW - Chromosomal abnormality

KW - Cortical dysplasia

KW - West syndrome

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M3 - Articolo

AN - SCOPUS:0030410942

SP - 391

EP - 392

JO - Bollettino - Lega Italiana contro l'Epilessia

JF - Bollettino - Lega Italiana contro l'Epilessia

SN - 0394-560X

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