<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>0120-8748</journal-id>
<journal-title><![CDATA[Acta Neurológica Colombiana]]></journal-title>
<abbrev-journal-title><![CDATA[Acta Neurol Colomb.]]></abbrev-journal-title>
<issn>0120-8748</issn>
<publisher>
<publisher-name><![CDATA[Asociación Colombiana de Neurología]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0120-87482018000300175</article-id>
<article-id pub-id-type="doi">10.22379/24224022209</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Variantes genéticas de susceptibilidad en epilepsia genética generalizada en familias colombianas]]></article-title>
<article-title xml:lang="en"><![CDATA[Susceptibility gene variants in genetic generalized epilepsy in Colombian families]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Tejada Moreno]]></surname>
<given-names><![CDATA[Johanna]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Carrizosa Moog]]></surname>
<given-names><![CDATA[Jaime]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gomez Castillo]]></surname>
<given-names><![CDATA[Christhian]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Medina Malo]]></surname>
<given-names><![CDATA[Carlos]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Uscategui]]></surname>
<given-names><![CDATA[Angelica]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Guio]]></surname>
<given-names><![CDATA[Laura]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cabrera Hemer]]></surname>
<given-names><![CDATA[Dagoberto]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rojas]]></surname>
<given-names><![CDATA[Winston]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cornejo Ochoa]]></surname>
<given-names><![CDATA[William]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pineda Trujillo]]></surname>
<given-names><![CDATA[Nicolás]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Antioquia Facultad de Medicina Departamento de Pediatria]]></institution>
<addr-line><![CDATA[Medellín ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad de Antioquia Facultad de Medicina Departamento de Pediatria]]></institution>
<addr-line><![CDATA[Medellín ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,LICCE  ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidad Nacional de Colombia Departamento de Pediatria ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Universidad de Antioquia Insitituto de Biología ]]></institution>
<addr-line><![CDATA[Medellín ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>09</month>
<year>2018</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>09</month>
<year>2018</year>
</pub-date>
<volume>34</volume>
<numero>3</numero>
<fpage>175</fpage>
<lpage>183</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0120-87482018000300175&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0120-87482018000300175&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0120-87482018000300175&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  INTRODUCCIÓN: Las epilepsias genéticas generalizadas (EGG) siguen patrones de herencia compleja. Este fenotipo es producto de la interacción de diferentes genes con factores ambientales. Los genes/loci más consistentemente asociados con este grupo de epilepsias son ECA1, ECA2-GABRG2, ECA3-CLCN2 (también conocido como JME6-CLCN2), JME1-EFHC1 y JME5-GABRA1. En Colombia poco se sabe sobre la contribución de las variantes genéticas en estos genes a la susceptibilidad para ser afectado por cualquiera de las formas de EGG. Nuestro propósito fue evaluar el papel de los cinco genes/loci más consistentemente asociados en otros estudios en un grupo de familias colombianas con EGG.  MÉTODOS: Se evaluaron dos marcadores para cada locus/gen. Los genotipos se obtuvieron mediante las técnicas de PCR-RFLP y ARMS-Tetraprimer. Los análisis estadísticos incluyeron pruebas de asociación alélica y haplotípica, además de pruebas de interacción gen-gen.  RESULTADOS: Se incluyeron 98 familias, de las cuales 51 fueron epilepsia de ausencias, mientras que 47 fueron epilepsia mioclónica juvenil. Se identificó una interacción significativa entre el alelo G del marcador rs4428455 (valor P = 0,0008; gen GABRA1) y el alelo G de marcador rs719395 (valor P = 0,002; gen EFHC1).  CONCLUSIÓN: Estos dos marcadores parecen incrementar el riesgo de EGG en población colombiana. Otros genes no analizados aquí podrían estudiarse con una muestra de mayor tamaño.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[SUMMARY  INTRODUCTION: Generalized genetic epilepsies (GGE) follow complex inheritance patterns. This phenotype is due to interaction of several genes with environmental factors. The genes/loci most consistently associated with this group of epilepsies are ECA1, ECA2-GABRG2, ECA3-CLCN2 (also known as JME6-CLCN2), JME1-EFHC1 and JME5-GABRA1. In Colombia, little is known about the contribution of gene variants to susceptibility to GGE forms. Our purpose was to evaluate the role of the five most consistently associated genes /loci in other studies, in Colombian families set with GGE.  METHODS: Genotypes were obtained by means of PCR-RFLP and ARMS-Tetraprimer. Statistical analyses included both allelic and haplotypic association tests, in addition to gene-gene interaction tests. Two genetic markers were tested for each gene/locus.  RESULTS: Ninety-eight families were included, from which 51 had absence epilepsy, and 47 had juvenile myoclonic epilepsy. A significant interaction was identified between allele G at marker rs4428455 (P-value = 0.0008; gene GABRA1) and allele G at marker rs719395 (P-value = 0.002; gene EFHC1).  CONCLUSION: Our results suggest that these two markers are associated with GGE in the Colombian population. Other genes not analyzed could be tested using a larger sample size.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[epilepsia]]></kwd>
<kwd lng="es"><![CDATA[epilepsia generalizada]]></kwd>
<kwd lng="es"><![CDATA[estudios de asociación genética]]></kwd>
<kwd lng="es"><![CDATA[genes (DeCS)]]></kwd>
<kwd lng="en"><![CDATA[epilepsy]]></kwd>
<kwd lng="en"><![CDATA[epilepsy, generalized]]></kwd>
<kwd lng="en"><![CDATA[genes]]></kwd>
<kwd lng="en"><![CDATA[genetic association studies (MeSH)]]></kwd>
</kwd-group>
</article-meta>
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