Thermolabile polymorphism of carnitine palmitoyltransferase 2: A genetic risk factor of overall acute encephalopathy.
Identifieur interne : 000472 ( PubMed/Corpus ); précédent : 000471; suivant : 000473Thermolabile polymorphism of carnitine palmitoyltransferase 2: A genetic risk factor of overall acute encephalopathy.
Auteurs : Akiko Shibata ; Mariko Kasai ; Ai Hoshino ; Taku Miyagawa ; Hiroshi Matsumoto ; Gaku Yamanaka ; Kenjiro Kikuchi ; Ichiro Kuki ; Akira Kumakura ; Shinya Hara ; Takashi Shiihara ; Sawako Yamazaki ; Masayasu Ohta ; Takanori Yamagata ; Jun-Ichi Takanashi ; Masaya Kubota ; Akira Oka ; Masashi MizuguchiSource :
- Brain & development [ 1872-7131 ] ; 2019.
English descriptors
- KwdEn :
- Alleles, Brain Diseases (genetics), Carnitine O-Palmitoyltransferase (deficiency), Carnitine O-Palmitoyltransferase (genetics), Case-Control Studies, Child, Preschool, Encephalitis, Female, Gene Frequency (genetics), Genome-Wide Association Study (methods), Genotype, Humans, Infant, Japan, Male, Polymorphism, Genetic (genetics), Risk Factors, Seizures.
- MESH :
- chemical , deficiency : Carnitine O-Palmitoyltransferase.
- geographic : Japan.
- genetics : Brain Diseases, Carnitine O-Palmitoyltransferase, Gene Frequency, Polymorphism, Genetic.
- methods : Genome-Wide Association Study.
- Alleles, Case-Control Studies, Child, Preschool, Encephalitis, Female, Genotype, Humans, Infant, Male, Risk Factors, Seizures.
Abstract
Acute encephalopathy is an acute brain dysfunction after preceding infection, consisting of multiple syndromes. Some syndromes, such as acute encephalopathy with biphasic seizures and late reduced diffusion (AESD), are severe with poor outcome, whereas others, such as clinically mild encephalitis/encephalopathy with reversible splenial lesion (MERS), are mild with favorable outcome. Previous study reported the association of the thermolabile polymorphism in Carnitine Palmitoyltransferase 2 (CPT2) gene and severe syndromes of acute encephalopathy. To further explore the pathogenetic role of CPT2 in acute encephalopathy, we conducted a case-control association study of a typical thermolabile CPT2 polymorphism, rs2229291, in 416 patients of acute encephalopathy, including both severe and mild syndromes.
DOI: 10.1016/j.braindev.2019.07.008
PubMed: 31351739
Links to Exploration step
pubmed:31351739Le document en format XML
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Electronic address: asasano-tky@umin.ac.jp.</nlm:affiliation></affiliation></author><author><name sortKey="Kasai, Mariko" sort="Kasai, Mariko" uniqKey="Kasai M" first="Mariko" last="Kasai">Mariko Kasai</name><affiliation><nlm:affiliation>Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Hoshino, Ai" sort="Hoshino, Ai" uniqKey="Hoshino A" first="Ai" last="Hoshino">Ai Hoshino</name><affiliation><nlm:affiliation>Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Miyagawa, Taku" sort="Miyagawa, Taku" uniqKey="Miyagawa T" first="Taku" last="Miyagawa">Taku Miyagawa</name><affiliation><nlm:affiliation>Sleep Disorders Project, Department of Psychiatry and Behavioral Sciences, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan; Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Matsumoto, Hiroshi" sort="Matsumoto, Hiroshi" uniqKey="Matsumoto H" first="Hiroshi" last="Matsumoto">Hiroshi Matsumoto</name><affiliation><nlm:affiliation>Department of Pediatrics, National Defense Medical College, Saitama, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Yamanaka, Gaku" sort="Yamanaka, Gaku" uniqKey="Yamanaka G" first="Gaku" last="Yamanaka">Gaku Yamanaka</name><affiliation><nlm:affiliation>Department of Pediatrics, Tokyo Medical University, Tokyo, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Kikuchi, Kenjiro" sort="Kikuchi, Kenjiro" uniqKey="Kikuchi K" first="Kenjiro" last="Kikuchi">Kenjiro Kikuchi</name><affiliation><nlm:affiliation>Division of Neurology, Saitama Children's Medical Center, Saitama, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Kuki, Ichiro" sort="Kuki, Ichiro" uniqKey="Kuki I" first="Ichiro" last="Kuki">Ichiro Kuki</name><affiliation><nlm:affiliation>Department of Pediatrics, Osaka City General Hospital, Osaka, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Kumakura, Akira" sort="Kumakura, Akira" uniqKey="Kumakura A" first="Akira" last="Kumakura">Akira Kumakura</name><affiliation><nlm:affiliation>Department of Pediatrics, Kitano Hospital, Osaka, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Hara, Shinya" sort="Hara, Shinya" uniqKey="Hara S" first="Shinya" last="Hara">Shinya Hara</name><affiliation><nlm:affiliation>Department