Clinical and inheritance profiles of hyperekplexia in Jordan

Journal of Child Neurology

Volumn 22, Issue 7, 2007, Pages 895-900

  Masri, Amira Taher ^a   Hamamy, Hanan A ^b  

^a UNIVERSITY OF JORDAN   (Jordan)

^b National Center for Diabetes Endocrinology and Genetics Jordan   (Jordan)

Author keywords

Hereditary startle disease; Hyperekplexia

Indexed keywords

CLONAZEPAM; PHENOBARBITAL; PHENYTOIN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE CONTROL; DISEASE EXACERBATION; DISEASE SEVERITY; DRUG DOSE INCREASE; DRUG DOSE REDUCTION; ELECTROENCEPHALOGRAPHY; EPILEPSY; FAMILY STUDY; FEMALE; FOLLOW UP; GENETIC COUNSELING; HUMAN; HYPEREKPLEXIA; INFANT; JORDAN; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SEIZURE;

CHILD; CHILD, PRESCHOOL; FAMILY HEALTH; FEMALE; HUMANS; INFANT; INHERITANCE PATTERNS; JORDAN; MALE; MOVEMENT DISORDERS; PEDIGREE; REFLEX, ABNORMAL; SEIZURES; STARTLE REACTION; SYNDROME;

EID: 34547855884     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073807304704     Document Type: Article

References (22)

1. Suhren O., Bruyn GW, Tuynman A. Hyperexplexia, a hereditary startle syndrome. J Neurol Sci. 1966;3:577-605.
2. Zhou L., Kipp L., Chillag KL, Nigro MA Hyperekplexia: A treatable neurogenetic disease. Brain Dev. 2002;24:669-674.
3. Hayashi T., Tachibana H., Kajii T. Hyperekplexia: Pedigree studies in two families. Am J Med Genet. 1991;40:138-143.
4. McMaster P., Cadzow S., Vince J., Appleton B. Hyperekplexia: A rare differential of neonatal fits described in a developing country. Ann Trop Paediatr. 1999;19:345-348.
5. Brown P. The startle syndrome. Mov Disord. 2002;17:79-82.
6. Brown P., Rothwell JC, Thompson PD, et al. The hyperekplexias and their relationship to the normal startle reflex. Brain. 1991;114(pt4):1903-1928.
7. Kurczynski TW Hyperekplexia. Arch Neurol. 1983;40:246-248.
8. Tijssen MA, Vergouwe MN, Van Dijk JG, et al. Major and minor form of hereditary hyperekplexia. Mov Disord. 2002;17:826-830.
9. Leventer RJ, Hopkins IJ, Shield LK Hyperekplexia as a cause of abnormal intrauterine movements [letter]. Lancet. 1995;345:461.
10. Tohier C., Roze JC, David A., et al. Hyperekplexia or stiff baby syndrome. Arch Dis Child. 1991;66:460-461.
11. Koning-Tijssen MA, Brouwer OF Hyperekplexia in the first year of life. Mov Disord. 2000;15:1293-1296.
12. Andermann F., Keene DL, Andermann E., Quesney LF Startle disease or hyperekplexia: Further delineation of the syndrome. Brain. 1980;103:985-997.
13. Lerman-Sagie T., Watemberg N., Vinkler C., et al. Familial hyperekplexia and refractory status epilepticus: A new autosomal recessive syndrome. J Child Neurol. 2004;19:522-525.
14. Nigro MA, Lim HC Hyperekplexia and sudden neonatal death. Pediatr Neurol. 1992;8:221-225.
15. Giacoia GP, Ryan SG Hyperekplexia associated with apnea and sudden infant death syndrome. Arch Pediatr Adolesc Med. 1994;148:540-543.
16. Vigevano F., Di Capua M, Dalla Bernardina B. Startle disease: An avoidable cause of sudden infant death. Lancet. 1989;1:216.
17. Rees MI, Harvey K., Pearce BR, et al. Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease. Nat Genet. 2006;38:801-806.
18. Rees MI, Lewis TM, Vafa B., et al. Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia. Hum Genet. 2001;109:267-270.
19. Rees MI, Andrew M., Jawad S., Owen MJ 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. Hum Mol Genet. 1994;3:2175-2179.
20. Rees MI, Lewis TM, Kwok JB Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB). Hum Mol Genet. 2002;11:853-860.
21. Rees MI, Harvey K., Ward H., et al. Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia. J Biol Chem. 2003;278:24688-24696.
22. Harvey K., Duguid IC, Alldred MJ, et al. The GDP-GTP exchange factor collybistin: An essential determinant of neuronal gephyrin clustering. J Neurosci. 2004;24:5816-5826.