The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration

Nature Neuroscience

Volumn 18, Issue 7, 2015, Pages 988-996

  Kang, Jing Qiong ^a   Shen, Wangzhen ^a   Zhou, Chengwen ^a   Xu, Dong ^b   Macdonald, Robert L ^a,c  

^a VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^b Department of Electrical Engineering and Computer Science   (United States)

^c VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR GAMMA2; CASPASE 3; ION CHANNEL; 4 AMINOBUTYRIC ACID A RECEPTOR; GABRG2 PROTEIN, HUMAN; GABRG2 PROTEIN, MOUSE;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRAIN DISEASE; CONTROLLED STUDY; COS 7 CELL LINE; DEGENERATIVE DISEASE; ENZYME ACTIVATION; EPILEPSY; GABRG2 GENE; GENE; GENE MUTATION; GENE SILENCING; HEK293 CELL LINE; HUMAN; IMMUNOHISTOCHEMISTRY; MOLECULAR PATHOLOGY; MOUSE; NERVE DEGENERATION; NEUROTRANSMISSION; NONHUMAN; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN METABOLISM; PROTEIN SUBUNIT; RAT; SEIZURE; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SIGNAL TRANSDUCTION; ADULT; ANIMAL; C57BL MOUSE; DISEASE MODEL; FEMALE; GENETICS; METABOLISM; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; TRANSGENIC MOUSE; YOUNG ADULT;

ADULT; ANIMALS; DISEASE MODELS, ANIMAL; EPILEPSY; FEMALE; HUMANS; MICE; MICE, INBRED C57BL; MICE, TRANSGENIC; MUTATION; NEURODEGENERATIVE DISEASES; RECEPTORS, GABA-A; YOUNG ADULT;

EID: 84933279150     PISSN: 10976256     EISSN: 15461726     Source Type: Journal    
DOI: 10.1038/nn.4024     Document Type: Article

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