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NEUROLOGY 1998;51:493-498
© 1998 American Academy of Neurology

Unusual EEG pattern linked to chromosome 3p in a family with idiopathic generalized epilepsy

F. Zara, PhD, M. Labuda, PhD, P. Gaetano Garofalo, MD, C. Durisotti, MD, A. Bianchi, MD, B. Castellotti, MS, P. I. Patel, PhD, G. Avanzini, MD and M. Pandolfo, MD

From Ospedale Galliera (Dr. Zara), Genova, Italy; Centre Hospitalier de l'Université de Montréal (Drs. Labuda and Pandolfo), Montréal, Quebec, Canada; the Centro Regionale Epilessia (Drs. Garofalo and Durisotti), Ospedale Civile, Vicenza, Italy; Unità di Neurofisiopatologia (Dr. Bianchi), Arezzo, Italy; the Departments of Neurology, Human and Molecular Genetics, Human Genome Center and Division of Neuroscience, Baylor College of Medicine (Dr. Patel), Houston, TX; Istituto Nazionale Neurologico "C. Besta" (Dr. Avanzini, and B. Castellotti), Milan, Italy; the Département de Médecine (Dr. Pandolfo), Université de Montréal, and the Department of Neurology and Neurosurgery (Dr. Pandolfo), McGill University, Montréal, Quebec, Canada.

Address correspondence and reprint requests to Dr. M. Pandolfo, Centre Hospitalier de l'Université de Montréal, Centre de Recherche L.C. Simard, 1560 Sherbrooke St. East, Montreal, Quebec, H2L 4M1, Canada.

Objective: To map the gene causing an unusual EEG pattern of delta bursts that appears to segregate as an autosomal dominant trait in an Italian family. The EEG pattern was observed in four family members affected by idiopathic generalized epilepsy (IGE) and in six other clinically unaffected members.

Methods: All available family members underwent clinical and EEG examination. DNA samples were obtained and used to perform a whole-genome scan with 270 microsatellite markers. After the first linked marker was identified, 12 additional markers in the same chromosomal region were tested to confirm linkage and define a candidate interval.

Results: The gene responsible for the EEG trait was mapped to an 11-cM interval on the proximal short arm of chromosome 3 (3p14.2-p12.1).

Conclusion: In this family, a characteristic EEG activity is due to the effect of a single gene on chromosome 3p. A gene encoding a Ca2+ channel subunit maps in the interval and is a potential candidate for the trait. The clinical expression of epilepsy in four family members may reflect the interaction of additional genes, though environmental or other factors cannot be excluded.

Federico Zara is supported by the Italian Telethon. Elchrom Scientific and Helixx Technologies, Inc., provided the equipment and gels to perform the analysis of tetranucleotide markers.

Received December 24, 1997. Accepted in final form April 10, 1998.






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