of Pediatrics, TOYOTA Memorial Hospital, Aichi, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Shiihara, Takashi" sort="Shiihara, Takashi" uniqKey="Shiihara T" first="Takashi" last="Shiihara">Takashi Shiihara</name><affiliation><nlm:affiliation>Department of Neurology, Gunma Children's Medical Center, Gunma, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Yamazaki, Sawako" sort="Yamazaki, Sawako" uniqKey="Yamazaki S" first="Sawako" last="Yamazaki">Sawako Yamazaki</name><affiliation><nlm:affiliation>Department of Pediatrics, Niigata Minami Hospital, Niigata, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Ohta, Masayasu" sort="Ohta, Masayasu" uniqKey="Ohta M" first="Masayasu" last="Ohta">Masayasu Ohta</name><affiliation><nlm:affiliation>Department of Pediatrics, Aiseikai Memorial Ibaraki Welfare Medical Center, Ibaraki, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Yamagata, Takanori" sort="Yamagata, Takanori" uniqKey="Yamagata T" first="Takanori" last="Yamagata">Takanori Yamagata</name><affiliation><nlm:affiliation>Department of Pediatrics, Jichi Medical University, Tochigi, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Takanashi, Jun Ichi" sort="Takanashi, Jun Ichi" uniqKey="Takanashi J" first="Jun-Ichi" last="Takanashi">Jun-Ichi Takanashi</name><affiliation><nlm:affiliation>Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, Chiba, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Kubota, Masaya" sort="Kubota, Masaya" uniqKey="Kubota M" first="Masaya" last="Kubota">Masaya Kubota</name><affiliation><nlm:affiliation>Division of Neurology, National Center for Child Health and Development, Tokyo, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Oka, Akira" sort="Oka, Akira" uniqKey="Oka A" first="Akira" last="Oka">Akira Oka</name><affiliation><nlm:affiliation>Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Mizuguchi, Masashi" sort="Mizuguchi, Masashi" uniqKey="Mizuguchi M" first="Masashi" last="Mizuguchi">Masashi Mizuguchi</name><affiliation><nlm:affiliation>Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2019">2019</date><idno type="RBID">pubmed:31351739</idno><idno type="pmid">31351739</idno><idno type="doi">10.1016/j.braindev.2019.07.008</idno><idno type="wicri:Area/PubMed/Corpus">000472</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000472</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Thermolabile polymorphism of carnitine palmitoyltransferase 2: A genetic risk factor of overall acute encephalopathy.</title><author><name sortKey="Shibata, Akiko" sort="Shibata, Akiko" uniqKey="Shibata A" first="Akiko" last="Shibata">Akiko Shibata</name><affiliation><nlm:affiliation>Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan. Electronic address: asasano-tky@umin.ac.jp.</nlm:affiliation></affiliation></author><author><name sortKey="Kasai, Mariko" sort="Kasai, Mariko" uniqKey="Kasai M" first="Mariko" last="Kasai">Mariko Kasai</name><affiliation><nlm:affiliation>Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Hoshino, Ai" sort="Hoshino, Ai" uniqKey="Hoshino A" first="Ai" last="Hoshino">Ai Hoshino</name><affiliation><nlm:affiliation>Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Miyagawa, Taku" sort="Miyagawa, Taku" uniqKey="Miyagawa T" first="Taku" last="Miyagawa">Taku Miyagawa</name><affiliation><nlm:affiliation>Sleep Disorders Project, Department of Psychiatry and Behavioral Sciences, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan; Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Matsumoto, Hiroshi" sort="Matsumoto, Hiroshi" uniqKey="Matsumoto H" first="Hiroshi" last="Matsumoto">Hiroshi Matsumoto</name><affiliation><nlm:affiliation>Department of Pediatrics, National Defense Medical College, Saitama, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Yamanaka, Gaku" sort="Yamanaka, Gaku" uniqKey="Yamanaka G" first="Gaku" last="Yamanaka">Gaku Yamanaka</name><affiliation><nlm:affiliation>Department of Pediatrics, Tokyo Medical University, Tokyo, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Kikuchi, Kenjiro" sort="Kikuchi, Kenjiro" uniqKey="Kikuchi K" first="Kenjiro" last="Kikuchi">Kenjiro Kikuchi</name><affiliation><nlm:affiliation>Division of Neurology, Saitama Children's Medical Center, Saitama, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Kuki, Ichiro" sort="Kuki, Ichiro" uniqKey="Kuki I" first="Ichiro" last="Kuki">Ichiro Kuki</name><affiliation><nlm:affiliation>Department of Pediatrics, Osaka City General Hospital, Osaka, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Kumakura, Akira" sort="Kumakura, Akira" uniqKey="Kumakura