Hyperekplexia - A treatable neuropediatric disease;Hyperekplexie - Eine behandelbare neuropädiatrische erkrankung

Klinische Padiatrie

Volumn 217, Issue 4, 2005, Pages 220-221

  Freilinger, Michael ^a   Jalowetz, S ^a   Reiter, E ^a   Schubert, M T ^a   Seidl, R ^a  

^a UNIV KLIN KINDER JUGENDHEILKUNDE   (Austria)

Author keywords

Children; Hyperekplexia; Startle

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR STIMULATING AGENT; CLONAZEPAM; GLYCINE RECEPTOR; GLYCINE RECEPTOR ALPHA1 SUBUNIT; UNCLASSIFIED DRUG;

ADOLESCENT; APNEA; ARTICLE; ASPIRATION PNEUMONIA; AUTOSOMAL DOMINANT DISORDER; CHILD; CHILDHOOD DISEASE; DRUG CHOICE; EARLY DIAGNOSIS; GENE MUTATION; GENETIC COUNSELING; HUMAN; INJURY SCALE; MUSCLE HYPERTONIA; STARTLE EPILEPSY; STARTLE REFLEX; SUDDEN INFANT DEATH SYNDROME;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CEREBRAL CORTEX; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CLONAZEPAM; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; FOLLOW-UP STUDIES; GENES, DOMINANT; GENETIC MARKERS; HETEROZYGOTE DETECTION; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUSCLE HYPERTONIA; MUSCLE RIGIDITY; MYOCLONUS; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REFLEX, ABNORMAL; STARTLE REACTION; STIFF-PERSON SYNDROME; SUDDEN INFANT DEATH;

EID: 22244438866     PISSN: 03008630     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2004-820286     Document Type: Article

References (10)

1. Baker E, Sutherland GR, Schofield PR. Localization of the glycine receptor alpha 1 subunit gene (GLRA1) to chromosome 5q32 by FISH. Genomics 1994; 22: 491-493
2. Humeny A, Bonk T, Becker K, Jafari-Boroujerdi M, Stephani U, Reuter K, Becker CM. A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking. Eur J Hum Genet 2002; 10: 188-196
3. Kimber TE, Thompson PD. Symptomatik hyperekplexia occuring as a result of pontine infarction. Mov Disord 1997; 12: 814-816
4. Kingsmore SF. Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion. Nat Genet 1994; 7: 136-141
5. Kirstein L, Silfverskiold BP. A family with emotionally precipitated "drop seizures". Acta Psychiatr Neurol Scand 1958; 33: 471-476
6. Nigro MA, Lim HC. Hyperekplexia and sudden neonatal death. Pediatr Neurol 1992; 8: 221-225
7. Rees MI, Lewis TM, Kwok JB, Mortier GR, Govaert P, Snell RG, Schofield PR, Owen MJ. Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB). Hum Mol Genet 2002; 11: 853-860
8. Ryan SG, Sherman SL, Terry JC, Sparkes RS, Torres MC, Mackey RW. Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis. Ann Neurol 1992; 31: 663-668
9. Tijssen MA, Voorkamp LM, Padberg GW, Dijk JG van. Startle responses in hereditary hyperekplexia. Arch Neurol 1997; 54: 388-393
10. Zhou L, Chillag KL, Nigro MA. Hyperekplexia: a treatable neurogenetic disease. Brain & Development 2002; 24: 669-674