Rapamycin prevents seizures after depletion of STRADA in a rare neurodevelopmental disorder

Science Translational Medicine

Volumn 5, Issue 182, 2013, Pages

  Parker, Whitney E ^a   Orlova, Ksenia A ^a   Parker, William H ^a   Birnbaum, Jacqueline F ^a   Krymskaya, Vera P ^b   Goncharov, Dmitry A ^b   Baybis, Marianna ^a   Helfferich, Jelte ^a,c   Okochi, Kei ^a   Strauss, Kevin A ^d,e,f   Crino, Peter B ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d CLINIC FOR SPECIAL CHILDREN   (United States)

^e FRANKLIN AND MARSHALL COLLEGE   (United States)

^f LANCASTER GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTARABINE; MAMMALIAN TARGET OF RAPAMYCIN COMPLEX 1; MAMMALIAN TARGET OF RAPAMYCIN INHIBITOR; PF 4708671; PHOSPHOTRANSFERASE; PROTEIN SERINE THREONINE KINASE INHIBITOR; PSEUDOKINASE STRADA; RAPAMYCIN; S6 KINASE; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; BRAIN CORTEX; CELL MIGRATION; CHILD; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; EPILEPSY; EXON; FACE DYSMORPHIA; FIBROBLAST; GENE; GENE DELETION; HETEROTOPIA; HISTOPATHOLOGY; HUMAN; HUMAN CELL; IN VITRO STUDY; INFANT; LYK5 GENE; NEURAL STEM CELL; NEUROLOGIC DISEASE; NONHUMAN; ONSET AGE; POLYHYDRAMNIOS MEGALENCEPHALY AND SYMPTOMATIC EPILEPSY SYNDROME; PRESCHOOL CHILD; PRETZEL SYNDROME; PRIORITY JOURNAL; PROTEIN DEPLETION; RARE DISEASE; SEIZURE; SIGNAL TRANSDUCTION; STRADA GENE; SUBCORTEX; SUBVENTRICULAR ZONE; WHITE MATTER;

ANIMALS; BLOTTING, WESTERN; CELL MOVEMENT; CELLS, CULTURED; CENTRAL NERVOUS SYSTEM DISEASES; CYTARABINE; FEMALE; HUMANS; IMIDAZOLES; IMMUNOHISTOCHEMISTRY; MICE; MULTIPROTEIN COMPLEXES; PIPERAZINES; PREGNANCY; SEIZURES; SIROLIMUS; TOR SERINE-THREONINE KINASES;

EID: 84877766754     PISSN: 19466234     EISSN: 19466242     Source Type: Journal    
DOI: 10.1126/scitranslmed.3005271     Document Type: Article

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