<?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>0035-0052</journal-id>
<journal-title><![CDATA[Revista mexicana de pediatría]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. mex. pediatr.]]></abbrev-journal-title>
<issn>0035-0052</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Mexicana de Pediatría A.C.]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0035-00522022000300112</article-id>
<article-id pub-id-type="doi">10.35366/109308</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Variante patogénica CACNA1S como causa de parálisis periódica hipocalémica]]></article-title>
<article-title xml:lang="en"><![CDATA[CACNA1S pathogenic variant as a cause of hypokalemic periodic paralysis]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Bermejo-Padilla]]></surname>
<given-names><![CDATA[Sindy]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[León-Torres]]></surname>
<given-names><![CDATA[Kelly]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Prieto-Rivera]]></surname>
<given-names><![CDATA[Juan Carlos]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Espinosa-García]]></surname>
<given-names><![CDATA[Eugenia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad Militar Nueva Granada  ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad Javeriana  ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Instituto de Genética Humana Universidad Javeriana ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidad Militar Nueva Granada Hospital Militar Central Servicio de Neuropediatría]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2022</year>
</pub-date>
<volume>89</volume>
<numero>3</numero>
<fpage>112</fpage>
<lpage>116</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S0035-00522022000300112&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S0035-00522022000300112&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S0035-00522022000300112&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen:  Introducción:  se presenta el caso de un paciente con parálisis periódica hipocalémica (PPH), que es un tipo de canalopatía muscular ocasionada por una alteración genética.  Caso clínico:  adolescente masculino de 13 años, sin antecedentes familiares de importancia. Inició con episodios de parálisis flácida de las cuatro extremidades al despertar, de duración variable, sin compromiso del estado de conciencia. En uno de los episodios se documentó hipocalemia grave (1.6 mmol/L), con recuperación posterior a corrección electrolítica. Se sospechó de PPH, por lo que se solicitó panel genético y se identificó variante patogénica heterocigota en el gen CACNA1S, clasificándose como PPH tipo 1.  Conclusiones:  la PPH es un desafío diagnóstico y terapéutico; su identificación temprana puede ayudar a estos pacientes a reducir las comorbilidades.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract:  Introduction:  we present the case of a patient with hypokalemic periodic paralysis (HPP), which is a type of muscular channelopathy caused by a genetic alteration.  Clinical case:  a 13-year-old male adolescent with no significant family history. He started with episodes of flaccid paralysis of the four extremities upon awakening, the duration was variable, and without compromise of mental functions. In one of the episodes, severe hypokalemia (1.6 mmol/L) was documented, with recovery after electrolyte correction. HPP was suspected, requesting a genetic panel in which a heterozygous pathogenic variant was identified in the CACNA1S gene, classifying it as type 1 HPPH.  Conclusions:  HPP is a diagnostic and therapeutic challenge; its early identification can help to reduce comorbidities in these patients.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[adolescente]]></kwd>
<kwd lng="es"><![CDATA[CACNA1S]]></kwd>
<kwd lng="es"><![CDATA[canalopatía]]></kwd>
<kwd lng="es"><![CDATA[hipocalemia]]></kwd>
<kwd lng="es"><![CDATA[parálisis periódica]]></kwd>
<kwd lng="en"><![CDATA[adolescent]]></kwd>
<kwd lng="en"><![CDATA[CACNA1S]]></kwd>
<kwd lng="en"><![CDATA[channelopathy]]></kwd>
<kwd lng="en"><![CDATA[hypokalemia]]></kwd>
<kwd lng="en"><![CDATA[periodic paralysis]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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