Novel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia [2]
Novel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia [2]
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- University of Hong Kong China (People's Republic of)
- University of Hong Kong (香港大學) China (People's Republic of)
Heterozygote, Mutation, Missense, Receptors, Glycine - Genetics, Sequence Homology, Anticonvulsants - Therapeutic Use, Glycine - Genetics, Sequence Homology, Nucleic Acid, Receptors, Stiff-Person Syndrome - Diagnosis - Drug Therapy - Genetics, Humans, Child, Preschool, Nucleic Acid, Base Sequence, Clonazepam - Therapeutic Use, Infant, Newborn, Infant, Newborn, Dna Mutational Analysis, Treatment Outcome, Child, Preschool, Mutation, Female, Missense, Follow-Up Studies
Heterozygote, Mutation, Missense, Receptors, Glycine - Genetics, Sequence Homology, Anticonvulsants - Therapeutic Use, Glycine - Genetics, Sequence Homology, Nucleic Acid, Receptors, Stiff-Person Syndrome - Diagnosis - Drug Therapy - Genetics, Humans, Child, Preschool, Nucleic Acid, Base Sequence, Clonazepam - Therapeutic Use, Infant, Newborn, Infant, Newborn, Dna Mutational Analysis, Treatment Outcome, Child, Preschool, Mutation, Female, Missense, Follow-Up Studies
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