Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy

Human Mutation

Volumn 36, Issue 2, 2015, Pages 200-209

  van Kranenburg, Melissa ^a   Hoogeveen Westerveld, Marianne ^a   Nellist, Mark ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

DEPDC5; Focal epilepsy; Functional studies; TORC1 signaling

Indexed keywords

GATOR 1 PROTEIN; GUANOSINE TRIPHOSPHATASE; MAMMALIAN TARGET OF RAPAMYCIN COMPLEX 1; RAG GUANOSINE TRIPHOSPHATASE; UNCLASSIFIED DRUG; DEPDC5 PROTEIN, HUMAN; GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; HOMEODOMAIN PROTEIN; MECHANISTIC TARGET OF RAPAMYCIN COMPLEX 1; MULTIPROTEIN COMPLEX; NPRL2 PROTEIN, HUMAN; NPRL3 PROTEIN, HUMAN; RAG-1 PROTEIN; REPRESSOR PROTEIN; TARGET OF RAPAMYCIN KINASE; TUMOR SUPPRESSOR PROTEIN;

ARTICLE; CLASSIFICATION; COMPLEX FORMATION; CONTROLLED STUDY; FEMALE; FOCAL EPILEPSY; FUNCTIONAL ASSESSMENT; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; OVARY TUMOR; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN INTERACTION; SIGNAL TRANSDUCTION; TRANSIENT EXPRESSION; GENETICS; HEK293 CELL LINE; IMMUNOPRECIPITATION; METABOLISM; PROTEIN ANALYSIS;

EUKARYOTA;

EPILEPSIES, PARTIAL; GENETIC ASSOCIATION STUDIES; GTPASE-ACTIVATING PROTEINS; HEK293 CELLS; HOMEODOMAIN PROTEINS; HUMANS; IMMUNOPRECIPITATION; MULTIPROTEIN COMPLEXES; PROTEIN INTERACTION MAPPING; REPRESSOR PROTEINS; SIGNAL TRANSDUCTION; TOR SERINE-THREONINE KINASES; TUMOR SUPPRESSOR PROTEINS;

EID: 84922018584     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22723     Document Type: Article

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