Copy number variants and epilepsy: New emerging syndromes

Antonietta Coppola; Maurizio Elia

doi:10.1007/978-3-319-12283-0_1

Copy number variants and epilepsy: New emerging syndromes

Antonietta Coppola, Maurizio Elia

www.irccs.oasi.en.it

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Abstract

In the last 10 years, advances in the genetic techniques including oligonucleotide array and the following large scale studies have yielded to the identification of recurrent copy number variants (CNVs) associated with epilepsy. Among these a small number has been increasingly reported in association with a distinct epileptic phenotype, delineating emerging epileptic syndromes. To date, none of these CNVs underlying a specific epileptic condition has been included in the ILAE Classification of the Epileptic Syndromes as a distinct form. However once the features and prognosis of these conditions have been completely delineated a proposal for new epileptic syndromes should be considered.

Original language	English
Title of host publication	Epilepsy Towards the Next Decade: New Trends and Hopes in Epileptology
Publisher	Springer International Publishing
Pages	1-14
Number of pages	14
ISBN (Print)	9783319122830, 9783319122823
DOIs	https://doi.org/10.1007/978-3-319-12283-0_1
Publication status	Published - Jan 1 2015

ASJC Scopus subject areas

Medicine(all)
Neuroscience(all)
Psychology(all)

Access to Document

10.1007/978-3-319-12283-0_1

Cite this

@inbook{c1a949a510054f00bd6959f5e200d863,

title = "Copy number variants and epilepsy: New emerging syndromes",

abstract = "In the last 10 years, advances in the genetic techniques including oligonucleotide array and the following large scale studies have yielded to the identification of recurrent copy number variants (CNVs) associated with epilepsy. Among these a small number has been increasingly reported in association with a distinct epileptic phenotype, delineating emerging epileptic syndromes. To date, none of these CNVs underlying a specific epileptic condition has been included in the ILAE Classification of the Epileptic Syndromes as a distinct form. However once the features and prognosis of these conditions have been completely delineated a proposal for new epileptic syndromes should be considered.",

author = "Antonietta Coppola and Maurizio Elia",

year = "2015",

month = jan,

day = "1",

doi = "10.1007/978-3-319-12283-0_1",

language = "English",

isbn = "9783319122830",

pages = "1--14",

booktitle = "Epilepsy Towards the Next Decade: New Trends and Hopes in Epileptology",

publisher = "Springer International Publishing",

}

TY - CHAP

T1 - Copy number variants and epilepsy

T2 - New emerging syndromes

AU - Coppola, Antonietta

AU - Elia, Maurizio

PY - 2015/1/1

Y1 - 2015/1/1

N2 - In the last 10 years, advances in the genetic techniques including oligonucleotide array and the following large scale studies have yielded to the identification of recurrent copy number variants (CNVs) associated with epilepsy. Among these a small number has been increasingly reported in association with a distinct epileptic phenotype, delineating emerging epileptic syndromes. To date, none of these CNVs underlying a specific epileptic condition has been included in the ILAE Classification of the Epileptic Syndromes as a distinct form. However once the features and prognosis of these conditions have been completely delineated a proposal for new epileptic syndromes should be considered.

AB - In the last 10 years, advances in the genetic techniques including oligonucleotide array and the following large scale studies have yielded to the identification of recurrent copy number variants (CNVs) associated with epilepsy. Among these a small number has been increasingly reported in association with a distinct epileptic phenotype, delineating emerging epileptic syndromes. To date, none of these CNVs underlying a specific epileptic condition has been included in the ILAE Classification of the Epileptic Syndromes as a distinct form. However once the features and prognosis of these conditions have been completely delineated a proposal for new epileptic syndromes should be considered.

UR - http://www.scopus.com/inward/record.url?scp=84943390266&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84943390266&partnerID=8YFLogxK

U2 - 10.1007/978-3-319-12283-0_1

DO - 10.1007/978-3-319-12283-0_1

M3 - Chapter

AN - SCOPUS:84943390266

SN - 9783319122830

SN - 9783319122823

SP - 1

EP - 14

BT - Epilepsy Towards the Next Decade: New Trends and Hopes in Epileptology

PB - Springer International Publishing

ER -

Copy number variants and epilepsy: New emerging syndromes

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this