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 journalArticlepeer-review

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

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

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