De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy

Maria Stella Vari, Monica Traverso, Tommaso Bellini, Francesca Madia, Francesca Pinto, Carlo Minetti, Pasquale Striano, Federico Zara

Research output: Contribution to journalArticle

Abstract

PURPOSE: Temporal lobe epilepsy (TLE) is the most common form of focal epilepsy and may be associated with acquired central nervous system lesions or could be genetic. Various susceptibility genes and environmental factors are believed to be involved in the aetiology of TLE, which is considered to be a heterogeneous, polygenic, and complex disorder. Rare point mutations in LGI1, DEPDC5, and RELN as well as some copy number variations (CNVs) have been reported in families with TLE patients.

METHODS: We perform a genetic analysis by Array-CGH in a patient with dysmorphic features and temporal lobe epilepsy.

RESULTS: We report a de novo duplication of the long arm of chromosome 12.

CONCLUSION: We confirm that 12q22-q23.3 is a candidate locus for familial temporal lobe epilepsy with febrile seizures and highlight the role of chromosomal rearrangements in patients with epilepsy and intellectual disability.

Original languageEnglish
Pages (from-to)80-82
Number of pages3
JournalSeizure
Volume50
DOIs
Publication statusPublished - Aug 2017

Fingerprint

Temporal Lobe Epilepsy
Chromosomes, Human, Pair 12
Febrile Seizures
Partial Epilepsy
Point Mutation
Intellectual Disability
Epilepsy
Central Nervous System
Genes

Keywords

  • Abnormalities, Multiple
  • Child, Preschool
  • Chromosome Duplication
  • Chromosomes, Human, Pair 12
  • Electroencephalography
  • Epilepsy, Temporal Lobe
  • Female
  • Humans
  • Oligonucleotide Array Sequence Analysis
  • Case Reports
  • Journal Article

Cite this

De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy. / Vari, Maria Stella; Traverso, Monica; Bellini, Tommaso; Madia, Francesca; Pinto, Francesca; Minetti, Carlo; Striano, Pasquale; Zara, Federico.

In: Seizure, Vol. 50, 08.2017, p. 80-82.

Research output: Contribution to journalArticle

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abstract = "PURPOSE: Temporal lobe epilepsy (TLE) is the most common form of focal epilepsy and may be associated with acquired central nervous system lesions or could be genetic. Various susceptibility genes and environmental factors are believed to be involved in the aetiology of TLE, which is considered to be a heterogeneous, polygenic, and complex disorder. Rare point mutations in LGI1, DEPDC5, and RELN as well as some copy number variations (CNVs) have been reported in families with TLE patients.METHODS: We perform a genetic analysis by Array-CGH in a patient with dysmorphic features and temporal lobe epilepsy.RESULTS: We report a de novo duplication of the long arm of chromosome 12.CONCLUSION: We confirm that 12q22-q23.3 is a candidate locus for familial temporal lobe epilepsy with febrile seizures and highlight the role of chromosomal rearrangements in patients with epilepsy and intellectual disability.",
keywords = "Abnormalities, Multiple, Child, Preschool, Chromosome Duplication, Chromosomes, Human, Pair 12, Electroencephalography, Epilepsy, Temporal Lobe, Female, Humans, Oligonucleotide Array Sequence Analysis, Case Reports, Journal Article",
author = "Vari, {Maria Stella} and Monica Traverso and Tommaso Bellini and Francesca Madia and Francesca Pinto and Carlo Minetti and Pasquale Striano and Federico Zara",
note = "Copyright {\circledC} 2017 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.",
year = "2017",
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T1 - De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy

AU - Vari, Maria Stella

AU - Traverso, Monica

AU - Bellini, Tommaso

AU - Madia, Francesca

AU - Pinto, Francesca

AU - Minetti, Carlo

AU - Striano, Pasquale

AU - Zara, Federico

N1 - Copyright © 2017 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

PY - 2017/8

Y1 - 2017/8

N2 - PURPOSE: Temporal lobe epilepsy (TLE) is the most common form of focal epilepsy and may be associated with acquired central nervous system lesions or could be genetic. Various susceptibility genes and environmental factors are believed to be involved in the aetiology of TLE, which is considered to be a heterogeneous, polygenic, and complex disorder. Rare point mutations in LGI1, DEPDC5, and RELN as well as some copy number variations (CNVs) have been reported in families with TLE patients.METHODS: We perform a genetic analysis by Array-CGH in a patient with dysmorphic features and temporal lobe epilepsy.RESULTS: We report a de novo duplication of the long arm of chromosome 12.CONCLUSION: We confirm that 12q22-q23.3 is a candidate locus for familial temporal lobe epilepsy with febrile seizures and highlight the role of chromosomal rearrangements in patients with epilepsy and intellectual disability.

AB - PURPOSE: Temporal lobe epilepsy (TLE) is the most common form of focal epilepsy and may be associated with acquired central nervous system lesions or could be genetic. Various susceptibility genes and environmental factors are believed to be involved in the aetiology of TLE, which is considered to be a heterogeneous, polygenic, and complex disorder. Rare point mutations in LGI1, DEPDC5, and RELN as well as some copy number variations (CNVs) have been reported in families with TLE patients.METHODS: We perform a genetic analysis by Array-CGH in a patient with dysmorphic features and temporal lobe epilepsy.RESULTS: We report a de novo duplication of the long arm of chromosome 12.CONCLUSION: We confirm that 12q22-q23.3 is a candidate locus for familial temporal lobe epilepsy with febrile seizures and highlight the role of chromosomal rearrangements in patients with epilepsy and intellectual disability.

KW - Abnormalities, Multiple

KW - Child, Preschool

KW - Chromosome Duplication

KW - Chromosomes, Human, Pair 12

KW - Electroencephalography

KW - Epilepsy, Temporal Lobe

KW - Female

KW - Humans

KW - Oligonucleotide Array Sequence Analysis

KW - Case Reports

KW - Journal Article

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DO - 10.1016/j.seizure.2017.06.011

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VL - 50

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JO - Seizure : the journal of the British Epilepsy Association

JF - Seizure : the journal of the British Epilepsy Association

SN - 1059-1311

ER -