Thermolabile polymorphism of carnitine palmitoyltransferase 2: A genetic risk factor of overall acute encephalopathy.
Identifieur interne : 002287 ( Ncbi/Merge ); précédent : 002286; suivant : 002288Thermolabile polymorphism of carnitine palmitoyltransferase 2: A genetic risk factor of overall acute encephalopathy.
Auteurs : Akiko Shibata [Japon] ; Mariko Kasai [Japon] ; Ai Hoshino [Japon] ; Taku Miyagawa [Japon] ; Hiroshi Matsumoto [Japon] ; Gaku Yamanaka [Japon] ; Kenjiro Kikuchi [Japon] ; Ichiro Kuki [Japon] ; Akira Kumakura [Japon] ; Shinya Hara [Japon] ; Takashi Shiihara [Japon] ; Sawako Yamazaki [Japon] ; Masayasu Ohta [Japon] ; Takanori Yamagata [Japon] ; Jun-Ichi Takanashi [Japon] ; Masaya Kubota [Japon] ; Akira Oka [Japon] ; Masashi Mizuguchi [Japon]Source :
- Brain & development [ 1872-7131 ] ; 2019.
Descripteurs français
- KwdFr :
- Allèles, Carnitine O-palmitoyltransferase (déficit), Carnitine O-palmitoyltransferase (génétique), Crises épileptiques, Encéphalite, Encéphalopathies (génétique), Enfant d'âge préscolaire, Facteurs de risque, Femelle, Fréquence d'allèle (génétique), Génotype, Humains, Japon, Mâle, Nourrisson, Polymorphisme génétique (génétique), Étude d'association pangénomique (), Études cas-témoins.
- MESH :
- déficit : Carnitine O-palmitoyltransferase.
- génétique : Carnitine O-palmitoyltransferase, Encéphalopathies, Fréquence d'allèle, Polymorphisme génétique.
- Allèles, Crises épileptiques, Encéphalite, Enfant d'âge préscolaire, Facteurs de risque, Femelle, Génotype, Humains, Japon, Mâle, Nourrisson, Étude d'association pangénomique, Études cas-témoins.
- Wicri :
- geographic : Japon.
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
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pubmed:31351739Le document en format XML
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type="university">Université de Tokyo</orgName></affiliation></author><author><name sortKey="Miyagawa, Taku" sort="Miyagawa, Taku" uniqKey="Miyagawa T" first="Taku" last="Miyagawa">Taku Miyagawa</name><affiliation wicri:level="4"><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><country xml:lang="fr">Japon</country><wicri:regionArea>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</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName><orgName type="university">Université de Tokyo</orgName></affiliation></author><author><name sortKey="Matsumoto, Hiroshi" sort="Matsumoto, Hiroshi" uniqKey="Matsumoto H" first="Hiroshi" last="Matsumoto">Hiroshi Matsumoto</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, National Defense Medical College, Saitama, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, National Defense Medical College, Saitama</wicri:regionArea><wicri:noRegion>Saitama</wicri:noRegion></affiliation></author><author><name sortKey="Yamanaka, Gaku" sort="Yamanaka, Gaku" uniqKey="Yamanaka G" first="Gaku" last="Yamanaka">Gaku Yamanaka</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatrics, Tokyo Medical University, Tokyo, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Tokyo Medical University, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName></affiliation></author><author><name sortKey="Kikuchi, Kenjiro" sort="Kikuchi, Kenjiro" uniqKey="Kikuchi K" first="Kenjiro" last="Kikuchi">Kenjiro Kikuchi</name><affiliation wicri:level="1"><nlm:affiliation>Division of Neurology, Saitama Children's Medical Center, Saitama, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Division of Neurology, Saitama Children's Medical Center, Saitama</wicri:regionArea><wicri:noRegion>Saitama</wicri:noRegion></affiliation></author><author><name sortKey="Kuki, Ichiro" sort="Kuki, Ichiro" uniqKey="Kuki I" first="Ichiro" last="Kuki">Ichiro Kuki</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Osaka City General Hospital, Osaka, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Osaka City General Hospital, Osaka</wicri:regionArea><wicri:noRegion>Osaka</wicri:noRegion></affiliation></author><author><name sortKey="Kumakura, Akira" sort="Kumakura, Akira" uniqKey="Kumakura A" first="Akira" last="Kumakura">Akira Kumakura</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Kitano Hospital, Osaka, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Kitano Hospital, Osaka</wicri:regionArea><wicri:noRegion>Osaka</wicri:noRegion></affiliation></author><author><name sortKey="Hara, Shinya" sort="Hara, Shinya" uniqKey="Hara S" first="Shinya" last="Hara">Shinya Hara</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, TOYOTA Memorial Hospital, Aichi, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, TOYOTA