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Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A.
Okubo, Yukimune; Shibuya, Moriei; Nakamura, Haruhiko; Kawashima, Aritomo; Kodama, Kaori; Endo, Wakaba; Inui, Takehiko; Togashi, Noriko; Aihara, Yu; Shirota, Matsuyuki; Funayama, Ryo; Niihori, Tetsuya; Fujita, Atsushi; Nakayama, Keiko; Aoki, Yoko; Matsumoto, Naomichi; Kure, Shigeo; Kikuchi, Atsuo; Haginoya, Kazuhiro.
Affiliation
  • Okubo Y; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai 989-3126, Japan. Electronic address: yokubom@yahoo.co.jp.
  • Shibuya M; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai 989-3126, Japan.
  • Nakamura H; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai 989-3126, Japan.
  • Kawashima A; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai 989-3126, Japan.
  • Kodama K; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai 989-3126, Japan.
  • Endo W; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai 989-3126, Japan.
  • Inui T; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai 989-3126, Japan.
  • Togashi N; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai 989-3126, Japan.
  • Aihara Y; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
  • Shirota M; Division of Interdisciplinary Medical Science, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Funayama R; Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Niihori T; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine.
  • Nakayama K; Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Aoki Y; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine.
  • Kure S; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai 989-3126, Japan; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
  • Kikuchi A; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
  • Haginoya K; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai 989-3126, Japan. Electronic address: khaginoya@kha.biglobe.ne.jp.
Brain Dev ; 45(9): 505-511, 2023 Oct.
Article in En | MEDLINE | ID: mdl-37442734
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis / Epilepsies, Myoclonic / Epileptic Syndromes / Movement Disorders Type of study: Guideline Limits: Female / Humans Language: En Journal: Brain Dev Year: 2023 Document type: Article
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis / Epilepsies, Myoclonic / Epileptic Syndromes / Movement Disorders Type of study: Guideline Limits: Female / Humans Language: En Journal: Brain Dev Year: 2023 Document type: Article