<?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>S0120-87482019000300140</article-id>
<article-id pub-id-type="doi">10.22379/24224022261</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Características electroclínicas en pacientes menores de 18 años con errores innatos del metabolismo (EIM) y epilepsia]]></article-title>
<article-title xml:lang="en"><![CDATA[Electro clinical characteristics in pediatric patients with inborn errors of metabolism (IEM) and epilepsy]]></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[Sibila Jaramillo]]></surname>
<given-names><![CDATA[Yesyka]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Quintero]]></surname>
<given-names><![CDATA[Mario Andrés]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Arteaga]]></surname>
<given-names><![CDATA[Angélica]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cornejo]]></surname>
<given-names><![CDATA[José William]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Antioquia  ]]></institution>
<addr-line><![CDATA[Medellín ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad de Antioquia  ]]></institution>
<addr-line><![CDATA[Medellín ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Indeportes Antioquia  ]]></institution>
<addr-line><![CDATA[Medellín ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidad de Antioquia  ]]></institution>
<addr-line><![CDATA[Medellín ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Universidad de Antioquia  ]]></institution>
<addr-line><![CDATA[Medellín ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>09</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>09</month>
<year>2019</year>
</pub-date>
<volume>35</volume>
<numero>3</numero>
<fpage>140</fpage>
<lpage>145</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0120-87482019000300140&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0120-87482019000300140&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0120-87482019000300140&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  INTRODUCCIÓN: Los errores innatos del metabolismo (EIM) son un grupo de enfermedades de origen genético, que entre el 40 % y el 60 % pueden manifestar crisis convulsivas.  OBJETIVO: En este estudio se establecieron las características clínicas y electroencefalográficas en una muestra de 20 niños con diagnóstico de EIM y epilepsia.  MATERIALES Y METODOS: La metodología utilizada fue un estudio descriptivo de series de casos retrospectivo.  RESULTADOS: El 65 % de los pacientes de la muestra eran niños, el EIM de moléculas pequeñas fue el más frecuente (70 %). En cuanto a las variables clínicas, 90 % tenían encefalopatía, 75 % epilepsia refractaria y 55 °% crisis generalizadas. En electroencefalografía (EEG), 90 % de los pacientes tenían ritmo de fondo anormal, 80 % grafoelementos del sueño mal estructurados, 36 % de los afectados por EIM de moléculas pequeñas tenían patrón EEG multifocal y 100 % de los pacientes con déficit de producción de energía tuvieron patrón EEG focal.  CONCLUSION: El tipo de EIM más frecuente en el estudio fue de moléculas pequeñas, con grados variables de encefalopatía y epilepsia refractaria. La anormalidad electroencefalográfica más frecuente fue el ritmo de fondo anormal debido a grafoelementos de sueño mal estructurados, en tanto que el patrón eléctrico fue dependiente de la edad y el tipo de EIM.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[SUMMARY  INTRODUCTION: Inborn errors of metabolism (IEM) are a group of diseases of genetic origin and they may manifest with seizures at some point of their evolution such as 40 to 60 percent of cases.  SUBJECT: In this study, the clinical and electroencephalographic characteristics were established in a sample of 20 children diagnosed with IEM and epilepsy. METHODS: The methodology was a descriptive way of retrospective case series.  RESULTS: The group was constituted 65 % by males. The EIM of small molecules was the most frequent (70 %). Regarding the clinical variables, 90 % had encephalopathy, 75 % refractory epilepsy and 55 % generalized epilepsy. About the electroencephalographic facts, 90 % had an abnormal basal activity, 80 % poorly structured sleep elements. The most frequent electroencephalographic pattern in small molecules disease's patients was multifocal (36 %) but in deficit of energy production's patients was focal (100 %).  CONCLUSION: The type of IEM that predominated in this study was small molecules, with varying degrees of encephalopathy and refractory epilepsy. The most frequent electroencephalographic variable was abnormal background rhythm, with poorly structured sleep graphoelements. The electroencephalographic pattern depends on the age and type of IEM.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[manifestaciones neurológicas]]></kwd>
<kwd lng="es"><![CDATA[electroencefalografía]]></kwd>
<kwd lng="es"><![CDATA[epilepsia]]></kwd>
<kwd lng="es"><![CDATA[errores innatos del metabolismo]]></kwd>
<kwd lng="es"><![CDATA[hiperglicinemia no cetósica]]></kwd>
<kwd lng="es"><![CDATA[encefalopatías (DeCS)]]></kwd>
<kwd lng="en"><![CDATA[neurological manifestations]]></kwd>
<kwd lng="en"><![CDATA[electroencephalography]]></kwd>
<kwd lng="en"><![CDATA[epilepsy]]></kwd>
<kwd lng="en"><![CDATA[metabolism inborn errors]]></kwd>
<kwd lng="en"><![CDATA[non ketotic hyperglycinemia]]></kwd>