Memorial Hospital, Aichi</wicri:regionArea><wicri:noRegion>Aichi</wicri:noRegion></affiliation></author><author><name sortKey="Shiihara, Takashi" sort="Shiihara, Takashi" uniqKey="Shiihara T" first="Takashi" last="Shiihara">Takashi Shiihara</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Gunma Children's Medical Center, Gunma, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Gunma Children's Medical Center, Gunma</wicri:regionArea><wicri:noRegion>Gunma</wicri:noRegion></affiliation></author><author><name sortKey="Yamazaki, Sawako" sort="Yamazaki, Sawako" uniqKey="Yamazaki S" first="Sawako" last="Yamazaki">Sawako Yamazaki</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Niigata Minami Hospital, Niigata, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Niigata Minami Hospital, Niigata</wicri:regionArea><wicri:noRegion>Niigata</wicri:noRegion></affiliation></author><author><name sortKey="Ohta, Masayasu" sort="Ohta, Masayasu" uniqKey="Ohta M" first="Masayasu" last="Ohta">Masayasu Ohta</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Aiseikai Memorial Ibaraki Welfare Medical Center, Ibaraki, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Aiseikai Memorial Ibaraki Welfare Medical Center, Ibaraki</wicri:regionArea><wicri:noRegion>Ibaraki</wicri:noRegion></affiliation></author><author><name sortKey="Yamagata, Takanori" sort="Yamagata, Takanori" uniqKey="Yamagata T" first="Takanori" last="Yamagata">Takanori Yamagata</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Jichi Medical University, Tochigi, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Jichi Medical University, Tochigi</wicri:regionArea><wicri:noRegion>Tochigi</wicri:noRegion></affiliation></author><author><name sortKey="Takanashi, Jun Ichi" sort="Takanashi, Jun Ichi" uniqKey="Takanashi J" 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Kantō</region></placeName></affiliation></author><author><name sortKey="Oka, Akira" sort="Oka, Akira" uniqKey="Oka A" first="Akira" last="Oka">Akira Oka</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName><orgName type="university">Université de Tokyo</orgName></affiliation></author><author><name sortKey="Mizuguchi, Masashi" sort="Mizuguchi, Masashi" uniqKey="Mizuguchi M" first="Masashi" last="Mizuguchi">Masashi Mizuguchi</name><affiliation wicri:level="4"><nlm:affiliation>Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName><orgName type="university">Université de Tokyo</orgName></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><idno type="wicri:Area/PubMed/Curation">000472</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000472</idno><idno type="wicri:Area/PubMed/Checkpoint">000348</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000348</idno><idno type="wicri:Area/Ncbi/Merge">002287</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 wicri:level="4"><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><country xml:lang="fr">Japon</country><wicri:regionArea>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</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName><orgName type="university">Université de Tokyo</orgName></affiliation></author><author><name sortKey="Kasai, Mariko" sort="Kasai, Mariko" uniqKey="Kasai M" first="Mariko" last="Kasai">Mariko Kasai</name><affiliation wicri:level="4"><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><country xml:lang="fr">Japon</country><wicri:regionArea>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</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName><orgName type="university">Université de Tokyo</orgName></affiliation></author><author><name sortKey="Hoshino, Ai" sort="Hoshino, Ai" uniqKey="Hoshino A" first="Ai" last="Hoshino">Ai Hoshino</name><affiliation wicri:level="4"><nlm:affiliation>Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName><orgName type="university">Université de Tokyo</orgName></affiliation></author><author><name sortKey="Miyagawa, Taku" sort="Miyagawa, Taku" uniqKey="Miyagawa T" first="Taku" last="Miyagawa">Taku Miyagawa</name><affiliation wicri:level="4"><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><country xml:lang="fr">Japon</country><wicri:regionArea>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</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName><orgName type="university">Université de Tokyo</orgName></affiliation></author><author><name sortKey="Matsumoto, Hiroshi" sort="Matsumoto, Hiroshi" uniqKey="Matsumoto H" first="Hiroshi" last="Matsumoto">Hiroshi Matsumoto</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, National