Submikroskopiske kromosomforandringer disponerer til epilepsi

Translated title of the contribution: [Submicroscopic chromosomal changes predispose to generalised epilepsy]

Research output: Contribution to journalJournal articleResearchpeer-review

Abstract

Idiopathic generalised epilepsies (IGEs) affect up to 0.3% of the general population. Genetic factors play a predominant role in the aetiology of IGEs. Molecular genetic studies have mainly identified causative gene mutations in rare monogenic forms of idiopathic epilepsies. However, the genetic variants predisposing to common IGE syndromes remain elusive. Identification of recurrent microdeletions at 1q21.1, 15q11.2, 15q13.3, 16p11.2, 16p13.11 and 22q11.2 as rare but significant risk factors for IGE has provided new insights into the complex genetic predisposition of common epilepsies.
Original languageDanish
JournalUgeskrift for Laeger
Volume173
Issue number16-17
Pages (from-to)1201-4
Number of pages4
ISSN0041-5782
Publication statusPublished - 2011

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Mutation
Idiopathic Generalized Epilepsy
Population
1.35-Mb Chromosome 1q21.1 Deletion Syndrome

Cite this

@article{6dfadaf3a31242fab850fae0b1454599,
title = "Submikroskopiske kromosomforandringer disponerer til epilepsi",
abstract = "Idiopathic generalised epilepsies (IGEs) affect up to 0.3{\%} of the general population. Genetic factors play a predominant role in the aetiology of IGEs. Molecular genetic studies have mainly identified causative gene mutations in rare monogenic forms of idiopathic epilepsies. However, the genetic variants predisposing to common IGE syndromes remain elusive. Identification of recurrent microdeletions at 1q21.1, 15q11.2, 15q13.3, 16p11.2, 16p13.11 and 22q11.2 as rare but significant risk factors for IGE has provided new insights into the complex genetic predisposition of common epilepsies.",
keywords = "Chromosome Deletion, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 16, Chromosomes, Human, Pair 22, Epilepsy, Generalized, Genetic Predisposition to Disease, Humans, Meiosis",
author = "M{\o}ller, {Rikke Steensbjerre} and Helle Hjalgrim",
year = "2011",
language = "Dansk",
volume = "173",
pages = "1201--4",
journal = "Ugeskrift for Laeger",
issn = "0041-5782",
publisher = "Almindelige Danske Laegeforening",
number = "16-17",

}

Submikroskopiske kromosomforandringer disponerer til epilepsi. / Møller, Rikke Steensbjerre; Hjalgrim, Helle.

In: Ugeskrift for Laeger, Vol. 173, No. 16-17, 2011, p. 1201-4.

Research output: Contribution to journalJournal articleResearchpeer-review

TY - JOUR

T1 - Submikroskopiske kromosomforandringer disponerer til epilepsi

AU - Møller, Rikke Steensbjerre

AU - Hjalgrim, Helle

PY - 2011

Y1 - 2011

N2 - Idiopathic generalised epilepsies (IGEs) affect up to 0.3% of the general population. Genetic factors play a predominant role in the aetiology of IGEs. Molecular genetic studies have mainly identified causative gene mutations in rare monogenic forms of idiopathic epilepsies. However, the genetic variants predisposing to common IGE syndromes remain elusive. Identification of recurrent microdeletions at 1q21.1, 15q11.2, 15q13.3, 16p11.2, 16p13.11 and 22q11.2 as rare but significant risk factors for IGE has provided new insights into the complex genetic predisposition of common epilepsies.

AB - Idiopathic generalised epilepsies (IGEs) affect up to 0.3% of the general population. Genetic factors play a predominant role in the aetiology of IGEs. Molecular genetic studies have mainly identified causative gene mutations in rare monogenic forms of idiopathic epilepsies. However, the genetic variants predisposing to common IGE syndromes remain elusive. Identification of recurrent microdeletions at 1q21.1, 15q11.2, 15q13.3, 16p11.2, 16p13.11 and 22q11.2 as rare but significant risk factors for IGE has provided new insights into the complex genetic predisposition of common epilepsies.

KW - Chromosome Deletion

KW - Chromosomes, Human, Pair 1

KW - Chromosomes, Human, Pair 15

KW - Chromosomes, Human, Pair 16

KW - Chromosomes, Human, Pair 22

KW - Epilepsy, Generalized

KW - Genetic Predisposition to Disease

KW - Humans

KW - Meiosis

M3 - Tidsskriftartikel

VL - 173

SP - 1201

EP - 1204

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

SN - 0041-5782

IS - 16-17

ER -