A mutation (V260M) in the middle of the M2 pore-lining domain of the glycine receptor causes hereditary hyperekplexia

European Journal of Human Genetics

Volumn 9, Issue 11, 2001, Pages 873-876

  Del Giudice, Emanuele Miraglia ^a   Coppola, Giangennaro ^a   Bellini, Giulia ^a   Cirillo, Grazia ^a   Scuccimarra, Goffredo ^a   Pascotto, Antonio ^a  

^a SECOND UNIVERSITY OF NAPLES   (Italy)

Author keywords

Glycine receptor; Hyperekplexia; Ion channels; Mutation analysis; Pore lining domain

Indexed keywords

GLYCINE RECEPTOR; ION CHANNEL; METHIONINE;

AMINO ACID SYNTHESIS; ARTICLE; CASE REPORT; CODON; EXON; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; INFANT; INHERITANCE; MALE; MISSENSE MUTATION; MUSCLE HYPERTONIA; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STARTLE EPILEPSY; STARTLE REFLEX;

AMINO ACID SEQUENCE; BASE SEQUENCE; BINDING SITES; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NERVOUS SYSTEM DISEASES; PEDIGREE; RECEPTORS, GLYCINE; SEQUENCE HOMOLOGY, AMINO ACID; STARTLE REACTION;

EID: 0035666557     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200729     Document Type: Article

References (11)

1. Mutation in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia
2. Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitor glycine receptor
3. Conserved quaternary structure of ligand-gated ion channels: The post-synaptic glycine receptor is a pentamer
4. Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel
5. Startle disease mutations reduce the agonist sensitivity of the human inhibitory glycine receptor
6. Startle disease: An avoidable cause of sudden infant death
7. Analysis of GLRA1 in hereditary and sporadic hyperekplexia: A novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis
8. Genetics, an alternative way to discover, characterize and understand ion channels
9. A novel mutation (Gln 266His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia
10. Genetic manipulation of ion channels: A new approach to structure and mechanism
11. The startle disease mutation Q266H, in the second transmembrane domain of the human glycine receptor, impairs channel gating