Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating

Journal of Neuroscience

Volumn 19, Issue 3, 1999, Pages 869-877

  Saul, Brigitta ^a   Kuner, Thomas ^b   Sobetzko, Diana ^a,d   Brune, Wolfram ^c   Hanefeld, Folker ^d   Meinck, Hans Michael ^c   Becker, Cord Michael ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b MAX PLANCK INSTITUTE FOR MEDICAL RESEARCH   (Germany)

^c UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^d UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

Glycine; Hyperekplexia; Inhibition; Receptor; Startle disease; Stiff baby syndrome

Indexed keywords

GLYCINE RECEPTOR; STRYCHNINE;

ALLELE; AMINO ACID SUBSTITUTION; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CHANNEL GATING; CHLORIDE CURRENT; DESENSITIZATION; GENE MUTATION; GENE STRUCTURE; GENETIC ANALYSIS; GENOME; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN STRUCTURE; RECEPTOR BINDING; SINGLE STRAND CONFORMATION POLYMORPHISM; STARTLE EPILEPSY; STIFF MAN SYNDROME;

EID: 0033080914     PISSN: 02706474     EISSN: None     Source Type: Journal    
DOI: 10.1523/jneurosci.19-03-00869.1999     Document Type: Article

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