المؤلفون: Kasai M; Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan. kasaim-tky@umin.ac.jp.; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan. kasaim-tky@umin.ac.jp., Omae Y; Genome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan., Khor SS; Genome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan., Shibata A; 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., Hoshino A; Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan., Mizuguchi M; Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.; Department of Pediatrics, National Rehabilitation Center for Children with Disabilities, Tokyo, Japan., Tokunaga K; Genome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan.

المصدر: Genes and immunity [Genes Immun] 2022 Jun; Vol. 23 (3-4), pp. 123-128. Date of Electronic Publication: 2022 Apr 14.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 100953417 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5470 (Electronic) Linking ISSN: 14664879 NLM ISO Abbreviation: Genes Immun Subsets: MEDLINE

مواضيع طبية MeSH: Brain Diseases* , Genome-Wide Association Study*, Child ; Child, Preschool ; HLA-DP beta-Chains/genetics ; Histocompatibility Antigens Class II ; Humans ; Infant ; Seizures/pathology

المؤلفون: Kasai M; Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, School of Medicine Bldg. 3, Rm. N205, 7-3-1 Hongo Bunkyo-ku, Tokyo, 113-0033, Japan. kasaim-tky@umin.ac.jp.; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan. kasaim-tky@umin.ac.jp., Omae Y; Genome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan., Kawai Y; Genome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan., Shibata A; Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, School of Medicine Bldg. 3, Rm. N205, 7-3-1 Hongo Bunkyo-ku, Tokyo, 113-0033, Japan.; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan., Hoshino A; Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, School of Medicine Bldg. 3, Rm. N205, 7-3-1 Hongo Bunkyo-ku, Tokyo, 113-0033, Japan., Mizuguchi M; Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, School of Medicine Bldg. 3, Rm. N205, 7-3-1 Hongo Bunkyo-ku, Tokyo, 113-0033, Japan., Tokunaga K; Genome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan.

المصدر: Scientific reports [Sci Rep] 2022 Jan 25; Vol. 12 (1), pp. 1332. Date of Electronic Publication: 2022 Jan 25.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Brain Diseases/*genetics , Protein Serine-Threonine Kinases/*genetics , Seizures/*genetics, Adolescent ; Adult ; Biomarkers/metabolism ; Child ; Female ; Humans ; Japan ; Male ; Young Adult

المؤلفون: Ohashi E; Division of Neurology, National Center for Child Health and Development, Tokyo, Japan. Electronic address: ohashi-eri@ncchd.go.jp., Hayakawa I; Division of Neurology, National Center for Child Health and Development, Tokyo, Japan., Murofushi Y; Division of Neurology, National Center for Child Health and Development, Tokyo, Japan., Kawai M; Division of Neurology, National Center for Child Health and Development, Tokyo, Japan., Suzuki-Muromoto S; Division of Neurology, National Center for Child Health and Development, Tokyo, Japan., Abe Y; Division of Neurology, National Center for Child Health and Development, Tokyo, Japan., Yoshida M; Division of Infectious Diseases, National Center for Child Health and Development, Tokyo, Japan., Kono N; Office for Infection Control, National Center for Child Health and Development, Tokyo, Japan., Kosaki R; Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan., Hoshino A; Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan., Mizuguchi M; Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan., Kubota M; Division of Neurology, National Center for Child Health and Development, Tokyo, Japan.

المصدر: Brain & development [Brain Dev] 2021 Sep; Vol. 43 (8), pp. 873-878. Date of Electronic Publication: 2021 May 28.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7909235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7131 (Electronic) Linking ISSN: 03877604 NLM ISO Abbreviation: Brain Dev Subsets: MEDLINE

مواضيع طبية MeSH: Brain Diseases/*genetics , Brain Diseases/*pathology , Carnitine O-Palmitoyltransferase/*genetics , Molecular Chaperones/*genetics , Nuclear Pore Complex Proteins/*genetics, Asian People ; Humans ; Infant ; Japan ; Leukoencephalitis, Acute Hemorrhagic/genetics ; Leukoencephalitis, Acute Hemorrhagic/pathology ; Male ; Necrosis ; Recurrence

المؤلفون: Kasai M; 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: kasaim-tky@umin.ac.jp., Shibata A; 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., Hoshino A; Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan., Maegaki Y; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan., Yamanouchi H; Department of Pediatrics, Comprehensive Epilepsy Center, Saitama Medical University, Saitama, Japan., Takanashi JI; Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, Chiba, Japan., Yamagata T; Department of Pediatrics, Jichi Medical University, Tochigi, Japan., Sakuma H; Department of Brain Development and Neural Regeneration, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan., Okumura A; Department of Pediatrics, Aichi Medical University, Aichi, Japan., Nagase H; Division of General Pediatrics, Department of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan., Ishii A; Department of Pediatrics School of Medicine, Fukuoka University, Fukuoka, Japan., Goto T; Division of Neurology, Kanagawa Children's Medical Center, Kanagawa, Japan., Oka A; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan., Mizuguchi M; Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