Defense Medical College, Saitama, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, National Defense Medical College, Saitama</wicri:regionArea><wicri:noRegion>Saitama</wicri:noRegion></affiliation></author><author><name sortKey="Yamanaka, Gaku" sort="Yamanaka, Gaku" uniqKey="Yamanaka G" first="Gaku" last="Yamanaka">Gaku Yamanaka</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatrics, Tokyo Medical University, Tokyo, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Tokyo Medical University, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName></affiliation></author><author><name sortKey="Kikuchi, Kenjiro" sort="Kikuchi, Kenjiro" uniqKey="Kikuchi K" first="Kenjiro" last="Kikuchi">Kenjiro Kikuchi</name><affiliation wicri:level="1"><nlm:affiliation>Division of Neurology, Saitama Children's Medical Center, Saitama, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Division of Neurology, Saitama Children's Medical Center, Saitama</wicri:regionArea><wicri:noRegion>Saitama</wicri:noRegion></affiliation></author><author><name sortKey="Kuki, Ichiro" sort="Kuki, Ichiro" uniqKey="Kuki I" first="Ichiro" last="Kuki">Ichiro Kuki</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Osaka City General Hospital, Osaka, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Osaka City General Hospital, Osaka</wicri:regionArea><wicri:noRegion>Osaka</wicri:noRegion></affiliation></author><author><name sortKey="Kumakura, Akira" sort="Kumakura, Akira" uniqKey="Kumakura A" first="Akira" last="Kumakura">Akira Kumakura</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Kitano Hospital, Osaka, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Kitano Hospital, Osaka</wicri:regionArea><wicri:noRegion>Osaka</wicri:noRegion></affiliation></author><author><name sortKey="Hara, Shinya" sort="Hara, Shinya" uniqKey="Hara S" first="Shinya" last="Hara">Shinya Hara</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, TOYOTA Memorial Hospital, Aichi, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, TOYOTA Memorial Hospital, Aichi</wicri:regionArea><wicri:noRegion>Aichi</wicri:noRegion></affiliation></author><author><name sortKey="Shiihara, Takashi" sort="Shiihara, Takashi" uniqKey="Shiihara T" first="Takashi" last="Shiihara">Takashi Shiihara</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Gunma Children's Medical Center, Gunma, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Gunma Children's Medical Center, Gunma</wicri:regionArea><wicri:noRegion>Gunma</wicri:noRegion></affiliation></author><author><name sortKey="Yamazaki, Sawako" sort="Yamazaki, Sawako" uniqKey="Yamazaki S" first="Sawako" last="Yamazaki">Sawako Yamazaki</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Niigata Minami Hospital, Niigata, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Niigata Minami Hospital, Niigata</wicri:regionArea><wicri:noRegion>Niigata</wicri:noRegion></affiliation></author><author><name sortKey="Ohta, Masayasu" sort="Ohta, Masayasu" uniqKey="Ohta M" first="Masayasu" last="Ohta">Masayasu Ohta</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Aiseikai Memorial Ibaraki Welfare Medical Center, Ibaraki, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Aiseikai Memorial Ibaraki Welfare Medical Center, Ibaraki</wicri:regionArea><wicri:noRegion>Ibaraki</wicri:noRegion></affiliation></author><author><name sortKey="Yamagata, Takanori" sort="Yamagata, Takanori" uniqKey="Yamagata T" first="Takanori" last="Yamagata">Takanori Yamagata</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Jichi Medical University, Tochigi, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Jichi Medical University, Tochigi</wicri:regionArea><wicri:noRegion>Tochigi</wicri:noRegion></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 wicri:level="1"><nlm:affiliation>Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, Chiba, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, Chiba</wicri:regionArea><wicri:noRegion>Chiba</wicri:noRegion></affiliation></author><author><name sortKey="Kubota, Masaya" sort="Kubota, Masaya" uniqKey="Kubota M" first="Masaya" last="Kubota">Masaya Kubota</name><affiliation wicri:level="3"><nlm:affiliation>Division of Neurology, National Center for Child Health and Development, Tokyo, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Division of Neurology, National Center for Child Health and Development, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName></affiliation></author><author><name sortKey="Oka, Akira" sort="Oka, Akira" uniqKey="Oka A" first="Akira" last="Oka">Akira