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Real-world clinical utility of exome sequencing in pediatric drug-resistant epilepsy: Experience from a tertiary center in Thailand
作者Chanikhan Sattaporn; Apasri Lusawat; Panisra Sudachan; Apimid Rojanawatsirivej; Nithiwat Vatanavicharn; Somporn Liammongkolkul; Rungnapa lttiwut; Chupong lttiwut; Phichittra Od-ek; Chalurmpon Srichomthong; Adjima Assawapitaksakul; Wanna Chetruengchai; Ponghatai Boonsimma; Wuttichart Kamolvisit; Vorasuk Shotelersuk
作者单位Pediatric Neurology Department, Neurological Institute of Thailand, Department of Medical Services, Ministry of Public Health, Bangkok, Thailand; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand
Pediatric pseudotumor cerebri syndrome: Clinical characteristics, management and outcomes in a single-center cohort
作者Angelica De Luisa; Laura Caiazza; Martina Gnazzo; Giulia Paini; Giovanna Giacomelli; Silvia Scullin; Michela Prando; Emanuela Claudia Turco; Susanna Esposito; Benedetta Piccolo; Maria Carmela Pera
作者单位Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Italy,; Pediatric Clinic, University Hospital, Department of Medicine and Surgery, University of Parma, Italy,; Department of Medicine and Surgery, University of Parma, Parma, Italy,; Child neuropsychiatry Unit, Department of Medicine and Surgery, University of Parma, Italy,
Cytokine profiles in children with PCR-confirmed HHV-6 infection according to seizure occurrence
作者Jung Sook Yeom; Young-Soo Kim; Ji Sook Park; Eun Sil Park; Ji-Hyun Seo; Jae-Young Lim; Hyang-Ok Woo
作者单位Department Pediatrics, Gyeongsang National University Hospital, Gyeongsang National University, College of Medicine, Institute of Medical Science, Republic of Korea; Department Neurology, Gyeongsang National University Hospital, Gyeongsang National University, College of Medicine, Institute of Medical Science, Republic of Korea
National survey of patients with neuromuscular disease and COVID-19 in Japan
作者Takatoshi Sato; Keiko Ishigaki; Yuki Kihara; Kumiko Ishiguro; Minobu Shichiji; Satoru Nagata; Hiroya Hashimoto; Masatoshi Ishizaki; Hajime Arahata; Shugo Suwazono; Michio Kobayashi; Ruriko Kitao; Akiko Wakisaka; Michinori Funato; Katsuhisa Ogata; Hirofumi Komaki; Masanori P. Takahashi; Yasuhiro Takeshima; Tsuyoshi Matsumura
作者单位Department of Pediatrics, Tokyo Women's Medical University, School of Medicine, 8-1 Kawadacho, Shinjuku-ku, Tokyo 162-8666, Japan; Clinical Research Center, NHO Nagoya Medical Center, 4-1-1 Sannomaru, Naka-ku, Nagoya, Aichi 460-0001, Japan; Department of Neurology, NHO Kumamoto Saishun Medical Center, 2659 Suya, Koshi 861-1196, Japan; Department of Neurology, Neuro-Muscular Center, NHO Omuta National Hospital, 1044-1 Tachibana, Omuta City, Fukuoka 837-0911, Japan; Department of Neurology and Center for Clinical Neuroscience, NHO Okinawa National Hospital, 3-20-14 Ganeko, Ginowan City, Okinawa 901-2214, Japan; Department of Neurology, NHO Akita National Hospital, 84-40 Idonosawa, Uchimichikawa, Iwaki, Yurihonjo City, Akita 018-1393, Japan; Department of Neurology, NHO Hakone National Hospital, Odawara City, Kanagawa 250-0032, Japan; Department of Pediatrics, NHO Iou National Hospital, 94-2 73-1 Iwauchicho, Iwademachi, Kanazawa City, Ishikawa 920-0192, Japan; Department of Pediatric Neurology, NHO Nagara Medical Center, 1300-7 Nagara, Gifu City, Gifu 502-8558, Japan; Department of Neurology/Institute of Clinical Research, NHO Higashisaitama Hospital, 4147 Kurohama, Hasuda City, Saitama 349-0196, Japan; Department of Child Neurology, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8551, Japan; Translational Medical Center, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8551, Japan; Department of Neurology, The University of Osaka Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan; Department of Pediatrics, School of Medicine, Hyogo Medical University, 1-1, Mukogawa, Nishinomiya, Hyogo 663-8501, Japan; Department of Neurology, NHO Osaka Toneyama Medical Center, 5-1-1 Toneyama, Toyonaka, Osaka 560-8552, Japan
