Article
Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families.
Epilepsia - 1 Oct 2006
Pinto Dalila, Louwaars Sandrien, Westland Birgit, Volkers Linda, de Haan Gerrit-Jan, Trenité Dorothée G A Kasteleijn-Nolst, Lindhout Dick, Koeleman Bobby P C
Abstract excerpt
PURPOSE: The EFHC1 gene, encoding a protein with a Ca(2+)-sensing EF-hand motif, is localized at 6p12 and was recently reported as mutated in six Mexican juvenile myoclonic epilepsy (JME) families linked to this region. We had previously confirmed linkage between JME and 6p11-12 in 18 Dutch families, and shown exclusionary lod scores at 6p21.3. We therefore evaluated the relevance of EFHC1 in our set of...
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