A Novel GABRG2 mutation, p.R1367*, in a family with GEFS+ and extended phenotypes

Neurobiology of Disease

Volumn 64, Issue , 2014, Pages 131-141

  Johnston, Ann J ^a,b   Kang, Jing Qiong ^c   Shen, Wangzhen ^c   Pickrell, William O ^a,b   Cushion, Thomas D ^a   Davies, Jeffrey S ^a   Baer, Kristin ^a   Mullins, Jonathan G L ^a   Hammond, Carrie L ^a   Chung, Seo Kyung ^a   Thomas, Rhys H ^a,b   White, Cathy ^a,d   Smith, Phil E M ^b   Macdonald, Robert L ^c   Rees, Mark I ^a  

^a SWANSEA UNIVERSITY   (United Kingdom)

^b UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^c VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^d SINGLETON HOSPITAL   (United Kingdom)

Author keywords

Epilepsy; GABAA receptors; Protein truncating mutations; Receptor trafficking

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR GAMMA2;

ADULT; ARTICLE; CELL STRAIN HEK293; CELLULAR DISTRIBUTION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GABRG2 GENE; GENE EXPRESSION; GENE MUTATION; GENERALIZED EPILEPSY; GENETIC ASSOCIATION; GENETIC GENERALIZED EPILEPSY; GENETIC VARIABILITY; HUMAN; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; SEQUENCE ANALYSIS;

EPILEPSY; GABAA RECEPTORS; PROTEIN TRUNCATING MUTATIONS; RECEPTOR TRAFFICKING;

ADULT; ANIMALS; CELLS, CULTURED; CERCOPITHECUS AETHIOPS; CEREBRAL CORTEX; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; COS CELLS; EPILEPSY, GENERALIZED; FAMILY; FEMALE; HEK293 CELLS; HUMANS; INFANT; MALE; NEURONS; PC12 CELLS; PHENOTYPE; POINT MUTATION; RATS; RECEPTORS, GABA-A; SEIZURES, FEBRILE;

EID: 84893137336     PISSN: 09699961     EISSN: 1095953X     Source Type: Journal    
DOI: 10.1016/j.nbd.2013.12.013     Document Type: Article

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