TY - GEN AU - Gregory,Mary L AU - Guzauskas,Greg F AU - Edgar,Terence S AU - Clarkson,Kate B AU - Srivastava,Anand K AU - Holden,Kenton R TI - A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype SN - 1708-8283 PY - 2009///0408 KW - Adult KW - Black or African American KW - Arginine KW - genetics KW - Child KW - Child, Preschool KW - Chromosomes, Human, Pair 5 KW - DNA Mutational Analysis KW - methods KW - Family Health KW - Female KW - Humans KW - Male KW - Middle Aged KW - Muscle Hypertonia KW - Mutation KW - Phenotype KW - Proline KW - Receptors, Glycine KW - Reflex, Abnormal N1 - Publication Type: Journal Article UR - https://doi.org/10.1177/0883073808320754 ER -