Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3

Annals of Neurology

Volumn 79, Issue 1, 2016, Pages 132-137

  Sim, Joe C ^a   Scerri, Thomas ^b,c   Fanjul Fernández, Miriam ^a   Riseley, Jessica R ^a   Gillies, Greta ^a   Pope, Kate ^a   Van Roozendaal, Hanna ^d   Heng, Julian I ^e   Mandelstam, Simone A ^c,f   McGillivray, George ^a   Macgregor, Duncan ^g   Kannan, Lakshminarayanan ^g   Maixner, Wirginia ^a,g   Harvey, A Simon ^a,c,g   Amor, David J ^a,c   Delatycki, Martin B ^a,c,h   Crino, Peter B ⁱ   Bahlo, Melanie ^b,c   Lockhart, Paul J ^a,c   Leventer, Richard J ^a,c,g  

^a MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^b WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

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

^g ROYAL CHILDREN'S HOSPITAL   (Australia)

^h AUSTIN HEALTH   (Australia)

ⁱ TEMPLE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; MTOR PROTEIN, HUMAN; NPRL3 PROTEIN, HUMAN; TARGET OF RAPAMYCIN KINASE;

CASE REPORT; CHILD; EPILEPSY; FEMALE; FOCAL EPILEPSY; GENETICS; HUMAN; MALE; MALFORMATION OF CORTICAL DEVELOPMENT GROUP I; MUTATION; PEDIGREE; PRESCHOOL CHILD; SIGNAL TRANSDUCTION;

CHILD; CHILD, PRESCHOOL; EPILEPSIES, PARTIAL; EPILEPSY; FEMALE; GTPASE-ACTIVATING PROTEINS; HUMANS; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP I; MUTATION; PEDIGREE; SIGNAL TRANSDUCTION; TOR SERINE-THREONINE KINASES;

EID: 84956578812     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24502     Document Type: Article

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