Hyperekplexia in the first year of life

Movement Disorders

Volumn 15, Issue 6, 2000, Pages 1293-1296

  Koning Tijssen, Marina A J ^a   Brouwer, O F ^b  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCINE RECEPTOR; RECEPTOR SUBUNIT;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; CHROMOSOME 5; CLINICAL FEATURE; FAMILY HISTORY; FEMALE; GENE LOCUS; GENETIC LINKAGE; HEAD MOVEMENT; HETEROZYGOSITY; HUMAN; HYPERREFLEXIA; HYPOKINESIA; INFANT; MUSCLE STIFFNESS; ONSET AGE; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL; STARTLE EPILEPSY; VIDEORECORDING;

CHILD DEVELOPMENT; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; HYPOKINESIA; INFANT; INFANT, NEWBORN; MUSCLE HYPERTONIA; NEUROLOGIC EXAMINATION; POINT MUTATION; REFLEX, ABNORMAL; STARTLE REACTION; SYNDROME; VIDEOTAPE RECORDING;

EID: 0033709567     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8257(200011)15:6<1293::AID-MDS1047>3.0.CO;2-K     Document Type: Article

References (38)

1. Hyperexplexia, a hereditary startle syndrome
2. Startle disease, or hyperekplexia: Response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis
3. Startle disease or hyperekplexia: Further delineation of the syndrome
4. Hyperexplexia: An inherited disorder of the startle response
5. Hyperekplexia
6. Hyperekplexia: A syndrome of pathological startle responses
7. Familial startle disease (hyperexplexia). Electrophysiologic studies
8. The hyperekplexias and their relationship to the normal startle reflex
9. Hyperekplexia: Pedigree studies in two families
10. Nose tapping test inducing a generalized flexor spasm: A hallmark of hyperekplexia
11. Familial hyperekplexia: Startle disease. Clinical, electrophysiological and genetic study of a family
12. Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia
13. Mutational analysis of familial and sporadic hyperekplexia
14. Molecular genetic reevaluation of the Dutch hyperekplexia family
15. A novel mutation (Gln266←His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia
16. Analysis of GLRA1 in hereditary and sporadic hyperekplexia: A novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis
17. Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating
18. 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
19. A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors
20. Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations
21. Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease
22. Vigabatrin for startle-disease with altered cerebrospinal-fluid free gamma-aminobutyric acid
23. Complete heart block in nonfamilial hyperekplexia
24. Hyperekplexia-like syndromes without mutations in the GLRA1 gene
25. Neonatal sporadic hyperekplexia: A rare and often unrecognized entity
26. Familial congenital disorder resembling stiff-man syndrome
27. Hereditary stiff-baby syndrome
28. Hyperekplexia associated with apnea and sudden infant death syndrome
29. Genetic mapping and evaluation of candidate genes for spasmodic, a neurological mouse mutation with abnormal startle response
30. A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse
31. Isoform-selective deficit of glycine receptors in the mouse mutant spastic
32. Phenotypic heterogeneity and disease course in three murine strains with mutations in genes encoding for alpha 1 and beta glycine receptor subunits
33. Glycine receptor heterogeneity in rat spinal cord during postnatal development
34. Alternative splicing generates two isoforms of the alpha 2 subunit of the inhibitory glycine receptor
35. Identification and functional expression of a novel ligand binding subunit of the inhibitory glycine receptor
36. Ascending and descending pathways of the spinal cord
37. Do the corticospinal and corticobulbar tracts mediate functions in the human newborn?
38. Physiological studies of spinal inhibitory pathways in patients with hereditary hyperekplexia