Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb

Annals of Neurology

Volumn 78, Issue 3, 2015, Pages 375-386

  Nakashima, Mitsuko ^a   Saitsu, Hirotomo ^a   Takei, Nobuyuki ^b   Tohyama, Jun ^c   Kato, Mitsuhiro ^d   Kitaura, Hiroki ^b   Shiina, Masaaki ^a   Shirozu, Hiroshi ^c   Masuda, Hiroshi ^c   Watanabe, Keisuke ^e   Ohba, Chihiro ^a   Tsurusaki, Yoshinori ^a   Miyake, Noriko ^a   Zheng, Yingjun ^b   Sato, Tatsuhiro ^f   Takebayashi, Hirohide ^e   Ogata, Kazuhiro ^a   Kameyama, Shigeki ^c   Kakita, Akiyoshi ^b   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b NIIGATA UNIVERSITY   (Japan)

^c NISHI NIIGATA CHUO NATIONAL HOSPITAL   (Japan)

^d SHOWA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e NIIGATA UNIVERSITY GRADUATE SCHOOL OF MEDICAL AND DENTAL SCIENCES   (Japan)

^f KITASATO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MAMMALIAN TARGET OF RAPAMYCIN; PROTEIN S6; MTOR PROTEIN, HUMAN; TARGET OF RAPAMYCIN KINASE;

AMPLICON; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORTICAL DYSPLASIA; CRYSTAL STRUCTURE; FOCAL CORTICAL DYSPLASIA TYPE IIB; GENE FREQUENCY; GENETIC PROCEDURES; GENETIC TRANSFECTION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IN VITRO GENE TRANSFER; MOSAICISM; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SIGNAL TRANSDUCTION; SOMATIC MUTATION; WESTERN BLOTTING; WHOLE EXOME SEQUENCING; ADOLESCENT; ADULT; BRAIN; CHILD; FEMALE; GENETICS; HEK293 CELL LINE; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP II; MUTATION; PATHOLOGY;

ADOLESCENT; ADULT; BRAIN; CHILD; FEMALE; HEK293 CELLS; HUMANS; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP II; MUTATION; TOR SERINE-THREONINE KINASES;

EID: 84939653040     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24444     Document Type: Article

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