Copy number variations and susceptibility to lateral temporal epilepsy: A study of 21 pedigrees

Manuela Fanciulli, Elena Pasini, Sandro Malacrida, Pasquale Striano, Salvatore Striano, Roberto Michelucci, Ruth Ottman, Carlo Nobile

Research output: Contribution to journalArticlepeer-review


Summary Objective Autosomal dominant lateral temporal epilepsy (ADLTE) is a focal epileptic syndrome characterized by auditory or aphasic auras. Mutations in the LGI1 gene account for

Methods Twenty-one families were included based on a history of focal seizures with auditory and/or receptive aphasic symptoms in two or more individuals, absence of brain abnormalities, and negative LGI1 test. DNA suitable for single nucleotide polymorphism-array analysis was genotyped using the high-density HumanOmni1-Quad v1.0 beadchip (Illumina). CNVs were inferred using the PennCNV algorithm. Selected CNVs were validated by real-time quantitative polymerase chain reaction (qPCR).

Results We analyzed 62 affected and 114 unaffected members of our study families and identified a total of 11,214 CNVs, corresponding to 1,890 unique regions with an average size of 67.3 kb. Most CNVs were

Significance Our results provide clues on genes for susceptibility to ADLTE, particularly in those families where the inheritance pattern is less compatible with autosomal dominance. Some of these genes also confer risk for other epilepsy syndromes.

Original languageEnglish
Pages (from-to)1651-1658
Number of pages8
Issue number10
Publication statusPublished - Oct 1 2014


  • Copy number variation
  • Genomics
  • Susceptibility genes
  • Temporal lobe epilepsy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Medicine(all)


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