Oka</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName><orgName type="university">Université de Tokyo</orgName></affiliation></author><author><name sortKey="Mizuguchi, Masashi" sort="Mizuguchi, Masashi" uniqKey="Mizuguchi M" first="Masashi" last="Mizuguchi">Masashi Mizuguchi</name><affiliation wicri:level="4"><nlm:affiliation>Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName><orgName type="university">Université de Tokyo</orgName></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="KwdFr" xml:lang="fr"><term>Allèles</term><term>Carnitine O-palmitoyltransferase (déficit)</term><term>Carnitine O-palmitoyltransferase (génétique)</term><term>Crises épileptiques</term><term>Encéphalite</term><term>Encéphalopathies (génétique)</term><term>Enfant d'âge préscolaire</term><term>Facteurs de risque</term><term>Femelle</term><term>Fréquence d'allèle (génétique)</term><term>Génotype</term><term>Humains</term><term>Japon</term><term>Mâle</term><term>Nourrisson</term><term>Polymorphisme génétique (génétique)</term><term>Étude d'association pangénomique ()</term><term>Études cas-témoins</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="déficit" xml:lang="fr"><term>Carnitine O-palmitoyltransferase</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="génétique" xml:lang="fr"><term>Carnitine O-palmitoyltransferase</term><term>Encéphalopathies</term><term>Fréquence d'allèle</term><term>Polymorphisme génétique</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><keywords scheme="MESH" xml:lang="fr"><term>Allèles</term><term>Crises épileptiques</term><term>Encéphalite</term><term>Enfant d'âge préscolaire</term><term>Facteurs de risque</term><term>Femelle</term><term>Génotype</term><term>Humains</term><term>Japon</term><term>Mâle</term><term>Nourrisson</term><term>Étude d'association pangénomique</term><term>Études cas-témoins</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Japon</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><affiliations><list><country><li>Japon</li></country><region><li>Région de Kantō</li></region><settlement><li>Tokyo</li></settlement><orgName><li>Université de Tokyo</li></orgName></list><tree><country name="Japon"><region name="Région de Kantō"><name sortKey="Shibata, Akiko" sort="Shibata, Akiko" uniqKey="Shibata A" first="Akiko" last="Shibata">Akiko Shibata</name></region><name sortKey="Hara, Shinya" sort="Hara, Shinya" uniqKey="Hara S" first="Shinya" last="Hara">Shinya Hara</name><name sortKey="Hoshino, Ai" sort="Hoshino, Ai" uniqKey="Hoshino A" first="Ai" last="Hoshino">Ai Hoshino</name><name sortKey="Kasai, Mariko" sort="Kasai, Mariko" uniqKey="Kasai M" first="Mariko" last="Kasai">Mariko Kasai</name><name sortKey="Kikuchi, Kenjiro" sort="Kikuchi, Kenjiro" uniqKey="Kikuchi K" first="Kenjiro" last="Kikuchi">Kenjiro Kikuchi</name><name sortKey="Kubota, Masaya" sort="Kubota, Masaya" uniqKey="Kubota M" first="Masaya" last="Kubota">Masaya Kubota</name><name sortKey="Kuki, Ichiro" sort="Kuki, Ichiro" uniqKey="Kuki I" first="Ichiro" last="Kuki">Ichiro Kuki</name><name sortKey="Kumakura, Akira" sort="Kumakura, Akira" uniqKey="Kumakura A" first="Akira" last="Kumakura">Akira Kumakura</name><name sortKey="Matsumoto, Hiroshi" sort="Matsumoto, Hiroshi" uniqKey="Matsumoto H" first="Hiroshi" last="Matsumoto">Hiroshi Matsumoto</name><name sortKey="Miyagawa, Taku" sort="Miyagawa, Taku" uniqKey="Miyagawa T" first="Taku" last="Miyagawa">Taku Miyagawa</name><name sortKey="Mizuguchi, Masashi" sort="Mizuguchi, Masashi" uniqKey="Mizuguchi M" first="Masashi" last="Mizuguchi">Masashi Mizuguchi</name><name sortKey="Ohta, Masayasu" sort="Ohta, Masayasu" uniqKey="Ohta M" first="Masayasu" last="Ohta">Masayasu Ohta</name><name sortKey="Oka, Akira" sort="Oka, Akira" uniqKey="Oka A" first="Akira" last="Oka">Akira Oka</name><name sortKey="Shiihara, Takashi" sort="Shiihara, Takashi" uniqKey="Shiihara T" first="Takashi" last="Shiihara">Takashi Shiihara</name><name sortKey="Takanashi, Jun Ichi" sort="Takanashi, Jun Ichi" uniqKey="Takanashi J" first="Jun-Ichi" last="Takanashi">Jun-Ichi Takanashi</name><name sortKey="Yamagata, Takanori" sort="Yamagata, Takanori" uniqKey="Yamagata T" first="Takanori" last="Yamagata">Takanori Yamagata</name><name sortKey="Yamanaka, Gaku" sort="Yamanaka, Gaku" uniqKey="Yamanaka G" first="Gaku" last="Yamanaka">Gaku Yamanaka</name><name sortKey="Yamazaki, Sawako" sort="Yamazaki, Sawako" uniqKey="Yamazaki S" first="Sawako" last="Yamazaki">Sawako Yamazaki</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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