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Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24
Childhood absence epilepsy (CAE), one of the most common epilepsies in children, is genetically and phenotypically heterogeneous. One of the genes responsible for human CAE associated with tonic-clonic seizures has been mapped to chromosome band 8q24 by genetic linkage analysis and is termed ECA1. R...
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Published in: | Epilepsy research 1999-11, Vol.37 (2), p.151-158 |
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Main Authors: | , , , , , |
Format: | Article |
Language: | English |
Subjects: | |
Citations: | Items that this one cites Items that cite this one |
Online Access: | Get full text |
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Summary: | Childhood absence epilepsy (CAE), one of the most common epilepsies in children, is genetically and phenotypically heterogeneous. One of the genes responsible for human CAE associated with tonic-clonic seizures has been mapped to chromosome band 8q24 by genetic linkage analysis and is termed
ECA1. Recently, we isolated and mapped the
JRK/JH8 gene, a human homologue of the mouse epilepsy gene,
jerky, on 8q24. The epilepsy phenotype of the mice with inactivated
jerky gene as well as its chromosomal localization proposed
JRK/JH8 as a prominent candidate for the CAE gene. To confirm whether the
JRK/JH8 gene is responsible for
ECA1, we performed mutational analyses in the coding region of
JRK/JH8 in two CAE families mapped on 8q24, using heteroduplex and direct sequencing methods. We identified seven nucleotide changes, two of which lead to amino acid substitutions. However, these changes did not co-segregate with the disease phenotype. In addition, we redefined the location of
JRK/JH8 to be more than 4 Mb distant from D8S502 and
ECA1. Thus, negative results of mutation analyses and detailed physical mapping exclude
JRK/JH8 as the
ECA1 gene. |
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ISSN: | 0920-1211 1872-6844 |
DOI: | 10.1016/S0920-1211(99)00061-3 |