<?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>0120-4157</journal-id>
<journal-title><![CDATA[Biomédica]]></journal-title>
<abbrev-journal-title><![CDATA[Biomédica]]></abbrev-journal-title>
<issn>0120-4157</issn>
<publisher>
<publisher-name><![CDATA[Instituto Nacional de Salud]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0120-41572018000400463</article-id>
<article-id pub-id-type="doi">10.7705/biomedica.v38i4.3900</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome epiléptico ligado al cromosoma X por mutación de la protocaderina 19 (OMIM 300088) asociado con leucoencefalopatía y tractopatía posterior reversible]]></article-title>
<article-title xml:lang="en"><![CDATA[X-linked epileptic syndrome by protocadherin 19 mutation associated with leukoencephalopathy and posterior reversible tractopathy]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ortiz]]></surname>
<given-names><![CDATA[Blair]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Jaramillo]]></surname>
<given-names><![CDATA[Yesyka]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rojas]]></surname>
<given-names><![CDATA[Christian]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Antioquia Grupo de Neurología Infantil ]]></institution>
<addr-line><![CDATA[Medellín ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad del Valle Facultad de Salud ]]></institution>
<addr-line><![CDATA[Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2018</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2018</year>
</pub-date>
<volume>38</volume>
<numero>4</numero>
<fpage>463</fpage>
<lpage>466</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0120-41572018000400463&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0120-41572018000400463&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0120-41572018000400463&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen La epilepsia con retardo mental ligado al cromosoma X por mutación del gen PCDH19, es una condición que solo se presenta en las mujeres. El cuadro clínico suele verse complicado con retardo global del desarrollo y epilepsia. En la edad adulta puede manifestarse con discapacidad intelectual y hasta 20 % de las mujeres afectadas no presentan convulsiones ni retardo intelectual. Se presenta el caso de una niña con epilepsia, retardo del desarrollo y conversión autista, asociados con leucoencefalopatía y tractopatía posterior reversible por mutación del PCDH19 (c.142G&gt;T/ p.Glu48X).]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Epilepsy and mental retardation produced by mutations in gene PCDH19 (protocadherin 19) is an X-linked syndrome restricted to females. It starts with global and speech developmental delay and epilepsy; intellectual disability may continue in adults. At least in 20% of cases, there are no seizures or intellectual retardation. We report the case of a girl with epilepsy, developmental delay, and autistic conversion associated with posterior reversible leukoencephalopathy and tractopathy produced by PCDH19 mutation (c.142G&gt;T/ p.Glu48X).]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[epilepsia]]></kwd>
<kwd lng="es"><![CDATA[convulsiones febriles]]></kwd>
<kwd lng="es"><![CDATA[discapacidad intelectual]]></kwd>
<kwd lng="es"><![CDATA[leucoencefalopatías]]></kwd>
<kwd lng="es"><![CDATA[encefalopatías]]></kwd>
<kwd lng="en"><![CDATA[Epilepsy]]></kwd>
<kwd lng="en"><![CDATA[seizures, febrile]]></kwd>
<kwd lng="en"><![CDATA[intellectual disability]]></kwd>
<kwd lng="en"><![CDATA[leukoencephalopathies]]></kwd>
<kwd lng="en"><![CDATA[brain diseases]]></kwd>
</kwd-group>
</article-meta>
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<article-title xml:lang=""><![CDATA[PCDH19 mutations in female patients from Southern Italy]]></article-title>
<source><![CDATA[Seizure]]></source>
<year>2015</year>
<volume>24</volume>
<page-range>118-20</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
