Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy

Annals of Neurology

Volumn 79, Issue 1, 2016, Pages 120-131

  Ricos, Michael G ^a   Hodgson, Bree L ^a   Pippucci, Tommaso ^b,c   Saidin, Akzam ^d   Ong, Yeh Sze ^a   Heron, Sarah E ^a   Licchetta, Laura ^e,f   Bisulli, Francesca ^e,f   Bayly, Marta A ^a   Hughes, James ^g   Baldassari, Sara ^b,c   Palombo, Flavia ^b,c   Santucci, Margherita ^e,f   Meletti, Stefano ^h   Berkovic, Samuel F ⁱ   Rubboli, Guido ^e,j   Thomas, Paul Q ^g   Scheffer, Ingrid E ^i,k   Tinuper, Paolo ^e,f   Geoghegan, Joel ^l   Schreiber, Andreas W ^g,l   Dibbens, Leanne M ^a   more..

^a UNIVERSITY OF SOUTH AUSTRALIA   (Australia)

^b UNIVERSITY OF BOLOGNA   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d Lot 49A Sungei Buloh Industrial Estate   (Malaysia)

^e IRCCS ISTITUTO DELLE SCIENZE NEUROLOGICHE DI BOLOGNA   (Italy)

^f UNIVERSITY OF BOLOGNA   (Italy)

^g UNIVERSITY OF ADELAIDE   (Australia)

^h UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

ⁱ UNIVERSITY OF MELBOURNE   (Australia)

^j UNIVERSITY OF COPENHAGEN   (Denmark)

^k FLOREY INSTITUTE OF NEUROSCIENCE AND MENTAL HEALTH   (Australia)

^l CENTRE FOR CANCER BIOLOGY   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DEPDC5 PROTEIN, HUMAN; GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; MECHANISTIC TARGET OF RAPAMYCIN COMPLEX 1; MULTIPROTEIN COMPLEX; NPRL2 PROTEIN, HUMAN; NPRL3 PROTEIN, HUMAN; REPRESSOR PROTEIN; TARGET OF RAPAMYCIN KINASE; TUMOR SUPPRESSOR PROTEIN;

DNA SEQUENCE; EXOME; FOCAL EPILEPSY; GENE EXPRESSION PROFILING; GENETICS; HUMAN; METABOLISM; MUTATION; PEDIGREE; SIGNAL TRANSDUCTION;

EPILEPSIES, PARTIAL; EXOME; GENE EXPRESSION PROFILING; GTPASE-ACTIVATING PROTEINS; HUMANS; MULTIPROTEIN COMPLEXES; MUTATION; PEDIGREE; REPRESSOR PROTEINS; SEQUENCE ANALYSIS, DNA; SIGNAL TRANSDUCTION; TOR SERINE-THREONINE KINASES; TUMOR SUPPRESSOR PROTEINS;

EID: 84956574326     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24547     Document Type: Article

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