Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia

Journal of Neuroscience

Volumn 30, Issue 28, 2010, Pages 9612-9620

  Chung, Seo Kyung ^a   Vanbellinghen, Jean François ^b   Mullins, Jonathan G L ^a   Robinson, Angela ^a   Hantke, Janina ^c   Hammond, Carrie L ^a   Gilbert, Daniel F ^d   Freilinger, Michael ^e   Ryan, Monique ^f   Kruer, Michael C ^g   Masri, Amira ^h   Gurses, Candan ⁱ   Ferrie, Colin ^j   Harvey, Kirsten ^c   Shiang, Rita ^k   Christodoulou, John ^l,m   Andermann, Frederick ⁿ   Andermann, Eva ⁿ   Thomas, Rhys H ^a   Harvey, Robert J ^c   Lynch, Joseph W ^d   Rees, Mark I ^a   more..

^a SWANSEA UNIVERSITY   (United Kingdom)

^b UNIVERSITY OF LIÈGE   (Belgium)

^c UNIVERSITY OF LONDON   (United Kingdom)

^d UNIVERSITY OF QUEENSLAND   (Australia)

^e MEDICAL UNIVERSITY OF VIENNA   (Austria)

^f ROYAL CHILDREN'S HOSPITAL   (Australia)

^g OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^h UNIVERSITY OF JORDAN   (Jordan)

ⁱ ISTANBUL UNIVERSITY   (Turkey)

^j LEEDS GENERAL INFIRMARY   (United Kingdom)

^k VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^l CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^m UNIVERSITY OF SYDNEY   (Australia)

ⁿ MCGILL UNIVERSITY   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GLYCINE RECEPTOR; GLYCINE RECEPTOR ALPHA 1; UNCLASSIFIED DRUG;

ARTICLE; BIOTINYLATION; CELLULAR DISTRIBUTION; CONTROLLED STUDY; DNA SEQUENCE; DOMINANT INHERITANCE; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HUMAN CELL; HYPEREKPLEXIA; IMAGING SYSTEM; MAJOR CLINICAL STUDY; MALE; MOLECULAR MODEL; NERVOUS SYSTEM ELECTROPHYSIOLOGY; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RECESSIVE INHERITANCE;

CELL LINE; FEMALE; GENETIC VARIATION; HUMANS; MALE; MUSCLE HYPERTONIA; MUTATION; PHENOTYPE; RECEPTORS, GLYCINE; REFLEX, ABNORMAL; STARTLE REACTION; TRANSFECTION;

EID: 77954749964     PISSN: 02706474     EISSN: 15292401     Source Type: Journal    
DOI: 10.1523/JNEUROSCI.1763-10.2010     Document Type: Article

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