Clinical features and genetic analysis of children with hyperekplexia in Korea

Journal of Child Neurology

Volumn 28, Issue 1, 2013, Pages 90-94

  Lee, Cha Gon ^a   Kwon, Min Jung ^b   Yu, Hee Joon ^a   Nam, Sook Hyun ^c   Lee, Jeehun ^a   Ki, Chang Seok ^a   Lee, Munhyang ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b School of Medicine   (South Korea)

^c Eulji General Hospital   (South Korea)

Author keywords

gene; GLRA1; GLRB; hyperekplexia; Korea; mutation; startle

Indexed keywords

ARHGEF9 PROTEIN; CARRIER PROTEINS AND BINDING PROTEINS; CLOBAZAM; CLONAZEPAM; GENOMIC DNA; GLRA1 PROTEIN; GLRB PROTEIN; GLYCINE RECEPTOR; GLYCINE TRANSPORTER 2; GPHN PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DIAGNOSTIC ERROR; EPILEPSY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GLRA1 GENE; GLRB GENE; HUMAN; HUMAN CELL; HYPEREKPLEXIA; KOREA; LEUKOCYTE; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; STARTLE REFLEX;

CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; GENETIC DISEASES, X-LINKED; GLYCINE PLASMA MEMBRANE TRANSPORT PROTEINS; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; RECEPTORS, GLYCINE; REFLEX, ABNORMAL; REPUBLIC OF KOREA; RETROSPECTIVE STUDIES; SEVERITY OF ILLNESS INDEX;

EID: 84871538005     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073812441058     Document Type: Article

References (24)

1. Bakker MJ, van Dijk JG, van den Maagdenberg AM, Tijssen MA. Startle syndromes. Lancet Neurol. 2006 ; 5: 513-524
2. Shiang R, Ryan SG, Zhu YZ, Hahn AF, O'Connell P, Wasmuth JJ. Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nat Genet. 1993 ; 5: 351-358
3. Harvey RJ, Topf M, Harvey K, Rees MI. The genetics of hyperekplexia: more than startle!. Trends Genet. 2008 ; 24: 439-447
4. de Koning-Tijssen MAJ, Rees MI GeneReviews. Pagon RA Bird TD Dolan CR Stephens K, ed. Seattle, WA: University of Washington ; 1993 :
5. Kang HC, Jeong You S, Jae Chey M, Sam Baik J, Kim JW, Ki CS. Identification of a de novo Lys304Gln mutation in the glycine receptor alpha-1 subunit gene in a Korean infant with hyperekplexia. Mov Disord. 2008 ; 23: 610-613
6. Andrew M, Owen MJ. Hyperekplexia: abnormal startle response due to glycine receptor mutations. Br J Psychiatry. 1997 ; 170: 106-108
7. Lynch JW. Molecular structure and function of the glycine receptor chloride channel. Physiol Rev. 2004 ; 84: 1051-1095
8. Grudzinska J, Schemm R, Haeger S, et al. The beta subunit determines the ligand binding properties of synaptic glycine receptors. Neuron. 2005 ; 45: 727-739
9. Macaya A, Brunso L, Fernandez-Castillo N, et al. Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study. Neuropediatrics. 2005 ; 36: 389-394
10. Milani N, Dalpra L, del Prete A, Zanini R, Larizza L. A novel mutation (Gln266-His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia. Am J Hum Genet. 1996 ; 58: 420-422
11. Bernasconi A, Regli F, Schorderet DF, Pescia G. [Familial hyperekplexia: startle disease. Clinical, electrophysiological and genetic study of a family]. Rev Neurol (Paris). 1996 ; 447-450 ([in French]). 152
12. Brown P, Rothwell JC, Thompson PD, Britton TC, Day BL, Marsden CD. The hyperekplexias and their relationship to the normal startle reflex. Brain. 1991 ; 114 (pt 4). 1903-1928
13. Andermann F, Keene DL, Andermann E, Quesney LF. Startle disease or hyperekplexia: further delineation of the syndrome. Brain. 1980 ; 103: 985-997
14. Gaitatzis A, Kartsounis LD, Gacinovic S, et al. Frontal lobe dysfunction in sporadic hyperekplexia-case study and literature review. J Neurol. 2004 ; 251: 91-98
15. 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
16. Rees MI, Lewis TM, Kwok JB, et al. Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB). Hum Mol Genet. 2002 ; 11: 853-860
17. 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
18. 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
19. Davies JS, Chung SK, Thomas RH, et al. The glycinergic system in human startle disease: a genetic screening approach. Front Mol Neurosci. 2010 ; 3: 8
20. Rivera S, Villega F, de Saint-Martin A, et al. Congenital hyperekplexia: five sporadic cases. Eur J Pediatr. 2006 ; 165: 104-107
21. Zhou L, Chillag KL, Nigro MA. Hyperekplexia: a treatable neurogenetic disease. Brain Dev. 2002 ; 24: 669-674
22. Saenz-Lope E, Herranz-Tanarro FJ, Masdeu JC, Chacon Pena JR. Hyperekplexia: a syndrome of pathological startle responses. Ann Neurol. 1984 ; 15: 36-41
23. Sechi G, Sotgiu S, Valenti MP, et al. Beneficial effect of fluoxetine in a case of sporadic hyperekplexia. Clin Neuropharmacol. 2000 ; 23: 161-163
24. Luef GJ, Loscher WN. The effect of levetiracetam in startle disease. J Neurol. 2007 ; 254: 808-809