Publications:

Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy.

Human Molecular Genetics

Hayashi, Takahiro T; Yano, Naoko N; Kora, Kengo K; Yokoyama, Atsushi A; Maizuru, Kanako K; Kayaki, Taisei T; Nishikawa, Kinuko K; Osawa, Mitsujiro M; Niwa, Akira A; Takenouchi, Toshiki T; Hijikata, Atsushi A; Shirai, Tsuyoshi T; Suzuki, Hisato H; Kosaki, Kenjiro K; Saito, Megumu K MK; Takita, Junko J; Yoshida, Takeshi T

Publication Date: 2023-01-16

Variant appearance in text: NSF: A459T

PubMed Link: 36645181

Variant Present in the following documents:

• Main text
• ddad008.pdf

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De novo NSF mutations cause early infantile epileptic encephalopathy.

Annals Of Clinical And Translational Neurology

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

Publication Date: 2019-11

Variant appearance in text: NSF: 1375G>A; A459T

PubMed Link: 31675180

Variant Present in the following documents:

• Main text
• ACN3-6-2334.pdf

View BVdb publication page