Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia

Epilepsia

Volumn 57, Issue 6, 2016, Pages 994-1003

  Weckhuysen, Sarah ^a,b,c,d   Marsan, Elise ^a,b,c   Lambrecq, Virginie ^a,b,c,d   Marchal, Cécile ^e   Morin Brureau, Mélanie ^a,b,c   An Gourfinkel, Isabelle ^a,d   Baulac, Michel ^a,b,c,d   Fohlen, Martine ^f   Kallay Zetchi, Christine ^g   Seeck, Margitta ^g   De La Grange, Pierre ^a   Dermaut, Bart ^h,i   Meurs, Alfred ^h   Thomas, Pierre ^j   Chassoux, Francine ^k   Leguern, Eric ^a,b,c,d   Picard, Fabienne ^g   Baulac, Stéphanie ^a,b,c,d  

^a INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^b CNRS   (France)

^c SORBONNE UNIVERSITÉ   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e BORDEAUX UNIVERSITY HOSPITAL   (France)

^f FONDATION OPHTALMOLOGIQUE ADOLPHE DE ROTHSCHILD   (France)

^g UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^h GHENT UNIVERSITY HOSPITAL   (Belgium)

ⁱ UNIV LILLE   (France)

^j PASTEUR HOSPITAL   (France)

^k CENTRE HOSPITALIER SAINTE ANNE   (France)

more..

Author keywords

DEPDC5; Genetics; mTOR; NPRL2; NPRL3; SUDEP

Indexed keywords

COMPLEMENTARY DNA; DEPDC5 PROTEIN; MAMMALIAN TARGET OF RAPAMYCIN COMPLEX 1; MESSENGER RNA; MIOS PROTEIN; NPRL2 PROTEIN; NPRL3 PROTEIN; PROTEIN; SEC13 PROTEIN; SEH1L PROTEIN; UNCLASSIFIED DRUG; WDR24 PROTEIN; WDR59 PROTEIN; DEPDC5 PROTEIN, HUMAN; GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; NPRL2 PROTEIN, HUMAN; NPRL3 PROTEIN, HUMAN; REPRESSOR PROTEIN; TARGET OF RAPAMYCIN KINASE; TUMOR SUPPRESSOR PROTEIN;

ADOLESCENT; ARTICLE; CHILD; CODON; COHORT ANALYSIS; CONTROLLED STUDY; CONVULSION; CORTICAL DYSPLASIA; ELECTROENCEPHALOGRAPHY; FEBRILE CONVULSION; FOCAL EPILEPSY; FRONTAL LOBE EPILEPSY; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENERALIZED EPILEPSY; HAPLOINSUFFICIENCY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; INFANT; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENICITY; PENETRANCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; RNA SEQUENCE; SEIZURE; TEMPORAL LOBE EPILEPSY; TONIC CLONIC SEIZURE; ADULT; AGED; DIAGNOSTIC IMAGING; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION; GENETICS; MALE; MIDDLE AGED; MUTATION; NEWBORN; POSITRON EMISSION TOMOGRAPHY; VERY ELDERLY; YOUNG ADULT;

ADULT; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EPILEPSIES, PARTIAL; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GTPASE-ACTIVATING PROTEINS; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; MIDDLE AGED; MUTATION; POSITRON-EMISSION TOMOGRAPHY; REPRESSOR PROTEINS; TOR SERINE-THREONINE KINASES; TUMOR SUPPRESSOR PROTEINS; YOUNG ADULT;

EID: 84969961778     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.13391     Document Type: Article

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