المصدر: Brain & development [Brain Dev] 2020 Aug; Vol. 42 (7), pp. 508-514. Date of Electronic Publication: 2020 Apr 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7909235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7131 (Electronic) Linking ISSN: 03877604 NLM ISO Abbreviation: Brain Dev Subsets: MEDLINE

مواضيع طبية MeSH: Brain Diseases/*diagnosis , Brain Diseases/*epidemiology , Influenza, Human/*epidemiology, Acute Disease ; Adolescent ; Age of Onset ; Brain Diseases/etiology ; Child ; Child, Preschool ; Encephalitis/epidemiology ; Epidemiological Monitoring ; Female ; Health Surveys ; Hospitals/statistics & numerical data ; Humans ; Infant ; Infant, Newborn ; Influenza, Human/complications ; Japan/epidemiology ; Male ; Retrospective Studies ; Seizures/epidemiology

المؤلفون: Shibata A; Department of Developmental Medical Sciences, School of International Health, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan; Department of Pediatrics, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan. Electronic address: asasano-tky@umin.ac.jp., Kasai M; Department of Developmental Medical Sciences, School of International Health, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan; Department of Pediatrics, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan., Terashima H; Department of Pediatrics, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan; Division of Neurology, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan., Hoshino A; Department of Developmental Medical Sciences, School of International Health, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan., Miyagawa T; Sleep Disorders Project, Department of Psychiatry and Behavioral Sciences, Metropolitan Institute of Medical Science, 2-1-6 Kamikitazawa, Setagaya-ku, Tokyo 156-8506, Japan; Department of Human Genetics, School of International Health, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan., Kikuchi K; Division of Neurology, Saitama Children's Medical Center, 1-2 Shintoshin, Chuo-ku, Saitama-shi, Saitama 330-8777, Japan., Ishii A; Department of Pediatrics, Fukuoka University, 8-19-1 Nanakuma, Jonan-ku, Fukuoka-shi, Fukuoka 814-0180, Japan., Matsumoto H; Department of Pediatrics, National Defense Medical College, 3-2 Namiki, Tokorozawa-shi, Saitama 359-8513, Japan., Kubota M; Division of Neurology, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan., Hirose S; Department of Pediatrics, Fukuoka University, 8-19-1 Nanakuma, Jonan-ku, Fukuoka-shi, Fukuoka 814-0180, Japan., Oka A; Department of Pediatrics, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan., Mizuguchi M; Department of Developmental Medical Sciences, School of International Health, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan.

المصدر: Journal of the neurological sciences [J Neurol Sci] 2020 Jul 15; Vol. 414, pp. 116808. Date of Electronic Publication: 2020 Apr 02.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5883 (Electronic) Linking ISSN: 0022510X NLM ISO Abbreviation: J Neurol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Brain Diseases*/genetics , Epilepsy*/genetics , Seizures, Febrile*/genetics, Case-Control Studies ; Child ; Humans ; Infant ; KCNQ2 Potassium Channel/genetics ; NAV1.1 Voltage-Gated Sodium Channel/genetics ; Seizures

المؤلفون: Shibata A; 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., Kasai M; 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., Hoshino A; Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan., Miyagawa T; 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., Matsumoto H; Department of Pediatrics, National Defense Medical College, Saitama, Japan., Yamanaka G; Department of Pediatrics, Tokyo Medical University, Tokyo, Japan., Kikuchi K; Division of Neurology, Saitama Children's Medical Center, Saitama, Japan., Kuki I; Department of Pediatrics, Osaka City General Hospital, Osaka, Japan., Kumakura A; Department of Pediatrics, Kitano Hospital, Osaka, Japan., Hara S; Department of Pediatrics, TOYOTA Memorial Hospital, Aichi, Japan., Shiihara T; Department of Neurology, Gunma Children's Medical Center, Gunma, Japan., Yamazaki S; Department of Pediatrics, Niigata Minami Hospital, Niigata, Japan., Ohta M; Department of Pediatrics, Aiseikai Memorial Ibaraki Welfare Medical Center, Ibaraki, Japan., Yamagata T; Department of Pediatrics, Jichi Medical University, Tochigi, Japan., Takanashi JI; Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, Chiba, Japan., Kubota M; Division of Neurology, National Center for Child Health and Development, Tokyo, Japan., Oka A; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan., Mizuguchi M; Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

المصدر: Brain & development [Brain Dev] 2019 Nov; Vol. 41 (10), pp. 862-869. Date of Electronic Publication: 2019 Jul 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7909235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7131 (Electronic) Linking ISSN: 03877604 NLM ISO Abbreviation: Brain Dev Subsets: MEDLINE

مواضيع طبية MeSH: Brain Diseases/*genetics , Carnitine O-Palmitoyltransferase/*genetics, Alleles ; Carnitine O-Palmitoyltransferase/deficiency ; 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

