Partial epilepsy with prominent auditory symptoms not linked to chromosome 10q

Francesca Bisulli, Paolo Tinuper, Carla Marini, Patrizia Avoni, Gianni Carraro, Carlo Nobile

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

Autosomal dominant partial epilepsy with auditory features (ADPEAF) has been identified as a distinct genetic syndrome. Several families have been described linked to chromosome 10q24, which carries mutations in the LGI1 gene. We report a small new pedigree with partial epilepsy with auditory symptoms. We performed a detailed clinical study of the family, constructed an extended pedigree comprising 106 individuals, and obtained blood samples for genetic analysis. Individuals with seizures also underwent neurophysiological and neuroradiological investigations. Genetic analysis was performed with six microsatellite markers spanning to the critical region of chromosome 10q24. Mutation analysis of the coding sequence of LGI1 was performed in two patients. Five members of the family in generation IV had seizures. Three individuals had auditory auras, followed by generalised seizures in two and brief loss of contact in one, one had nocturnal tonic-clonic seizures with an EEG suggestive of right temporal lobe onset, and one only had febrile seizures. In addition, a deceased woman was said to have had seizures. Haplotype analysis of this region of chromosome 10q24 failed to disclose a common haplotype in affected family members and no disease-associated mutations were detected in the LGI1 gene, suggesting that this locus is not associated with the disease in our family. Our small sample with partial epilepsy with auditory symptoms, clinically resembles previously described ADPEAF families. However, the low number of patients is compatible with either autosomal dominant or other inheritance patterns. In the case of the former, the lack of segregation with 10q24 suggests that a second locus is involved in the aetiology of ADPEAF; in the latter, an epileptic syndrome also characterized by auditory features, but distinct from ADPEAF, could be transmitted in this family.

Original languageEnglish
Pages (from-to)183-187
Number of pages5
JournalEpileptic Disorders
Volume4
Issue number3
Publication statusPublished - Sep 2002

Fingerprint

Partial Epilepsy
Chromosomes
Seizures
Pedigree
Haplotypes
Mutation
Inheritance Patterns
Febrile Seizures
Temporal Lobe
Microsatellite Repeats
Genes
Sequence Analysis
Electroencephalography
Epilepsy
Autosomal Dominant Lateral Temporal Lobe Epilepsy

Keywords

  • Auditory aura
  • Chromosome 10q
  • Genetic analysis
  • Partial epilepsy

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Partial epilepsy with prominent auditory symptoms not linked to chromosome 10q. / Bisulli, Francesca; Tinuper, Paolo; Marini, Carla; Avoni, Patrizia; Carraro, Gianni; Nobile, Carlo.

In: Epileptic Disorders, Vol. 4, No. 3, 09.2002, p. 183-187.

Research output: Contribution to journalArticle

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