Compound heterozygosity and nonsense mutations in the α1-subunit of the inhibitory glycine receptor in hyperekplexia

Human Genetics

Volumn 109, Issue 3, 2001, Pages 267-270

  Rees, M I ^a   Lewis, T M ^a   Vafa, B ^a   Ferrie, C ^a   Corry, P ^a   Muntoni, F ^a   Jungbluth, H ^a   Stephenson, J B P ^a   Kerr, M ^a   Snell, R G ^a   Schofield, P R ^a   Owen, M J ^a  

^a UNIVERSITY OF AUCKLAND   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA1 INHIBITORY GLYCINE RECEPTOR; AMINO ACID RECEPTOR; CHLORIDE CHANNEL; UNCLASSIFIED DRUG;

ALPHA CHAIN; ARTICLE; BETA CHAIN; CHANNEL GATING; CLINICAL ARTICLE; CONTROLLED STUDY; DNA FINGERPRINTING; DOMINANT INHERITANCE; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HETEROZYGOSITY; HUMAN; INHIBITORY POSTSYNAPTIC POTENTIAL; LIGAND BINDING; MISSENSE MUTATION; NEUROTRANSMISSION; NONSENSE MUTATION; POINT MUTATION; POSTSYNAPTIC MEMBRANE; PRIORITY JOURNAL; PROTEIN QUATERNARY STRUCTURE; RECESSIVE INHERITANCE; SINGLE STRAND CONFORMATION POLYMORPHISM; STARTLE EPILEPSY;

AMINO ACID SEQUENCE; BASE SEQUENCE; CODON, NONSENSE; DNA FINGERPRINTING; DNA, COMPLEMENTARY; HETEROZYGOTE; HUMANS; MUSCLE HYPERTONIA; MUTATION, MISSENSE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, GLYCINE; REFLEX, ABNORMAL; STARTLE REACTION;

EID: 0034804087     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390100569     Document Type: Article

References (11)

1. A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors
2. A frameshift mutation in the mouse alpha 1 glycine receptor gene (Glra1) results in progressive neurological symptoms and juvenile death
3. The inhibitory glycine receptor: A ligand-gated chloride channel of the central nervous system
4. Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel
5. Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor
6. 3)
7. Hyperekplexia: A syndrome of pathological startle responses
8. Familial rectal pain: A type of reflex epilepsy?
9. Mutational analysis of familial and sporadic hyperekplexia
10. Identification of a new ligand binding domain in the α1 subunit of the inhibitory glycine receptor
11. Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations