Benign infantile familial convulsions: Natural history of a case and clinical characteristics of a large Italian family

L. Giordano, P. Accorsi, D. Valseriati, A. Tiberti, E. Menegati, F. Zara, A. Vignoli, F. Vigevano

Research output: Contribution to journalArticlepeer-review

Abstract

We present a patient (3 months old) with partial and generalized seizures who has a family history of seizures with a onset during the first 12 months of life. We diagnosed benign infantile familial convulsions (BIFC) and we did not introduce any antiepileptic therapy. We present clinical data of her family where 18 out of 35 members were affected; to our knowledge this is the largest family with BIFC. BIFC is transmitted as an autosomal dominant trait; recently it has been reported that the gene for BIFC maps to the long arm of chromosome 19. We conducted linkage analysis in our family providing significant exclusion of linkage between the BIFC locus phenotype and chromosome 19 markers, suggesting that a second locus is involved in this family.

Original languageEnglish
Pages (from-to)99-101
Number of pages3
JournalNeuropediatrics
Volume30
Issue number2
Publication statusPublished - Apr 1999

Keywords

  • BIFC
  • Epileptic syndrome
  • Infant
  • Linkage analysis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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