Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

Neurology: Genetics

Volumn 2, Issue 6, 2016, Pages

  Møller, Rikke S ^a   Weckhuysen, Sarah ^c   Chipaux, Mathilde ^d   Marsan, Elise ^f   Taly, Valerie ^f,m   Martina Bebin, E ^e   Hiatt, Susan M ^c   Prokop, Jeremy W ^b,n   Bowling, Kevin M ^c   Mei, Davide ^d,o   Conti, Valerio ^d,e   De La Grange, Pierre ^g   Ferrand Sorbets, Sarah ^h   Dorfmüller, Georg ^i,p   Lambrecq, Virginie ^a   Larsen, Line H G ^a   Leguern, Eric ^j   Guerrini, Renzo ^m   Rubboli, Guido ^k   Cooper, Gregory M ^l   Baulac, Stéphanie ^c   more..

^a DANISH EPILEPSY CENTRE   (Denmark)

^b UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^c SORBONNE UNIVERSITÉ   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e Neurogenetics Group   (United Kingdom)

^f DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^g UNIVERSITY OF ANTWERP   (Belgium)

^h ANTWERP UNIVERSITY HOSPITAL   (Belgium)

ⁱ FONDATION OPHTALMOLOGIQUE ADOLPHE DE ROTHSCHILD   (France)

^j Therapeutic Implications Laboratoire d'Excellence GR Ex   (France)

^k UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^l HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY   (United States)

^m UNIVERSITY OF FLORENCE   (Italy)

ⁿ INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^o Amplexa Genetics A/S   (Denmark)

^p UNIVERSITY OF COPENHAGEN   (Denmark)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MAMMALIAN TARGET OF RAPAMYCIN; MAMMALIAN TARGET OF RAPAMYCIN COMPLEX 1;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CONTROLLED STUDY; CORTICAL DYSPLASIA; DANISH CITIZEN; DEPDC5 GENE; EPILEPSY; FEMALE; FOCAL EPILEPSY; FRENCHMAN; FRONTAL LOBE EPILEPSY; GATOR1 GENE; GENE; GENE ACTIVATION; GENE FREQUENCY; GENE SEQUENCE; GENERALIZED EPILEPSY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GERMLINE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INTELLECTUAL IMPAIRMENT; MACROCEPHALY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MTOR GENE; MTORC1 GENE; MUTATION RATE; MUTATIONAL ANALYSIS; NPRL2 GENE; NPRL3 GENE; PATHOGENESIS; PATHOGENICITY; PHENOTYPIC VARIATION; PRESCHOOL CHILD; SCHOOL CHILD; SIGNAL TRANSDUCTION; SOMATIC MUTATION; YOUNG ADULT;

EID: 85012104030     PISSN: None     EISSN: 23767839     Source Type: Journal    
DOI: 10.1212/NXG.0000000000000118     Document Type: Article

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