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Evaluation of susceptibility loci in an extended pedigree with idiopathic generalized epilepsy
Karl Martin Klein1, Regina Preisig-Müller, Susanne Knake
1Interdisciplinary Epilepsy-Center, Department of Neurology, Philipps-University Marburg, Germany. klein.km@staff.uni-marburg.de
Purpose:
Evaluation of the loci 2q36, 3q26, 5q34 and 14q23 in a German family with autosomal dominant idiopathic generalized epilepsy (IGE).
Methods:
A linkage analysis was performed including 10 family members (six affected, three unaffected, one probably affected), for the loci 2q36, 3q26, 5q34 and 14q23. Subsequently, a sequence analysis of the inward rectifier potassium channel gene KCNJ13 at 2q37 was carried out.
Results:
Suggestive linkage for IGE was found on 2q36-37 at D2S2308 and D2S2193. No mutations were identified in the coding or 5'-non-coding regions of the exons of candidate gene KCNJ13.
Conclusions:
Our results corroborate former linkage findings on 2q36-2q37 and warrant further investigation of additional candidate genes within this chromosomal area in IGE.
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