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. 1999 Nov;65(5):1396-400.
doi: 10.1086/302621.

Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33

B Moulard  1 , M Guipponi, D Chaigne, D Mouthon, C Buresi, A Malafosse
Affiliations

Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33

B Moulard et al. Am J Hum Genet. 1999 Nov.

Abstract

We report the identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+). Six family members manifested isolated typical febrile seizures (FS), and five had typical FS associated with generalized epilepsy (FS+, generalized tonic/clonic seizures). Afebrile seizures occurred from childhood until the teenage years. The maximum two-point LOD score was 3.99 for markers D2S294 and D2S2314. Flanking markers place the GEFS+ locus between D2S141 and D2S116, with multipoint analysis favoring the 13-cM interval spanned by D2S294 and D2S364. This locus is the second GEFS+ locus to be reported, which suggests that this syndrome is genetically heterogeneous.

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Figures

Figure 1
Figure 1
Pedigree of French GEFS+ family showing haplotype analysis for 13 markers on chromosome 2q. Markers are listed top to bottom from centromere to telomere. For each marker, the alleles are numbered on the basis of sizes reported on CEPH families (Généthon). Novel alleles were assigned numbers after the last reported in the Généthon database. Circles denote females, squares denote males, a slashed symbol denotes a deceased subject, blackened symbols denote GEFS+ patients, half-blackened symbols denote isolated FS patients, a question mark (?) denotes possible seizures reported by relatives (no medical records), a bracketed subject denotes an adopted child, and bracketed allele numbers denote deduced alleles. The boldfaced bars represent the GEFS+ haplotype. An arrow indicates the proband.
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References

Electronic-Database Information

    1. Généthon, http://www.genethon.fr
    1. Genome Database, http://gdbwww.gdb.org
    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim (for FS [MIM 601087], IGE [MIM 600669], and sodium-channel β1-subunit gene [MIM 600235])

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