A" first="Akira" last="Kumakura">Akira Kumakura</name><affiliation><nlm:affiliation>Department of Pediatrics, Kitano Hospital, Osaka, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Hara, Shinya" sort="Hara, Shinya" uniqKey="Hara S" first="Shinya" last="Hara">Shinya Hara</name><affiliation><nlm:affiliation>Department of Pediatrics, TOYOTA Memorial Hospital, Aichi, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Shiihara, Takashi" sort="Shiihara, Takashi" uniqKey="Shiihara T" first="Takashi" last="Shiihara">Takashi Shiihara</name><affiliation><nlm:affiliation>Department of Neurology, Gunma Children's Medical Center, Gunma, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Yamazaki, Sawako" sort="Yamazaki, Sawako" uniqKey="Yamazaki S" first="Sawako" last="Yamazaki">Sawako Yamazaki</name><affiliation><nlm:affiliation>Department of Pediatrics, Niigata Minami Hospital, Niigata, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Ohta, Masayasu" sort="Ohta, Masayasu" uniqKey="Ohta M" first="Masayasu" last="Ohta">Masayasu Ohta</name><affiliation><nlm:affiliation>Department of Pediatrics, Aiseikai Memorial Ibaraki Welfare Medical Center, Ibaraki, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Yamagata, Takanori" sort="Yamagata, Takanori" uniqKey="Yamagata T" first="Takanori" last="Yamagata">Takanori Yamagata</name><affiliation><nlm:affiliation>Department of Pediatrics, Jichi Medical University, Tochigi, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Takanashi, Jun Ichi" sort="Takanashi, Jun Ichi" uniqKey="Takanashi J" first="Jun-Ichi" last="Takanashi">Jun-Ichi Takanashi</name><affiliation><nlm:affiliation>Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, Chiba, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Kubota, Masaya" sort="Kubota, Masaya" uniqKey="Kubota M" first="Masaya" last="Kubota">Masaya Kubota</name><affiliation><nlm:affiliation>Division of Neurology, National Center for Child Health and Development, Tokyo, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Oka, Akira" sort="Oka, Akira" uniqKey="Oka A" first="Akira" last="Oka">Akira Oka</name><affiliation><nlm:affiliation>Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Mizuguchi, Masashi" sort="Mizuguchi, Masashi" uniqKey="Mizuguchi M" first="Masashi" last="Mizuguchi">Masashi Mizuguchi</name><affiliation><nlm:affiliation>Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Brain & development</title><idno type="eISSN">1872-7131</idno><imprint><date when="2019" type="published">2019</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alleles</term><term>Brain Diseases (genetics)</term><term>Carnitine O-Palmitoyltransferase (deficiency)</term><term>Carnitine O-Palmitoyltransferase (genetics)</term><term>Case-Control Studies</term><term>Child, Preschool</term><term>Encephalitis</term><term>Female</term><term>Gene Frequency (genetics)</term><term>Genome-Wide Association Study (methods)</term><term>Genotype</term><term>Humans</term><term>Infant</term><term>Japan</term><term>Male</term><term>Polymorphism, Genetic (genetics)</term><term>Risk Factors</term><term>Seizures</term></keywords><keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>Carnitine O-Palmitoyltransferase</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Japan</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Brain Diseases</term><term>Carnitine O-Palmitoyltransferase</term><term>Gene Frequency</term><term>Polymorphism, Genetic</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Genome-Wide Association Study</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Alleles</term><term>Case-Control Studies</term><term>Child, Preschool</term><term>Encephalitis</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Infant</term><term>Male</term><term>Risk Factors</term><term>Seizures</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Acute encephalopathy is an acute brain dysfunction after preceding infection, consisting of multiple syndromes. Some syndromes, such as acute encephalopathy with biphasic seizures and late reduced diffusion (AESD), are severe with poor outcome, whereas others, such as clinically mild encephalitis/encephalopathy with reversible splenial lesion (MERS), are mild with favorable outcome. Previous study reported the association of the thermolabile polymorphism in Carnitine Palmitoyltransferase 2 (CPT2) gene and severe syndromes of acute encephalopathy. To further explore the pathogenetic role of CPT2 in acute encephalopathy, we conducted a case-control association study of a typical thermolabile CPT2 polymorphism, rs2229291, in 416 patients of acute encephalopathy, including both severe and mild syndromes.