Impaired surface αβγ GABAA receptor expression in familial epilepsy due to a GABRG2 frameshift mutation

Neurobiology of Disease

Volumn 50, Issue 1, 2013, Pages 135-141

  Tian, Mengnan ^a,b   Mei, Davide ^c   Freri, Elena ^d   Hernandez, Ciria C ^a   Granata, Tiziana ^d   Shen, Wangzhen ^a   Macdonald, Robert L ^a,b   Guerrini, Renzo ^c,e  

^a VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^b VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF FLORENCE   (Italy)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

^e DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

Author keywords

Epilepsy; GABAA receptor; GABRG2; GABRG2(S443delC); GEFS+

Indexed keywords

4 AMINOBUTYRIC ACID; 4 AMINOBUTYRIC ACID A RECEPTOR ALPHA1; 4 AMINOBUTYRIC ACID A RECEPTOR BETA2; 4 AMINOBUTYRIC ACID A RECEPTOR GAMMA2; COMPLEMENTARY DNA; PHENOBARBITAL; VALPROIC ACID;

3' UNTRANSLATED REGION; ADULT; AGED; ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL MEMBRANE; CELL STRAIN HEK293; CHILD; CLINICAL ARTICLE; CORRELATION ANALYSIS; DISEASE SEVERITY; ENDOPLASMIC RETICULUM; FAMILY STUDY; FEBRILE CONVULSION; FEMALE; FLOW CYTOMETRY; FRAMESHIFT MUTATION; GABRG2 GENE; GENE; GENE DELETION; GENE MUTATION; GENERALIZED EPILEPSY; GENETIC TRANSFECTION; HAPLOINSUFFICIENCY; HUMAN; HUMAN CELL; IMMUNOBLOTTING; LOSS OF FUNCTION MUTATION; MALE; NERVOUS SYSTEM ELECTROPHYSIOLOGY; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; STOP CODON; TONIC CLONIC SEIZURE; WILD TYPE;

ADULT; AGED; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; ELECTROENCEPHALOGRAPHY; EPILEPSIES, MYOCLONIC; FEMALE; FLOW CYTOMETRY; FRAMESHIFT MUTATION; GENOTYPE; HUMANS; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; MALE; MICROSCOPY, CONFOCAL; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PATCH-CLAMP TECHNIQUES; PEDIGREE; PHENOTYPE; RECEPTORS, GABA-A;

EID: 84868506211     PISSN: 09699961     EISSN: 1095953X     Source Type: Journal    
DOI: 10.1016/j.nbd.2012.10.008     Document Type: Article

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