Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy

Nature Medicine

Volumn 21, Issue 4, 2015, Pages 395-400

  Lim, Jae Seok ^a   Kim, Woo Il ^a   Kang, Hoon Chul ^b,c   Kim, Se Hoon ^c   Park, Ah Hyung ^a   Park, Eun Kyung ^c,d   Cho, Young Wook ^e   Kim, Sangwoo ^c   Kim, Ho Min ^a   Kim, Jeong A ^b,c   Kim, Junho ^c   Rhee, Hwanseok ^f   Kang, Seok Gu ^c,d   Kim, Heung Dong ^b,c   Kim, Daesoo ^a   Kim, Dong Seok ^c,d,f   Lee, Jeong Ho ^a  

^a Korea Advanced Institute of Science and Technology (KAIST)   (South Korea)

^b Pediatric Epilepsy Clinics   (South Korea)

^c Yonsei University College of Medicine   (South Korea)

^d Yonsei University   (South Korea)

^e Korea Basic Science Institute (KBSI)   (South Korea)

^f Macrogen Inc   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MTOR PROTEIN, HUMAN; RAPAMYCIN; TARGET OF RAPAMYCIN KINASE;

ALGORITHM; AMINO ACID SEQUENCE; ANIMAL; BRAIN; CHEMISTRY; CHILD; ELECTROPORATION; EXOME; EXON; FEMALE; GENETICS; HEK293 CELL LINE; HUMAN; INFANT; MALE; MALFORMATION OF CORTICAL DEVELOPMENT GROUP I; METABOLISM; MOLECULAR GENETICS; MOUSE; MUTAGENESIS; MUTATION; NERVE CELL; PHOSPHORYLATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SEQUENCE HOMOLOGY;

ALGORITHMS; AMINO ACID SEQUENCE; ANIMALS; BRAIN; CHILD; CHILD, PRESCHOOL; DNA; ELECTROPORATION; EXOME; EXONS; FEMALE; HEK293 CELLS; HUMANS; INFANT; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP I; MICE; MOLECULAR SEQUENCE DATA; MUTAGENESIS; MUTATION; NEURONS; PHOSPHORYLATION; POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY, AMINO ACID; SIROLIMUS; TOR SERINE-THREONINE KINASES;

EID: 84931090578     PISSN: 10788956     EISSN: 1546170X     Source Type: Journal    
DOI: 10.1038/nm.3824     Document Type: Article

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