De novo NSF mutations cause early infantile epileptic encephalopathy.

Suzuki, Hisato; Yoshida, Takeshi; Morisada, Naoya; Uehara, Tomoko; Kosaki, Kenjiro; Sato, Katsunori; Matsubara, Kohei; Takano-Shimizu, Toshiyuki; Takenouchi, Toshiki

Suzuki, Hisato; Yoshida, Takeshi; Morisada, Naoya; Uehara, Tomoko; Kosaki, Kenjiro; Sato, Katsunori; Matsubara, Kohei; Takano-Shimizu, Toshiyuki; Takenouchi, Toshiki.

Afiliación

Suzuki H; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Yoshida T; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Morisada N; Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital, Hyogo, Japan.
Uehara T; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Sato K; Applied Biology and Advanced Insect Research Promotion Center, Kyoto Institute of Technology, Kyoto, Japan.
Matsubara K; Applied Biology and Advanced Insect Research Promotion Center, Kyoto Institute of Technology, Kyoto, Japan.
Takano-Shimizu T; Applied Biology and Advanced Insect Research Promotion Center, Kyoto Institute of Technology, Kyoto, Japan.
Takenouchi T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

Ann Clin Transl Neurol ; 6(11): 2334-2339, 2019 11.

Article en En | MEDLINE | ID: mdl-31675180

Asunto(s)

Proteínas Sensibles a N-Etilmaleimida/genética; Espasmos Infantiles/genética; Animales; Drosophila; Femenino; Humanos; Mutación

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Espasmos Infantiles / Proteínas Sensibles a N-Etilmaleimida Límite: Animals / Female / Humans Idioma: En Revista: Ann Clin Transl Neurol Año: 2019 Tipo del documento: Article País de afiliación: Japón

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