<kwd lng="en"><![CDATA[encephalopathy (MeSH)]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<label>1</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Pons]]></surname>
<given-names><![CDATA[MR]]></given-names>
</name>
<name>
<surname><![CDATA[Vega]]></surname>
<given-names><![CDATA[CS]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Enfoque práctico para el diagnóstico de los errores congénitos del metabolismo]]></article-title>
<source><![CDATA[Acta Pediátrica Española]]></source>
<year>1998</year>
<volume>56</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>39-56</page-range></nlm-citation>
</ref>
<ref id="B2">
<label>2</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Sanjurjo]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Baldellou]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Aldámiz-Echevarría]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Montejo]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[García Jiménez]]></surname>
<given-names><![CDATA[MC]]></given-names>
</name>
<name>
<surname><![CDATA[Aldamiz-Echevarría]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Los errores congénitos del metabolismo como enfermedades raras con un planteamiento global específico]]></article-title>
<source><![CDATA[An Sist Sanit Navar]]></source>
<year>2008</year>
<volume>31</volume>
<numero>^s2</numero>
<issue>^s2</issue>
<supplement>2</supplement>
<page-range>55-73</page-range></nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Scriver]]></surname>
<given-names><![CDATA[CR]]></given-names>
</name>
</person-group>
<collab>Beaudet AL, Sly L VD</collab>
<source><![CDATA[The metabolic and molecular basis of inherited disease]]></source>
<year>1995</year>
<edition>7</edition>
<publisher-name><![CDATA[MacGraw-Hill]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Bahi-Buisson]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Dulac]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
</person-group>
<source><![CDATA[Epilepsy in inborn errors of metabolism. Handbook of clinical neurology]]></source>
<year>2013</year>
<publisher-name><![CDATA[Elsevier]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Costanza Lamperti]]></surname>
<given-names><![CDATA[MZ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Myoclonus epilepsy in mitochondrial disorders]]></article-title>
<source><![CDATA[Epileptic Disord]]></source>
<year>2016</year>
<volume>18</volume>
<numero>^ss2</numero>
<issue>^ss2</issue>
<supplement>s2</supplement>
<page-range>s94-102</page-range></nlm-citation>
</ref>
<ref id="B6">
<label>6</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Verrotti]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Carelli]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Coppola]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Epilepsy in children with Menkes disease: A systematic review of literature]]></article-title>
<source><![CDATA[J Child Neurol]]></source>
<year>2014</year>
<volume>29</volume>
<numero>12</numero>
<issue>12</issue>
<page-range>1757-64</page-range></nlm-citation>
</ref>
<ref id="B7">
<label>7</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[HN]]></given-names>
</name>
<name>
<surname><![CDATA[Eom]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[SH]]></given-names>
</name>
<name>
<surname><![CDATA[Kang]]></surname>
<given-names><![CDATA[H-C]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[JS]]></given-names>
</name>
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[HD]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Epilepsy characteristics and clinical outcome in patients with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS)]]></article-title>
<source><![CDATA[Pediatr Neurol]]></source>
<year>2016</year>
<volume>64</volume>
<page-range>59-65</page-range></nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Stern]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Niemann-Pick's and Gaucher's diseases]]></article-title>
<source><![CDATA[Park Relat Disord]]></source>
<year>2014</year>
<volume>20</volume>
<numero>^s1</numero>
<issue>^s1</issue>
<supplement>1</supplement>
<page-range>143-6</page-range></nlm-citation>
</ref>
<ref id="B9">
<label>9</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[El-Hattab]]></surname>
<given-names><![CDATA[AW]]></given-names>
</name>
<name>
<surname><![CDATA[Adesina]]></surname>
<given-names><![CDATA[AM]]></given-names>
</name>
<name>
<surname><![CDATA[Jones]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Scaglia]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options]]></article-title>
<source><![CDATA[Mol Genet Metab]]></source>
<year>2015</year>
<volume>116</volume>
<numero>1-2</numero>
<issue>1-2</issue>
<page-range>4-12</page-range></nlm-citation>
</ref>
<ref id="B10">
<label>10</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Sánchez]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Tamara]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Serra]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Errores innatos del metabolismo: aproximación diagnóstica en atención primaria]]></article-title>
<source><![CDATA[Bol Pediatr]]></source>
<year>2007</year>
<page-range>111-5</page-range></nlm-citation>
</ref>
<ref id="B11">
