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This Article Figures Only Full Text Full Text (PDF) Data Supplement All Versions of this Article: 01.wnl.0000262764.78511.17v1 68/23/1995    most recent Correspondence: Submit a response Correspondence: View responses Alert me when this article is cited Alert me when Correspondence are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Deprez, L. Articles by De Jonghe, P. Search for Related Content PubMed PubMed Citation Articles by Deprez, L. Articles by De Jonghe, P. Related Collections Migraine All Epilepsy/Seizures Genetic linkage

Familial occipitotemporal lobe epilepsy and migraine with visual aura

Linkage to chromosome 9q

From the Neurogenetics Group (L.D., K.G.C., L.R.F.C., A.S., D.A., T.V.D., P.D.) and Applied Molecular Genomics Group (D.G., J.D.), Department of Molecular Genetics, VIB; Laboratory of Neurogenetics (L.D., K.G.C., L.R.F.C., A.S., D.A., T.V.D., P.D.), Institute Born-Bunge; University of Antwerp (L.D., L.R.F.C., A.S., D.A., T.V.D., D.G., J.D., P.D.), Antwerpen; Department of Neurology (K.P., W.V.P.), University Hospital Gasthuisberg, Katholieke Universiteit Leuven; and Division of Neurology (K.G.C., P.D.), University Hospital of Antwerp, Antwerpen, Belgium.

Address correspondence and reprint requests to Prof. Dr. P. De Jonghe, VIB—Department of Molecular Genetics, Neurogenetics Research Group, University of Antwerp—CDE, Universiteitsplein 1, BE-2610 Antwerpen, Belgium peter.dejonghe{at}ua.ac.be

Objective: To map the disease-causing locus in a large Belgian family with occipitotemporal lobe epilepsy associated with migraine with visual aura and to describe the clinical, electrophysiologic, and imaging characteristics.

Methods: DNA samples from 21 family members were obtained and an 8 cM density genome-wide scan was performed. The authors interviewed 21 individuals and performed interictal EEG in 14 and brain MRI in 13 individuals.

Results: Nine at risk family members and one deceased individual had epilepsy with occipital and temporal lobe symptomatology, variable age at onset, usually good prognosis, no epileptic EEG features, and normal brain MRI. Five of the 10 patients had a history of migraine with aura (p = 0.0026). Seizures and migraine attacks occurred as separate episodes in all but one patient. Three patients described light flashes both as epileptic and migraine aura. Epilepsy and migraine started at the same age in three patients and remitted simultaneously in two. The epileptic phenotype had a dominant mode of inheritance with a reduced penetrance of 75%. A conclusive two-point lod score of 3.3 was obtained for marker D9S257 at recombination fraction zero. Haplotype analysis defined a candidate region of 9.95 cM (5.96 Mb) between markers GATA152H04 and D9S253 located at chromosome 9q21-q22 based upon recombinations in affected individuals.

Conclusions: The clinical association in this family of occipitotemporal lobe epilepsy and migraine with visual aura and the conclusive linkage of the occipitotemporal lobe epilepsy/migraine with aura trait to a single locus suggests a common monogenic gene defect.

Editorial, see page 1969

Supplemental data at www.neurology.org

This article was previously published in electronic format as an Expedited E-Pub on April 25, 2007, at www.neurology.org.

*These authors contributed equally to this work.

This research was funded by the Fund for Scientific Research Flanders (FWO), University of Antwerp and the Interuniversity Attraction Poles (IUAP) program P5/19 of the Belgian Science Policy Office (BELSPO). L.R.F.C. and D.A. are funded by the Fund for Scientific Research Flanders (FWO-F), Belgium.

Disclosure: The authors report no conflicts of interest.

Received November 1, 2006. Accepted in final form February 23, 2007.

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