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Benign familial infantile convulsions: report of a UK family and confirmation of genetic heterogeneity
  1. D BARALLE*,
  3. R BEACH,
  5. E REID*
  1. *Department of Medical Genetics, Wellcome Trust Centre for the Study of Molecular Mechanisms in Disease, University of Cambridge, Addenbrooke's Hospital, Hills Road, Cambridge CB2 2XY, UK
  2. †UK Medical Research Council Human Genome Mapping Project Resource Centre, Cambridge, UK
  3. ‡Department of Paediatrics, Norfolk and Norwich Hospital, Norwich, UK
  1. Dr Reid, ereid{at}

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Editor—Benign familial infantile convulsions (BFIC) (OMIM 601764) is a recently recognised idiopathic epilepsy syndrome originally described in families of Japanese ancestry and more recently in Italian families.1-3 It has since been reported in France, Singapore, Sweden, Germany, USA, and Argentina,4-7 but to our knowledge never in the United Kingdom. The onset of seizures in BFIC is between 3 and 12 months old, and they are mostly of a partial type, some with secondary generalisation. These seizures tend to occur in clusters over several days and remit spontaneously at about 18 months. Ictal electroencephalograms (EEG) show diffuse discharge from the centro-occipital region, although the interictal EEG is normal. The course of the disease is benign with ultimately normal psychomotor development.

There is considerable evidence that genetic factors are involved in the human epilepsies, although these genetic factors are complex and incompletely understood. One approach to understanding the molecular pathological basis of seizure disorders is to identify the genes involved in defined familial epilepsy syndromes. To date, genes for four autosomal dominant epileptic diseases have been mapped or cloned: benign familial neonatal convulsions at chromosomes 20q13 (EBN1) and 8q24 (EBN2), partial epilepsy with auditory symptoms at chromosome 10q (EPT), autosomal dominant nocturnal frontal lobe epilepsy at chromosome 20q13 (CHRNA4), andBFIC at chromosome 19q in five Italian families.6 8 Haplotype mapping suggests that theBFIC locus at 19q is likely to lie in an approximately 6 cM region between D19S49 and D19S251.6This locus has been excluded in a single large Italian BFIC family, strongly suggesting that the condition is genetically heterogeneous.9

We present a family of United Kingdom origin with BFIC. In total, five family members were affected by a seizure disorder.

The proband (case III.1, fig 1) was a male child, aged 3 …

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