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https://hdl.handle.net/10495/32973| Título : | Segregation of a haplotype encompassing FEB1 with genetic epilepsy with febrile seizures plus in a Colombian family |
| Autor : | Caro Gómez, María Antonieta Carrizosa Moog, Jaime Tejada Moreno, Johanna Alexandra Cabrera Hemer, Dagoberto Nicanor Bedoya Berrío, Gabriel de Jesús Ruiz Linares, Andrés Franco, Andrés Gómez Castillo, Christhian Cornejo Ochoa, José William Pineda Trujillo, Nicolás Guillermo |
| metadata.dc.subject.*: | Preescolar Child, Preschool Cromosomas Humanos Par 8 Chromosomes, Human, Pair 8 Epilepsia Generalizada Epilepsy, Generalized Predisposición Genética a la Enfermedad Genetic Predisposition to Disease Haplotipos Haplotypes Escala de Lod Lod Score Convulsiones Febriles Seizures, Febrile Repeticiones de Microsatélite - genética Microsatellite Repeats - genetics Niños Children Autosomal dominant epilepsy with febrile seizures plus FEB1 |
| Fecha de publicación : | 2013 |
| Editorial : | John Libbey Eurotext |
| Citación : | Caro-Gomez MA, Carrizosa J, Moreno JT, Cabrera D, Bedoya G, Ruiz-Linares A, Franco A, Gomez-Castillo C, Cornejo W, Pineda-Trujillo N. Segregation of a haplotype encompassing FEB1 with genetic epilepsy with febrile seizures plus in a Colombian family. Epileptic Disord. 2013 Jun;15(2):128-31. doi: 10.1684/epd.2013.0570. |
| Resumen : | ABSTRACT: Febrile seizures and epilepsy are believed to be linked and some forms of epilepsy are associated with a history of febrile seizures (FS). Linkage analysis to seven known loci for FS and/or genetic epilepsy with febrile seizures plus (GEFS plus) was performed in a small Colombian family. Short tandem repeat (STR) markers were genotyped and two-point linkage analysis and haplotype reconstruction were conducted. A maximum LOD score of 0.75 at marker D8S533 for FEB1 at a recombination fraction ( ) of 0 and a segregating haplotype were identified. FEB1 was the first locus to be associated with FS and this is the second report to describe this association. Two genes in this region, CRH and DEPDC2, are good putative candidate genes that may play a role in FS and/or GEFS plus. |
| metadata.dc.identifier.eissn: | 1950-6945 |
| ISSN : | 1294-9361 |
| metadata.dc.identifier.doi: | 10.1684/epd.2013.0570 |
| Aparece en las colecciones: | Artículos de Revista en Ciencias Médicas |
Ficheros en este ítem:
| Fichero | Descripción | Tamaño | Formato | |
|---|---|---|---|---|
| BedoyaGabriel_2013_SegregationHaplotypeEncompassing.pdf | Artículo de investigación | 186 kB | Adobe PDF | Visualizar/Abrir |
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