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">31351739</PMID><DateCompleted><Year>2020</Year><Month>04</Month><Day>07</Day></DateCompleted><DateRevised><Year>2020</Year><Month>04</Month><Day>08</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1872-7131</ISSN><JournalIssue CitedMedium="Internet"><Volume>41</Volume><Issue>10</Issue><PubDate><Year>2019</Year><Month>Nov</Month></PubDate></JournalIssue><Title>Brain & development</Title><ISOAbbreviation>Brain Dev.</ISOAbbreviation></Journal><ArticleTitle>Thermolabile polymorphism of carnitine palmitoyltransferase 2: A genetic risk factor of overall acute encephalopathy.</ArticleTitle><Pagination><MedlinePgn>862-869</MedlinePgn></Pagination><ELocationID EIdType="pii" ValidYN="Y">S0387-7604(19)30208-6</ELocationID><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.braindev.2019.07.008</ELocationID><Abstract><AbstractText Label="OBJECTIVES" NlmCategory="OBJECTIVE">Acute encephalopathy is an acute brain dysfunction after preceding infection, consisting of multiple syndromes. Some syndromes, such as acute encephalopathy with biphasic seizures and late reduced diffusion (AESD), are severe with poor outcome, whereas others, such as clinically mild encephalitis/encephalopathy with reversible splenial lesion (MERS), are mild with favorable outcome. Previous study reported the association of the thermolabile polymorphism in Carnitine Palmitoyltransferase 2 (CPT2) gene and severe syndromes of acute encephalopathy. To further explore the pathogenetic role of CPT2 in acute encephalopathy, we conducted a case-control association study of a typical thermolabile CPT2 polymorphism, rs2229291, in 416 patients of acute encephalopathy, including both severe and mild syndromes.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">The case cohort consisted of 416 patients, including AESD, MERS, and other syndromes. The control subjects were 100 healthy Japanese. rs2229291 was genotyped by Sanger sequencing. Genetic distribution was compared between the patients and controls using Cochran-Armitage trend test.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Minor allele frequency of rs2229291 was significantly higher in AESD (p = 0.044), MERS (p = 0.015) and entire acute encephalopathy (p = 0.044) compared to the controls. The polymorphism showed no significant association with influenza virus, or with outcome.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">This study provided evidence that CPT2 is a susceptibility gene for overall acute encephalopathy, including both severe and mild syndromes, and suggested that impairment of mitochondrial metabolism is common to various syndromes of acute encephalopathy.</AbstractText><CopyrightInformation>Copyright © 2019 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Shibata</LastName><ForeName>Akiko</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan. Electronic address: asasano-tky@umin.ac.jp.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kasai</LastName><ForeName>Mariko</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hoshino</LastName><ForeName>Ai</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Miyagawa</LastName><ForeName>Taku</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Sleep Disorders Project, Department of Psychiatry and Behavioral Sciences, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan; Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Matsumoto</LastName><ForeName>Hiroshi</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, National Defense Medical College, Saitama, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Yamanaka</LastName><ForeName>Gaku</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Tokyo Medical University, Tokyo, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kikuchi</LastName><ForeName>Kenjiro</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Division of Neurology, Saitama Children's Medical Center, Saitama, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kuki</LastName><ForeName>Ichiro</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Osaka City General Hospital, Osaka, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kumakura</LastName><ForeName>Akira</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Kitano Hospital, Osaka, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hara</LastName><ForeName>Shinya</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, TOYOTA Memorial Hospital, Aichi, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Shiihara</LastName><ForeName>Takashi</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Department