<label>11</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Vassili]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Bwee Tien]]></surname>
<given-names><![CDATA[PT]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Diagnostic work-up in acute conditions of inborn errors of metabolism and storage diseases]]></article-title>
<source><![CDATA[Handb Clin Neurol]]></source>
<year>2013</year>
<volume>113</volume>
<page-range>1553-62</page-range></nlm-citation>
</ref>
<ref id="B12">
<label>12</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Miguel-Soca]]></surname>
<given-names><![CDATA[PE]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Enfermedades mitocondriales]]></article-title>
<source><![CDATA[Rev Neurol]]></source>
<year>2014</year>
<volume>58</volume>
<numero>6</numero>
<issue>6</issue>
<page-range>288</page-range></nlm-citation>
</ref>
<ref id="B13">
<label>13</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Finsterer]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Zarrouk Mahjoub]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Epilepsy in mitochondrial disorders]]></article-title>
<source><![CDATA[Seizure]]></source>
<year>2012</year>
<volume>21</volume>
<numero>5</numero>
<issue>5</issue>
<page-range>316-21</page-range></nlm-citation>
</ref>
<ref id="B14">
<label>14</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Leonard]]></surname>
<given-names><![CDATA[JV]]></given-names>
</name>
<name>
<surname><![CDATA[Morris]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Inborn errors of metabolism around time of birth]]></article-title>
<source><![CDATA[Lancet]]></source>
<year>2000</year>
<volume>356</volume>
<numero>9229</numero>
<issue>9229</issue>
<page-range>583-7</page-range></nlm-citation>
</ref>
<ref id="B15">
<label>15</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ahrens-Nicklas]]></surname>
<given-names><![CDATA[RC]]></given-names>
</name>
<name>
<surname><![CDATA[Slap]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Ficicioglu]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Adolescent presentations of inborn errors of metabolism]]></article-title>
<source><![CDATA[J Adolesc Heal]]></source>
<year>2015</year>
<volume>56</volume>
<numero>5</numero>
<issue>5</issue>
<page-range>477-82</page-range></nlm-citation>
</ref>
<ref id="B16">
<label>16</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Barrera]]></surname>
<given-names><![CDATA[LA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Errores innatos del metabolismo: Seis años de investigación en Colombia]]></article-title>
<source><![CDATA[Acta Médica Colomb]]></source>
<year>1993</year>
<volume>18</volume>
<page-range>31-40</page-range></nlm-citation>
</ref>
<ref id="B17">
<label>17</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Yu]]></surname>
<given-names><![CDATA[JY]]></given-names>
</name>
<name>
<surname><![CDATA[Pearl]]></surname>
<given-names><![CDATA[PL]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Metabolic causes of epileptic encephalopathy]]></article-title>
<source><![CDATA[Epilepsy Res Treat]]></source>
<year>2013</year>
<volume>2013</volume>
<page-range>1-20</page-range></nlm-citation>
</ref>
<ref id="B18">
<label>18</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Linari]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Castaman]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Clinical manifestations and management of Gaucher disease]]></article-title>
<source><![CDATA[Clin Cases Miner Bone Metab]]></source>
<year>2015</year>
<volume>12</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>157-64</page-range></nlm-citation>
</ref>
<ref id="B19">
<label>19</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hoffmann]]></surname>
<given-names><![CDATA[GF]]></given-names>
</name>
<name>
<surname><![CDATA[Kölker]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Defects in amino acid catabolism and the urea cycle]]></article-title>
<source><![CDATA[Handbook of Clinical Neurology]]></source>
<year>2013</year>
<edition>Elsevier</edition>
</nlm-citation>
</ref>
<ref id="B20">
<label>20</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kwon]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Testing for inborn errors of metabolism]]></article-title>
<source><![CDATA[Child Neurol]]></source>
<year>2018</year>
<volume>24</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>37-56</page-range></nlm-citation>
</ref>
<ref id="B21">
<label>21</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Shakiba M]]></surname>
<given-names><![CDATA[KM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Effect of whole exome sequencing in diagnosis of inborn errors of metabolism and neurogenetic disorders]]></article-title>
<source><![CDATA[Iran J Child Neurol]]></source>
<year>2018</year>
<volume>12</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>7-15</page-range></nlm-citation>
</ref>
<ref id="B22">
<label>22</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Trujillo Gómez]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Tobón Carvajal]]></surname>
<given-names><![CDATA[SM]]></given-names>
</name>
<name>
<surname><![CDATA[Ortiz Giraldo]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Mesa Restrepo]]></surname>
<given-names><![CDATA[SC]]></given-names>
</name>
<name>
<surname><![CDATA[Vélez Rengifo]]></surname>
<given-names><![CDATA[GJ]]></given-names>