المؤلفون: Kobayashi Y; Department of Neurology, Nagano Red Cross Hospital, 5-22-1, Wakasato, Nagano 380-8582, Japan. Electronic address: juriruri@shinshu-u.ac.jp., Kanazawa H; Department of Neurology, Nagano Red Cross Hospital, 5-22-1, Wakasato, Nagano 380-8582, Japan., Hoshino A; Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan., Takamatsu R; Department of Neurology, Nagano Red Cross Hospital, 5-22-1, Wakasato, Nagano 380-8582, Japan., Watanabe R; Department of Neurology, Nagano Red Cross Hospital, 5-22-1, Wakasato, Nagano 380-8582, Japan., Hoshi K; Department of Neurology, Nagano Red Cross Hospital, 5-22-1, Wakasato, Nagano 380-8582, Japan., Ishii W; Department of Neurology, Nagano Red Cross Hospital, 5-22-1, Wakasato, Nagano 380-8582, Japan., Yahikozawa H; Department of Neurology, Nagano Red Cross Hospital, 5-22-1, Wakasato, Nagano 380-8582, Japan., Mizuguchi M; Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan., Sato S; Department of Neurology, Nagano Red Cross Hospital, 5-22-1, Wakasato, Nagano 380-8582, Japan.

المصدر: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia [J Clin Neurosci] 2019 Mar; Vol. 61, pp. 264-266. Date of Electronic Publication: 2018 Nov 22.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Churchill Livingstone Country of Publication: Scotland NLM ID: 9433352 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2653 (Electronic) Linking ISSN: 09675868 NLM ISO Abbreviation: J Clin Neurosci Subsets: MEDLINE

مواضيع طبية MeSH: Brain Diseases/*genetics , Carnitine O-Palmitoyltransferase/*genetics , Spinal Cord/*pathology, Genetic Variation ; Humans ; Male ; Middle Aged

المؤلفون: Nishimura N; Division of Endocrinology and Metabolism, Aichi Children's Health and Medical Center, Aichi, Japan.; Department of Pediatrics, Otsu Red Cross Hospital, Shiga, Japan., Higuchi Y; Department of Pediatrics, Otsu Red Cross Hospital, Shiga, Japan., Kimura N; Department of Pediatrics, Otsu Red Cross Hospital, Shiga, Japan., Nozaki F; Department of Pediatrics, Shiga Medical Center for Children, Shiga, Japan., Kumada T; Department of Pediatrics, Shiga Medical Center for Children, Shiga, Japan., Hoshino A; Department of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, Tokyo, Japan., Saitoh M; Department of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, Tokyo, Japan., Mizuguchi M; Department of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.

المصدر: Pediatrics international : official journal of the Japan Pediatric Society [Pediatr Int] 2016 Nov; Vol. 58 (11), pp. 1215-1218.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Blackwell Science Asia Country of Publication: Australia NLM ID: 100886002 Publication Model: Print Cited Medium: Internet ISSN: 1442-200X (Electronic) Linking ISSN: 13288067 NLM ISO Abbreviation: Pediatr Int Subsets: MEDLINE

مواضيع طبية MeSH: Mutation* , Siblings*, Brain/*diagnostic imaging , Brain Diseases/*genetics , DNA/*genetics , Molecular Chaperones/*genetics , Nuclear Pore Complex Proteins/*genetics, Acute Disease ; Brain Diseases/diagnosis ; Brain Diseases/metabolism ; DNA Mutational Analysis ; Fatal Outcome ; Humans ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Molecular Chaperones/metabolism ; Nuclear Pore Complex Proteins/metabolism

المؤلفون: Saitoh M; Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan. Electronic address: makisaito-tky@umin.ac.jp., Ishii A; Department of Pediatrics, Fukuoka University, Fukuoka, Japan., Ihara Y; Department of Pediatrics, Fukuoka University, Fukuoka, Japan., Hoshino A; Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan., Terashima H; Division of Neurology, National Center for Child Health and Development, Tokyo, Japan., Kubota M; Division of Neurology, National Center for Child Health and Development, Tokyo, Japan., Kikuchi K; Division of Neurology, Saitama Children's Medical Center, Saitama, Japan., Yamanaka G; Department of Pediatrics, Tokyo Medical University, Tokyo, Japan., Amemiya K; Department of Pediatrics, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan., Hirose S; Department of Pediatrics, Fukuoka University, Fukuoka, Japan., Mizuguchi M; Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

المصدر: Epilepsy research [Epilepsy Res] 2015 Nov; Vol. 117, pp. 1-6. Date of Electronic Publication: 2015 Aug 06.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Science Publishers Country of Publication: Netherlands NLM ID: 8703089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-6844 (Electronic) Linking ISSN: 09201211 NLM ISO Abbreviation: Epilepsy Res Subsets: MEDLINE

مواضيع طبية MeSH: Brain Diseases/*genetics , NAV1.1 Voltage-Gated Sodium Channel/*genetics , NAV1.2 Voltage-Gated Sodium Channel/*genetics , Seizures, Febrile/*genetics, Child ; Child, Preschool ; Female ; Genetic Predisposition to Disease ; Humans ; Infant ; Male ; Mutation, Missense