학술논문
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.
Document Type
Journal Article
Author
Nakashima, Mitsuko; Kato, Mitsuhiro; Aoto, Kazushi; Shiina, Masaaki; Belal, Hazrat; Mukaida, Souichi; Kumada, Satoko; Sato, Atsushi; Zerem, Ayelet; Lerman‐Sagie, Tally; Lev, Dorit; Leong, Huey Yin; Tsurusaki, Yoshinori; Mizuguchi, Takeshi; Miyatake, Satoko; Miyake, Noriko; Ogata, Kazuhiro; Saitsu, Hirotomo; Matsumoto, Naomichi; Lerman-Sagie, Tally
Source
Subject
*ACTIN
*NEUROLOGICAL disorders
*EXOMES
*GENE transfection
*IMMUNOFLUORESCENCE
*PROTEIN metabolism
*BRAIN
*PROTEINS
*RESEARCH
*GENETIC mutation
*INFANTILE spasms
*ELECTROENCEPHALOGRAPHY
*ANIMAL experimentation
*MATHEMATICAL models
*RESEARCH methodology
*ARGININE
*MAGNETIC resonance imaging
*EVALUATION research
*MEDICAL cooperation
*COMPARATIVE studies
*GENES
*CELLS
*THEORY
*GENETIC techniques
*EPITHELIAL cells
*CARRIER proteins
*GENEALOGY
*MICE
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Language
ISSN
0364-5134
Abstract