Novel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia.
Poon
Wing-Tat
WT
Au
Kam-Ming
KM
Chan
Yan-Wo
YW
Chan
Kwok-Yin
KY
Chow
Chun-Bong
CB
Tong
Sui-Fan
SF
Lam
Ching-Wan
CW
D000927:Anticonvulsants / Q000627:therapeutic use; D001483:Base Sequence; D002675:Child, Preschool; D002998:Clonazepam / Q000627:therapeutic use; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D020125:Mutation, Missense; D018009:Receptors, Glycine / Q000235:genetics*; D012689:Sequence Homology, Nucleic Acid; D016750:Stiff-Person Syndrome / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D016896:Treatment Outcome
D000927:Anticonvulsants; C000657604:GLRA1 protein, human; D018009:Receptors, Glycine; D002998:Clonazepam