Hyperekplexia (Startle Disease): A Novel Mutation (S270T) in the M2 Domain of the GLRA1 Gene and a Molecular Review of the Disorder

Molecular Diagnosis

Volumn 7, Issue 2, 2003, Pages 125-128

  Lapunzina, Pablo ^a   Sánchez, Juan M ^a   Cabrera, Marta ^a   Moreno, Ana ^a   Delicado, Alicia ^a   De Torres, Maria L ^a   Mori, Angeles M ^a   Quero, José ^a   Lopez Pajares, Isidora ^a  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ALIMEMAZINE; DNA FRAGMENT; GENOMIC DNA; GLYCINE RECEPTOR; GLYCINE RECEPTOR ALPHA1; PRIMER DNA; RECEPTOR SUBUNIT;

ALPHA CHAIN; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; AUDITORY STIMULATION; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHEMISTRY; CLINICAL FEATURE; COMPARATIVE STUDY; CORRELATION ANALYSIS; DNA SEQUENCE; ELECTROPHORESIS; EXON; FALLING; FAMILY; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETICS; HUMAN; HUMAN CELL; INHERITANCE; LEUKOCYTE; MALE; METABOLIC ACIDOSIS; MOLECULAR GENETICS; MUSCLE CONTRACTION; MUSCLE HYPERTONIA; NEWBORN; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTEIN DOMAIN; PROTEIN TERTIARY STRUCTURE; PUBLICATION; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; STANDARD; STARTLE EPILEPSY; STARTLE REFLEX; TACTILE STIMULATION;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, GLYCINE; SEQUENCE HOMOLOGY, AMINO ACID; STARTLE REACTION;

EID: 0242608377     PISSN: 10848592     EISSN: None     Source Type: Journal    
DOI: 10.2165/00066982-200307020-00006     Document Type: Article

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