Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations

Annals of Neurology

Volumn 75, Issue 5, 2014, Pages 782-787

  Scheffer, Ingrid E ^a,b,c   Heron, Sarah E ^d   Regan, Brigid M ^a   Mandelstam, Simone ^b,c   Crompton, Douglas E ^e   Hodgson, Bree L ^d   Licchetta, Laura ^f   Provini, Federica ^f,g   Bisulli, Francesca ^f,g   Vadlamudi, Lata ^a,h   Gecz, Jozef ⁱ   Connelly, Alan ^b,c   Tinuper, Paolo ^f,g   Ricos, Michael G ^d   Berkovic, Samuel F ^a   Dibbens, Leanne M ^d  

^a AUSTIN HEALTH   (Australia)

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

^c UNIVERSITY OF MELBOURNE   (Australia)

^d UNIVERSITY OF SOUTH AUSTRALIA   (Australia)

^e Sansom Institute for Health Research University of South Australia ^*  (Australia)

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

^g UNIVERSITY OF BOLOGNA   (Italy)

^h UNIVERSITY OF QUEENSLAND   (Australia)

ⁱ UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE; DEPDC5 PROTEIN; MAMMALIAN TARGET OF RAPAMYCIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CELL GROWTH; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CORTICAL DYSPLASIA; DISEASE ASSOCIATION; EXOME; FEMALE; FOCAL EPILEPSY; FRONTAL LOBE EPILEPSY; GENE MUTATION; HUMAN; MALE; MUTATIONAL ANALYSIS; NEUROIMAGING; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; REGULATORY MECHANISM; SUBCORTICAL HETEROTOPIA; TUBEROUS SCLEROSIS;

ADULT; BRAIN; CHILD; EPILEPSIES, PARTIAL; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE; REPRESSOR PROTEINS; TOR SERINE-THREONINE KINASES; YOUNG ADULT;

EID: 84902281810     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24126     Document Type: Article

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