Comparison of oral prednisolone and ACTH therapies in infantile epileptic spasms syndrome: using BASED and E-Chess scores
作者İrem Şahan Şeref; Zeynep Öztürk; Cansu Özbaş; Esra Serdaroğlu; Ebru Arhan; Tuğba Hirfanoğlu; Ercan Demir
作者单位Gazi University Faculty of Medicine, Department of Pediatric Neurology, Ankara, Türkiye; Gazi University Faculty of Medicine, Department of Public Health, Ankara, Türkiye
Novel splice site variants in GBA1 are associated with Gaucher disease and genotype–phenotype correlations
作者Yang-Mei Ou; Ming-Feng He; Fu-Jiang Yan; Tian-Xiang Teng; Zhi-Cong Fan; Qing Zhou; Hua Li; Xiang-Shu Hu; Kai Peng; Chun-Xia Huang; Yu-Sheng Zhang
作者单位Department of Neurology and Stroke Center, The First Affiliated Hospital of Jinan University, No. 613 Huangpu Avenue West, Guangzhou, Guangdong Province, 510632, China.; Department of Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, China; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China; Epilepsy Center, Guangdong Sanjiu Brain Hospital, Guangzhou, Guangdong, China; Department of Clinical Laboratory, Guangdong Sanjiu Brain Hospital, Guangzhou, China; Department of Neurology, The Sixth Affiliated Hospital of Jinan University, Dongguan Eastern Central Hospital, No. 88 Changdong Road, Changping Town, Dongguan City, Guangdong Province, 523576, China
Expert consensus-based clinical roadmap for non-invasive brain stimulation in children and adolescents with cerebral palsy
作者Juliana Barbosa Goulardins; Juliana Bilhar Marques; Bibiana da Silveira Santos Machado; Simone Consuelo de Amorim; Anna Fontes Baptista; Elisabete Carrara-Angelis; Livia Shirahige; Kátia Monte-Silva
作者单位Escola Bahiana de Medicina e Saúde Pública, Salvador, BA, Brazil; Neurologic Rehabilitation Clinic, São Paulo, SP, Brazil; Universidade Luterana do, Brazil, Canoas, RS; Ambulatório de Bloqueio Neuromuscular com Toxina Botulínica em crianças com sequelas neurológicas, do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil; Centro Universitário Augusto Motta; Rio de Janeiro, RJ, Brazil; A.C.Camargo Cancer Center, Sao Paulo, SP, Brazil; Instituto de Neurociência Aplicada; Recife, PE, Brazil; Universidade Federal de Pernambuco; Recife, PE, Brazil; Núcleo de Assistência e Pesquisa em Neuromodulação (NAPeN Network), Brazil
End-diastolic velocity as a simplified bedside predictor of estimated cerebral perfusion pressure in neonates: A multicentre prospective observational study
作者Masashi Zuiki; Mikito Ohta; Mariko Ishimaru; Akihiro Managi; Norihiro Iwata; Naoe Fujita; Kazunori Watanabe; Daisuke Uda; Madoka Konishi; Akio Yamano; Eisuke Ichise; Kanae Hashiguchi; Daisuke Kinoshita; Tatsuji Hasegawa; Tomoko Iehara
作者单位Department of Paediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan; Department of Neonatology, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, Japan; Department of Paediatrics, National Hospital Organization Maizuru Medical Center, Maizuru, Japan
Elevated delta power in a maternal UBE3A-deletion pig model of Angelman syndrome
作者Luke S. Myers; Tanner G. Monk; Luis A. Martinez; Alasdair J. Taylor; Sarah G. Christian; Anne E. Anderson; Scott V. Dindot
作者单位Department of Veterinary Pathobiology, College of Veterinary Medicine & Biomedical Sciences, Texas A&M University, College Station, TX 77845, USA; Department of Pediatrics and Neurology, Baylor College of Medicine, Houston, TX 77030, USA; Ultragenyx Pharmaceutical Inc., Novato, CA 94949, USA
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