Evaluation of susceptibility loci in an extended pedigree with idiopathic generalized epilepsy.
OBJECTIVE
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.
Klein
Karl Martin
KM
Interdisciplinary Epilepsy-Center, Department of Neurology, Philipps-University Marburg, Germany. klein.km@staff.uni-marburg.de
Preisig-Müller
Regina
R
Knake
Susanne
S
Hamer
Hajo M
HM
Oertel
Wolfgang H
WH
Neubauer
Bernd A
BA
Daut
Jürgen
J
Rosenow
Felix
F
D000328:Adult; D000368:Aged; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D004247:DNA / Q000235:genetics; D004569:Electroencephalography; D004829:Epilepsy, Generalized / Q000235:genetics* / Q000473:pathology*; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D009154:Mutation / Q000502:physiology; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D015222:Sodium Channels / Q000235:genetics
D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels; D004247:DNA