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De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies.
Kunii, Misako; Doi, Hiroshi; Hashiguchi, Shunta; Matsuishi, Toyojiro; Sakai, Yasunari; Iai, Mizue; Okubo, Masaki; Nakamura, Haruko; Takahashi, Keita; Katsumoto, Atsuko; Tada, Mikiko; Takeuchi, Hideyuki; Ishikawa, Taro; Miyake, Noriko; Saitsu, Hirotomo; Matsumoto, Naomichi; Tanaka, Fumiaki.
Affiliation
  • Kunii M; Department of Neurology and Stroke Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
  • Doi H; Department of Neurology and Stroke Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
  • Hashiguchi S; Department of Neurology and Stroke Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
  • Matsuishi T; Research Center for Children and Research Center for Rett Syndrome, St. Mary's Hospital, 422 Tsubukuhonmachi, Kurume, Fukuoka 830-0047, Japan.
  • Sakai Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.
  • Iai M; Division of Neurology, Clinical Research Institute, Kanagawa, Children's Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama 232-8555, Japan.
  • Okubo M; Department of Neurology and Stroke Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
  • Nakamura H; Department of Neurology and Stroke Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
  • Takahashi K; Department of Neurology and Stroke Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
  • Katsumoto A; Department of Neurology and Stroke Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
  • Tada M; Department of Neurology and Stroke Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
  • Takeuchi H; Department of Neurology and Stroke Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
  • Ishikawa T; Department of Pharmacology, The Jikei University School of Medicine, 3-25-8 Nishi-shinbashi, Minato-ku, Tokyo 105-8461, Japan.
  • Miyake N; Department of Human Genetics, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
  • Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu, Shizuoka 431-3192, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
  • Tanaka F; Department of Neurology and Stroke Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan. Electronic address: ftanaka@yokohama-cu.ac.jp.
J Neurol Sci ; 416: 117047, 2020 Sep 15.
Article in En | MEDLINE | ID: mdl-32736238
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spasms, Infantile / Cerebellar Ataxia / Calcium Channels, T-Type Limits: Humans / Newborn Language: En Journal: J Neurol Sci Year: 2020 Document type: Article Affiliation country: Japón Country of publication: Países Bajos
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spasms, Infantile / Cerebellar Ataxia / Calcium Channels, T-Type Limits: Humans / Newborn Language: En Journal: J Neurol Sci Year: 2020 Document type: Article Affiliation country: Japón Country of publication: Países Bajos