Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy

Epilepsy Research

Volumn 108, Issue 3, 2014, Pages 420-432

  Ishii, Atsushi ^a   Kanaumi, Takeshi ^a   Sohda, Miwa ^b   Misumi, Yoshio ^a   Zhang, Bo ^a   Kakinuma, Naoto ^c   Haga, Yoshiko ^d   Watanabe, Kazuyoshi ^e   Takeda, Sen ^c   Okada, Motohiro ^f   Ueno, Shinya ^g   Kaneko, Sunao ^h,j   Takashima, Sachio ⁱ   Hirose, Shinichi ^a  

^a FUKUOKA UNIVERSITY   (Japan)

^b NIIGATA UNIVERSITY GRADUATE SCHOOL OF MEDICAL AND DENTAL SCIENCES   (Japan)

^c UNIVERSITY OF YAMANASHI   (Japan)

^d NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^e AICHI SHUKUTOKU UNIVERSITY   (Japan)

^f MIE UNIVERSITY   (Japan)

^g Institute of Brain Science   (Japan)

^h HIROSAKI UNIVERSITY   (Japan)

ⁱ INTERNATIONAL UNIVERSITY OF HEALTH AND WELFARE   (Japan)

^j Seisyokai Minato Hospital   (Japan)

more..

Author keywords

Channelopathy; ER stress; Sorting; Trafficking; Unfolded protein response

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; 4 AMINOBUTYRIC ACID A RECEPTOR ALPHA1; 4 AMINOBUTYRIC ACID A RECEPTOR BETA2; 4 AMINOBUTYRIC ACID A RECEPTOR GAMMA2; DNA; SODIUM CHANNEL NAV1.1; SODIUM CHANNEL NAV1.2; VOLTAGE GATED SODIUM CHANNEL BETA 1 SUBUNIT; VOLTAGE GATED SODIUM CHANNEL BETA 2 SUBUNIT;

ARTICLE; BRAIN ELECTROPHYSIOLOGY; CASE REPORT; CELL MEMBRANE; CELL MIGRATION; CHILD; CONTROLLED STUDY; DIZYGOTIC TWINS; ENDOPLASMIC RETICULUM; EPILEPSY; FEMALE; GABRA1 GENE; GABRB2 GENE; GABRG2 GENE; GENE; GENETIC ASSOCIATION; GENETIC EPILEPSY WITH FEBRILE SEIZURE PLUS; GENETIC PARAMETERS; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; NERVE FIBER TRANSPORT; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREMATURE TERMINATION CODON; PRIORITY JOURNAL; SCN1A GENE; SCN1B GENE; SCN2A GENE; SCN2B GENE; SEVERE MYOCLONIC EPILEPSY IN INFANCY;

CHANNELOPATHY; ER STRESS; SORTING; TRAFFICKING; UNFOLDED PROTEIN RESPONSE;

ANIMALS; BRAIN; CELLS, CULTURED; CHILD, PRESCHOOL; CODON, NONSENSE; EPILEPSIES, MYOCLONIC; EPILEPSY; FEMALE; GENE EXPRESSION REGULATION; HEK293 CELLS; HIPPOCAMPUS; HUMANS; INFANT; JAPAN; MALE; MEMBRANE POTENTIALS; MICE; MODELS, MOLECULAR; NEURONS; PROTEIN SUBUNITS; PROTEIN TRANSPORT; RECEPTORS, GABA-A; SUBCELLULAR FRACTIONS; TWINS, DIZYGOTIC;

EID: 84895463157     PISSN: 09201211     EISSN: 18726844     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2013.12.005     Document Type: Article

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