Nature Genetics
10, 117 - 118 (1995)
doi:10.1038/ng0595-117
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2H.A. Phillips1, I.E. Scheffer2, S.F. Berkovic2, G.E. Hollway1, 3, G.R. Sutherland1, 3
& J.C. Mulley1
1Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide 5006, Australia
2Departments of Neurology, Austin Hospital Heidelberg (Melbourne), and University of Melbourne, and Royal Children's Hospital, Melbourne, Australia
3Department of Paediatrics, University of Adelaide, Adelaide, Australia Correspondence should be addressed to J.C.M. The epilepsies comprise a group of syndromes that are divided into generalized and partial (focal) types1. Familial occurrence has long been recognized but progress in mapping epilepsy genes has been slow except for rare cases where the inheritance is easily determined from classical genetic studies. Linkage is established for three generalized syndromes: the EBN1 and EBN2 genes for benign familial neonatal convulsions (BFNC) map to chromosomes 20q and 8q(refs2−5),theEPM1 gene for Unverricht-Lundborg disease maps to 21 q (ref. 6) and the gene for the northern epilepsy syndrome maps to 8p (ref. 7). A claim for linkage of the EJM1 gene for the common generalized syndrome of juvenile myoclonic epilepsy to 6p is currently in dispute8,9. Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) was recently described infivefamilies10,11. We now report the chromosomal assignment, to 20q13.2, for the gene for ADNFLE in one large Australian kindred with 27 affected individuals spanning six generations.
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