</name>
<name>
<surname><![CDATA[Cornejo Ochoa]]></surname>
<given-names><![CDATA[JW]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Caracterización clínica, bioquímica e imagenológica en una cohorte de pacientes diagnosticados con hiperglicinemia no cetósica clásica: estudio ambispectivo 2000-2014, Medellín, Colombia]]></article-title>
<source><![CDATA[Acta Neurol Colomb]]></source>
<year>2015</year>
<volume>31</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>378-84</page-range></nlm-citation>
</ref>
<ref id="B23">
<label>23</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hoover-Fong]]></surname>
<given-names><![CDATA[JE]]></given-names>
</name>
<name>
<surname><![CDATA[Shah]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Van Hove]]></surname>
<given-names><![CDATA[JLK]]></given-names>
</name>
<name>
<surname><![CDATA[Applegarth]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Toone]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Hamosh]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Natural history of nonketotic hyperglycinemia in 65 patients]]></article-title>
<source><![CDATA[Neurology]]></source>
<year>2004</year>
<volume>63</volume>
<numero>10</numero>
<issue>10</issue>
<page-range>1847-53</page-range></nlm-citation>
</ref>
<ref id="B24">
<label>24</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wasim]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Awan]]></surname>
<given-names><![CDATA[FR]]></given-names>
</name>
<name>
<surname><![CDATA[Khan]]></surname>
<given-names><![CDATA[HN]]></given-names>
</name>
<name>
<surname><![CDATA[Tawab]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Iqbal M]]></surname>
<given-names><![CDATA[AH]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Aminoacidopathies: Prevalence, etiology, screening, and treatment options]]></article-title>
<source><![CDATA[Biochem Genet]]></source>
<year>2018</year>
<volume>56</volume>
<numero>1-2</numero>
<issue>1-2</issue>
<page-range>7-21</page-range></nlm-citation>
</ref>
<ref id="B25">
<label>25</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Sharma]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Prasad]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Inborn errors of metabolism and epilepsy: Current understanding, diagnosis, and treatment approaches]]></article-title>
<source><![CDATA[Int J Mol Sci]]></source>
<year>2017</year>
<volume>18</volume>
<numero>7</numero>
<issue>7</issue>
<page-range>1384</page-range></nlm-citation>
</ref>
<ref id="B26">
<label>26</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hwang]]></surname>
<given-names><![CDATA[SK]]></given-names>
</name>
<name>
<surname><![CDATA[Kwon]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Early-onset epileptic encephalopathies and the diagnostic approach to underlying causes]]></article-title>
<source><![CDATA[Korean J Pediatr]]></source>
<year>2015</year>
<volume>58</volume>
<numero>11</numero>
<issue>11</issue>
<page-range>407-14</page-range></nlm-citation>
</ref>
<ref id="B27">
<label>27</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Canafoglia]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Gilioli]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Invernizzi]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Sofia]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Fugnanesi]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Morbin]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations]]></article-title>
<source><![CDATA[Neurology]]></source>
<year>2015</year>
<volume>85</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>316-24</page-range></nlm-citation>
</ref>
<ref id="B28">
<label>28</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Guida]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Pesaresi]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Fabbri]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Sartucci]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Cosottini]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Giorgi]]></surname>
<given-names><![CDATA[FS]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Epilepsy and phenylketonuria: A case description and EEG-fMRI findings]]></article-title>
<source><![CDATA[Funct Neurol]]></source>
<year>2014</year>
<volume>29</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>75-9</page-range></nlm-citation>
</ref>
<ref id="B29">
<label>29</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Leuzzi]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Mastrangelo]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Battini]]></surname>
<given-names><![CDATA[CG]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Inborn errors of creatine metabolism and epilepsy]]></article-title>
<source><![CDATA[Epilepsia]]></source>
<year>2013</year>
<volume>54</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>217-27</page-range></nlm-citation>
</ref>
<ref id="B30">
<label>30</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ohtahara]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Yamatogi]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Epileptic encephalopathies in early infancy with suppression-burst]]></article-title>
<source><![CDATA[J Clin Neurophysiol]]></source>
<year>2003</year>
<volume>20</volume>
