A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia.
Miraglia Del Giudice
E
E
Department of Paediatrics, Second University of Naples, Naples, Italy.
Coppola
G
G
Bellini
G
G
Ledaal
P
P
Hertz
J M
JM
Pascotto
A
A
D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D017434:Protein Structure, Tertiary; D018009:Receptors, Glycine / Q000737:chemistry* / Q000235:genetics*; D013216:Reflex, Startle / Q000502:physiology*
D018009:Receptors, Glycine