Hyperekplexia caused by dominant-negative suppression of glyra1 function.
Bellini
G
G
Department of Pediatrics, 2nd University of Naples, Naples, Italy.
Miceli
F
F
Mangano
S
S
Miraglia del Giudice
E
E
Coppola
G
G
Barbagallo
A
A
Taglialatela
M
M
Pascotto
A
A
D018389:Codon, Nonsense; D006801:Humans; D007223:Infant; D008297:Male; D009422:Nervous System Diseases / Q000235:genetics*; D010375:Pedigree; D018009:Receptors, Glycine / Q000235:genetics*; D013216:Reflex, Startle
D018389:Codon, Nonsense; D018009:Receptors, Glycine