<?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>1665-1146</journal-id>
<journal-title><![CDATA[Boletín médico del Hospital Infantil de México]]></journal-title>
<abbrev-journal-title><![CDATA[Bol. Med. Hosp. Infant. Mex.]]></abbrev-journal-title>
<issn>1665-1146</issn>
<publisher>
<publisher-name><![CDATA[Instituto Nacional de Salud, Hospital Infantil de México Federico Gómez]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1665-11462019000100049</article-id>
<article-id pub-id-type="doi">10.24875/bmhim.18000099</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencing]]></article-title>
<article-title xml:lang="es"><![CDATA[Mutación de novo recurrente en el gen ATP1A3 en una paciente mexicana con hemiplejia alternante de la infancia detectada por secuenciación masiva en paralelo]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Galaz-Montoya]]></surname>
<given-names><![CDATA[Carolina I.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Alcaraz-Estrada]]></surname>
<given-names><![CDATA[Sofia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[García-Montaño]]></surname>
<given-names><![CDATA[Leopoldo A.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Zenteno]]></surname>
<given-names><![CDATA[Juan C.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Piña-Aguilar]]></surname>
<given-names><![CDATA[Raul E.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Sonora  ]]></institution>
<addr-line><![CDATA[Sonora Hermosillo]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado Centro Médico Nacional 20 de Noviembre Division of Medical Genomics]]></institution>
<addr-line><![CDATA[México ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Instituto de Oftalmología Conde de Valencia Research Unit in Genetics ]]></institution>
<addr-line><![CDATA[México ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidad Nacional Autónoma de Mexico Facultad de Medicina Department of Biochemistry]]></institution>
<addr-line><![CDATA[México ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,University of Aberdeen School of Medicine, Medical Sciences and Nutrition ]]></institution>
<addr-line><![CDATA[Aberdeen ]]></addr-line>
<country>United Kingdom</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>02</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>02</month>
<year>2019</year>
</pub-date>
<volume>76</volume>
<numero>1</numero>
<fpage>49</fpage>
<lpage>53</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S1665-11462019000100049&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S1665-11462019000100049&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S1665-11462019000100049&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Background:  Pediatric movement disorders represent a diagnostic challenge for pediatricians and pediatric neurologists due to their high clinical heterogeneity and shared common features. Therefore, specific diagnoses require different approaches including metabolic work-up and specific tests for frequent genetic conditions. Alternating hemiplegia of childhood (AHC) is an ultra-rare pediatric movement disorder, characterized by paroxysmal alternating hemiplegia, dystonia, and seizure-like episodes that can be misleading during the evaluation of a child with a movement disorder.  Case report:  We present a Mexican patient with abnormal movements referred to the Genetics clinic because of hyperammonemia and a possible organic acidemia. Our assessment did not find clinical features compatible with an inborn error of metabolism. A massively parallel sequencing approach with targeted panel sequencing was used to get a final diagnosis. A missense variant c.2839G&gt;A (p.Gly947Arg) located at exon 21 of ATP1A3 gene was demonstrated. This variant (rs398122887) has been previously reported as de novo producing alternating hemiplegia of childhood (AHC).  Conclusions:  AHC is an ultra-rare syndrome presented as a movement disorder with seizure-like episodes and a unique facial phenotype. Clinicians should be aware of this combination in order to diagnose this condition in a timely manner. Massive parallel sequencing panels are emerging as the best approach to diagnose rare movement disorders and simultaneously rule out metabolic disorders and common epileptic syndromes.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción:  Los trastornos pediátricos del movimiento representan un reto diagnóstico para pediatras y neurólogos pediatras debido a su gran heterogeneidad clínica y características comunes compartidas. Por lo tanto, los diagnósticos específicos requieren de diferentes abordajes que incluyen la búsqueda de desórdenes metabólicos y pruebas específicas para condiciones genéticas frecuentes. La hemiplejia alternante de la infancia (AHC) es un trastorno pediátrico del movimiento poco común, caracterizado por cuadros paroxísticos de hemiplejia alternante, distonía y episodios semejantes a crisis epilépticas, que pueden resultar desorientadores durante el abordaje diagnóstico de un infante con un desorden del movimiento.  Caso clínico:  Presentamos una paciente mexicana con movimientos anormales referida a la Clínica de Genética por hiperamonemia y una posible acidemia orgánica. Nuestro abordaje no identificó características clínicas compatibles con un error innato del metabolismo. Se utilizó un abordaje basado en secuenciación masiva en paralelo para obtener un diagnóstico final. Se demostró una variante de sentido equivocado c.2839G&gt;A (p.Gly947Arg) localizada en el exón 21 del gen ATP1A3. Esta variante (rs398122887) ha sido previamente reportada como de novo, ocasionando AHC.  Conclusiones:  La AHC es un síndrome excepcionalmente raro que se presenta con un trastorno del movimiento con cuadros semejantes a crisis epilépticas y un fenotipo facial particular. Los médicos deben ser conscientes de esta combinación con el fin de diagnosticar oportunamente esta condición. Los paneles de secuenciación masiva están emergiendo como el mejor abordaje para diagnosticar trastornos del movimiento raros y, simultáneamente, descartar trastornos metabólicos y síndromes epilépticos comunes.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Congenital paralysis]]></kwd>
<kwd lng="en"><![CDATA[Dystonia]]></kwd>
<kwd lng="en"><![CDATA[Hemiplegia]]></kwd>
<kwd lng="en"><![CDATA[Neurogenetics]]></kwd>
<kwd lng="en"><![CDATA[Movement disorders]]></kwd>
<kwd lng="es"><![CDATA[Parálisis congénita]]></kwd>
<kwd lng="es"><![CDATA[Distonía]]></kwd>
<kwd lng="es"><![CDATA[Hemiplejia]]></kwd>
<kwd lng="es"><![CDATA[Neurogenética]]></kwd>
<kwd lng="es"><![CDATA[Trastornos del movimiento]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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