of Neurology, Gunma Children's Medical Center, Gunma, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Yamazaki</LastName><ForeName>Sawako</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Niigata Minami Hospital, Niigata, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ohta</LastName><ForeName>Masayasu</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Aiseikai Memorial Ibaraki Welfare Medical Center, Ibaraki, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Yamagata</LastName><ForeName>Takanori</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Jichi Medical University, Tochigi, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Takanashi</LastName><ForeName>Jun-Ichi</ForeName><Initials>JI</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, Chiba, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kubota</LastName><ForeName>Masaya</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Division of Neurology, National Center for Child Health and Development, Tokyo, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Oka</LastName><ForeName>Akira</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mizuguchi</LastName><ForeName>Masashi</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2019</Year><Month>07</Month><Day>24</Day></ArticleDate></Article><MedlineJournalInfo><Country>Netherlands</Country><MedlineTA>Brain Dev</MedlineTA><NlmUniqueID>7909235</NlmUniqueID><ISSNLinking>0387-7604</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 2.3.1.21</RegistryNumber><NameOfSubstance UI="D002334">Carnitine O-Palmitoyltransferase</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000483" MajorTopicYN="N">Alleles</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001927" MajorTopicYN="N">Brain Diseases</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D002334" MajorTopicYN="N">Carnitine O-Palmitoyltransferase</DescriptorName><QualifierName UI="Q000172" MajorTopicYN="N">deficiency</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D016022" MajorTopicYN="N">Case-Control Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004660" MajorTopicYN="N">Encephalitis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005787" MajorTopicYN="N">Gene Frequency</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D055106" MajorTopicYN="N">Genome-Wide Association Study</DescriptorName><QualifierName UI="Q000379" MajorTopicYN="N">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005838" MajorTopicYN="N">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007564" MajorTopicYN="N" Type="Geographic">Japan</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D011110" MajorTopicYN="N">Polymorphism, Genetic</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D012307" MajorTopicYN="N">Risk Factors</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012640" MajorTopicYN="N">Seizures</DescriptorName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Acute encephalitis with refractory</Keyword><Keyword MajorTopicYN="N">Acute encephalopathy</Keyword><Keyword MajorTopicYN="N">Acute encephalopathy with biphasic seizures and late reduced diffusion</Keyword><Keyword MajorTopicYN="N">Acute necrotizing encephalopathy</Keyword><Keyword MajorTopicYN="N">Carnitine palmitoyltransferase 2</Keyword><Keyword MajorTopicYN="N">Clinically mild encephalitis/encephalopathy with reversible splenial lesion</Keyword><Keyword MajorTopicYN="N">Energy failure</Keyword><Keyword MajorTopicYN="N">Genetic risk factor</Keyword><Keyword MajorTopicYN="N">Predisposing factor</Keyword><Keyword MajorTopicYN="N">Repetitive partial seizures/febrile infection-related epileptic syndrome</Keyword><Keyword MajorTopicYN="N">Susceptibility gene</Keyword><Keyword MajorTopicYN="N">Thermolability</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2019</Year><Month>03</Month><Day>28</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2019</Year><Month>06</Month><Day>10</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2019</Year><Month>07</Month><Day>10</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2019</Year><Month>7</Month><Day>29</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2020</Year><Month>4</Month><Day>9</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2019</Year><Month>7</Month><Day>29</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">31351739</ArticleId><ArticleId IdType="pii">S0387-7604(19)30208-6</ArticleId><ArticleId IdType="doi">10.1016/j.braindev.2019.07.008</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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