<?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>1688-1249</journal-id>
<journal-title><![CDATA[Archivos de Pediatría del Uruguay]]></journal-title>
<abbrev-journal-title><![CDATA[Arch. Pediatr. Urug.]]></abbrev-journal-title>
<issn>1688-1249</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Uruguaya de Pediatría]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1688-12492024000301319</article-id>
<article-id pub-id-type="doi">10.31134/ap.95.2.18</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Encefalopatía epiléptica de debut neonatal. Mutación del gen KCNQ2]]></article-title>
<article-title xml:lang="en"><![CDATA[Neonatal epilectic encephalopaty. KCNQ2 gene mutation]]></article-title>
<article-title xml:lang="pt"><![CDATA[Encefalopatia epiléptica neonatal. Mutação do gene KCNQ2]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Zurbriggen]]></surname>
<given-names><![CDATA[Candela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Janis]]></surname>
<given-names><![CDATA[Constanza]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Berazategui]]></surname>
<given-names><![CDATA[Juan Pablo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Goldschmidt]]></surname>
<given-names><![CDATA[Ernesto]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[López]]></surname>
<given-names><![CDATA[Lucrecia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ferrer]]></surname>
<given-names><![CDATA[Juan Manuel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Sanatorio Anchorena. San Martín Unidad de Neonatología ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af2">
<institution><![CDATA[,Sanatorio Anchorena. San Martín Unidad de Neonatología ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af3">
<institution><![CDATA[,Sanatorio Anchorena. San Martín Servicio Genética ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af4">
<institution><![CDATA[,Sanatorio Anchorena. San Martín Laboratorio ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af5">
<institution><![CDATA[,Sanatorio Anchorena. San Martín Servicio Neurología Pediátrica ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2024</year>
</pub-date>
<volume>95</volume>
<numero>2</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_arttext&amp;pid=S1688-12492024000301319&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_abstract&amp;pid=S1688-12492024000301319&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_pdf&amp;pid=S1688-12492024000301319&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen:  Introducción: el gen KCNQ2 codifica una subunidad formadora de canales de potasio que se encuentran en las neuronas, éstas transmiten señal eléctrica y así las neuronas no permanecen constantemente activas. Mutaciones en el gen pueden desencadenar excesiva excitabilidad neuronal causando CNBF o EEP 7, o ambas. Estas mutaciones constituyen un diagnóstico etiológico emergente y poco conocido de la epilepsia neonatal.  Objetivos: describir un caso clínico con convulsiones en etapa neonatal y con detección temprana del gen KCNQ2.  Caso clínico: se expone el caso de un neonato de 11 días de vida que consulta en guardia por presentar en domicilio episodios tónico clónicos de miembro superior derecho asociados a cianosis peribucal. Se medica con anticonvulsivantes. Se solicitan estudios complementarios, los cuales se encuentran alterados en polisomnográfico con episodios convulsivos y el panel genético para convulsiones neonatales tempranas: alteración para el gen KCNQ2.  Conclusiones: conocer los genes causantes y diagnosticarlos a tiempo podría tener una gran repercusión en el pronóstico y tratamiento.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Summary:  Introduction:  the KCNQ2 gene encodes a subunit that forms potassium channels, found in neurons. These transmit electrical signals and thus the neurons do not remain constantly active. Mutations in it can trigger excessive neuronal excitability causing CNBF and/or EEP 7. These mutations are an emerging and little-known etiological diagnosis of neonatal epilepsy.  Objectives:  a clinical case presenting seizures in the neonatal stage and early detection of the KCNQ2 gene.  Clinical case:  we present the case of an 11-day-old neonate who consults due to home tonic-clonic episodes of the right upper limb associated with perioral cyanosis. Anticonvulsants are prescribed. Complementary studies are requested, which show altered polysomnography with seizure episodes and the genetic panel for early neonatal seizures: alteration of the KCNQ2 gene.  Conclusions:  knowing the causative genes and diagnosing them in time could have a high impact on the prognosis and treatment.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo:  Introdução:  o gene KCNQ2 codifica uma subunidade que forma canais de potássio, que são encontrados nos neurônios. Estes transmitem sinais elétricos e, portanto, os neurônios não permanecem constantemente ativos. Mutações nele podem desencadear excitabilidade neuronal excessiva causando CNBF e/ou EEP 7. Essas mutações constituem um diagnóstico etiológico emergente e pouco conhecido de epilepsia neonatal.  Objetivos: descrever um caso clínico com crises convulsivas na fase neonatal e com detecção precoce do gene KCNQ2.  Caso clínico:  apresenta-se o caso de um neonato de 11 dias que consulta num plantão por apresentar em domicílio episódios tônico-clônicos do membro superior direito associados a cianose perioral. Ele está medicado com anticonvulsivantes. São solicitados estudos complementares que demonstrem polissonografia alterada com episódios convulsivos e painel genético para crises neonatais precoces: alteração para o gene KCNQ2.  Conclusãos:  conhecer os genes causadores e diagnosticá-los a tempo pode ter um grande impacto no prognóstico e no tratamento.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Epilepsia Benigna Neonatal]]></kwd>
<kwd lng="es"><![CDATA[Convulsiones]]></kwd>
<kwd lng="es"><![CDATA[Canal de Potasio KCNQ2]]></kwd>
<kwd lng="en"><![CDATA[Neonatal Benign Epilepsy]]></kwd>
<kwd lng="en"><![CDATA[Seizures]]></kwd>
<kwd lng="en"><![CDATA[KCNQ2 Potassium Channel]]></kwd>
<kwd lng="pt"><![CDATA[Epilepsia Benigna Neonatal]]></kwd>
<kwd lng="pt"><![CDATA[Convulsões]]></kwd>
<kwd lng="pt"><![CDATA[Canal de potássio KCNQ2]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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