<numero>6</numero>
<issue>6</issue>
<page-range>398-407</page-range></nlm-citation>
</ref>
<ref id="B31">
<label>31</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wong-Kisiel]]></surname>
<given-names><![CDATA[LC]]></given-names>
</name>
<name>
<surname><![CDATA[Nickels]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Electroencephalogram of age-dependent epileptic encephalopathies in infancy and early childhood]]></article-title>
<source><![CDATA[Epilepsy Res Treat]]></source>
<year>2013</year>
<volume>2013</volume>
<page-range>743203</page-range></nlm-citation>
</ref>
<ref id="B32">
<label>32</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Alfei]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Raviglione]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Franceschetti]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[D'Arrigo]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Milani]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Selicorni]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes]]></article-title>
<source><![CDATA[Am J Med Genet A]]></source>
<year>2014</year>
<volume>12</volume>
<page-range>3154-61</page-range></nlm-citation>
</ref>
<ref id="B33">
<label>33</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Tatum]]></surname>
<given-names><![CDATA[WO]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Progressive myoclonic epilepsy]]></article-title>
<source><![CDATA[Epilepsy Case Stud Pearls Patient Care]]></source>
<year>2014</year>
<volume>4</volume>
<page-range>81-5</page-range></nlm-citation>
</ref>
<ref id="B34">
<label>34</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Fisher]]></surname>
<given-names><![CDATA[RS]]></given-names>
</name>
<name>
<surname><![CDATA[Cross]]></surname>
<given-names><![CDATA[JH]]></given-names>
</name>
<name>
<surname><![CDATA[French]]></surname>
<given-names><![CDATA[JA]]></given-names>
</name>
<name>
<surname><![CDATA[Higurashi]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Hirsch]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Jansen]]></surname>
<given-names><![CDATA[FE]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Operational classification of seizure types by the International League Against Epilepsy: Position paper of the ILAE Commission for Classification and Terminology]]></article-title>
<source><![CDATA[Epilepsia]]></source>
<year>2017</year>
<volume>58</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>522-30</page-range></nlm-citation>
</ref>
<ref id="B35">
<label>35</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Campistol]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Errores congénitos del metabolismo con crisis epilépticas en los primeros años de vida]]></article-title>
<source><![CDATA[Rev Neurol]]></source>
<year>2002</year>
<volume>35</volume>
<numero>^s1</numero>
<issue>^s1</issue>
<supplement>1</supplement>
<page-range>3-20</page-range></nlm-citation>
</ref>
<ref id="B36">
<label>36</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Campistol]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Síndromes epilépticos del primer año de vida y errores congénitos del metabolismo]]></article-title>
<source><![CDATA[Rev Neurol]]></source>
<year>2000</year>
<volume>30</volume>
<numero>^s1</numero>
<issue>^s1</issue>
<supplement>1</supplement>
<page-range>60-74</page-range></nlm-citation>
</ref>
<ref id="B37">
<label>37</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Dinopoulos]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Matsubara]]></surname>
<given-names><![CDATA[KS]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Atypical variants of nonketotic hyperglycinemia]]></article-title>
<source><![CDATA[Mol Genet Metab]]></source>
<year>2005</year>
<volume>86</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>61-9</page-range></nlm-citation>
</ref>
<ref id="B38">
<label>38</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kazmierczuk-Skubis]]></surname>
<given-names><![CDATA[ME]]></given-names>
</name>
<name>
<surname><![CDATA[Zatorska-Karpus]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Pac-Kozuchowska]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Bojko-Jaworska J]]></surname>
<given-names><![CDATA[F-JW]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Nonketotic hyperglycinemia as the cause of infant seizures--the case study]]></article-title>
<source><![CDATA[Ann Univ Mariae Curie Sklodowska Med]]></source>
<year></year>
<volume>59</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>237-41</page-range></nlm-citation>
</ref>
<ref id="B39">
<label>39</label><nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Pearl]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<source><![CDATA[Inherited metabolic epilepsies]]></source>
<year>2013</year>
<edition>2</edition>
<publisher-name><![CDATA[demos MEDICAL, Springer]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B40">
<label>40</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[El-Hattab]]></surname>
<given-names><![CDATA[AW]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Inborn errors of metabolism]]></article-title>
<source><![CDATA[Clin Perinatol]]></source>
<year>2015</year>
<volume>42</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>413-39</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
