Congenital hyperekplexia: Five sporadic cases

European Journal of Pediatrics

Volumn 165, Issue 2, 2006, Pages 104-107

  Rivera, Serge ^a   Villega, Frédéric ^a   De Saint Martin, Anne ^a   Matis, Jacqueline ^a   Escande, Benoît ^a   Chaigne, Denys ^a   Astruc, Dominique ^a  

^a UNIVERSITY HOSPITAL OF STRASBOURG   (France)

Author keywords

Neonatal apnea; Startle; Stimuli; Tonic attack

Indexed keywords

CLONAZEPAM; GLYCINE RECEPTOR; GLYCINE RECEPTOR ALPHA1; UNCLASSIFIED DRUG; VALPROIC ACID;

ALPHA CHAIN; APNEA; ARTICLE; BRAIN MALFORMATION; CHROMOSOME 5; CHROMOSOME MUTATION; CLINICAL ARTICLE; DISEASE COURSE; DISEASE SEVERITY; DRUG EFFICACY; ELECTROENCEPHALOGRAPHY; FEMALE; HIGH RISK INFANT; HUMAN; MALE; MUSCLE HYPERTONIA; NEWBORN; NOSE; PERCUSSION; PRIORITY JOURNAL; PROTEIN DEFECT; PSYCHOMOTOR DEVELOPMENT; RIGIDITY; SOUND INTENSITY; STARTLE EPILEPSY; STARTLE REFLEX; SUDDEN INFANT DEATH SYNDROME; TACTILE STIMULATION; TONIC SEIZURE;

ANTICONVULSANTS; BATHS; CLONAZEPAM; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MUSCLE HYPERTONIA; NOISE; STARTLE REACTION; TOUCH;

EID: 29744448760     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-005-0015-x     Document Type: Article

References (25)

1. Altunbasak S, Baytok A (1996) Startle disease: two sibling cases. Seizure 5:313-315
2. Andermann F, Andermann E (1988) Startle disorders of man, hyperekplexia, jumping and startle epilepsy. Brain Develop 10 (4):213-221
3. Andermann F, Keene DL, Andermann E, Quesney LF (1980) Startle disease or hyperekplexia: future delineation of the syndrome. Brain 103:985-997
4. Becker E, Sutherland GR, Schofiel PR (1994) Localisation of the glycine receptor gene (GLRA1) to chromosome 5q32 by fish. Genomics 22:491-493
5. Bernasconi A, Régli F, Schorderet DF, Pescia G (1996) Hyperekplexia familiale: la maladie du sursaut. Rev Neurol 152(6-7):447-450
6. Brown P, Rothwell JC, Thompson TC, Britton TC, Day BL, Marsen CD (1991) The hyperekplexia and their relationship to the normal startle reflex. Brain 14:1903-1928
7. Dias Gherpelli JL, Nogueira Jr AR Troster EJ, Daghostinho Deutsch A, Rodrigues Leone C, Wilson Iervolino Brotto M, Diament A, Aaraujo Ramos JL (1995) Hyperekplexia, a cause of neonatal apnea: a case report. Brain Develop 17:114-116
8. Elmslie FV, Hutchings SM, Spencer V, Curtis A, Covanis T, Gardiner RM, Rees M (1996) Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis. J Med Genet 33:435-436
9. Gastaud H, Villeneuve A (1967) The startle disease or hyperekplexia: pathological surprise reaction. J Neurol Sci 5:523-542
10. Golbert SL, Ozdag F, Ulas UH, Dobyns WB, Lahn BT (2004) Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families. Mol Diagn 8(3):151-155
11. Lobera E, Campistol J, Garcia-Garcia JJ, Colomer J, Riverola A (1997) Congenital hyperekplexia as a cause of neonatal hypertonia. Rev Neurol 25(137):86-88
12. Nigro MA, Lim HC-N (1989) Hyperekplexia and sudden neonatal death. Pediatr Neurol 8(3):221-225
13. Oguro K, Hirano K, Aiba H (2005) Trigeminally induced startle in children with hyperekplexia. Mov Disord 20(4):484-489
14. Praveen V, Patole SK, Whitehall JS (2001) Hyperekplexia in neonates. Postgrad Med J 77(911):570-572
15. Ryan SG, Sherman SL, Terry JC, Sparkes RS, Torres C, Mackey RW (1992) Startle disease, or hyperekplexia response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis. Ann Neurol 31(6):663-667
16. Scarcella A, Coppola G (1997) Neonatal sporadic hyperekplexia: a rare and often unrecognized entity. Brain Develop 19 (3):226-228
17. Sechi G, Sotgiu S, Valenti MP, Pitzolu MG, Peterlongo P, Larizza L, Rosati G (2000) Beneficial effect of fluorexine in a case of sporadic hyperekplexia. Clin Neuropharmacol 23(3): 161-163
18. Shiang R, Ryan SG, Zhu YZ, Fielder TJ, Allen RJ, Fryer A, Yamashita S, O'Connell P, Wasmuth JJ (1995) Mutational analysis of familial and sporadic hyperekplexia. Ann Neurol 38:85-91
19. Shiang R, Ryan SG, Zhu YZ, Hahn AF, O'Connell P, Wasmuth JJ (1993) Mutation in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nat Genet 5:351-357
20. Suhren O, Bruyn GW, Tuynman JA (1966) Hyperekplexia: a hereditary startle syndrome. J Neurol Sci 3:577-605
21. Tijssen MAJ, Shiang R, van Deutekom J, Boerman RH, Wasmuth JJ, Sandkuijl LA, Frants RR, Padberg GW (1995) Molecular genetic reevaluation of the Dutch hyperekplexia family. Arch Neurol 52:578-582
22. Tijssen MAJ, Voorkamp LM, Padberg GW, Gert Van Dijk J (1997) Startle responses in hereditary hyperekplexia. Arch Neurol 54:388-393
23. Tsai CH, Chang FC, Su YC, Tsai FJ, Lu MK, Lee CC, Kuo CC, Yang YW, Lu CS (2004) Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia family. Neurology 63(5):893-896
24. Vigevano F, Di Capua M, Dalla-Bernardina B (1989) Startle disease: an available cause of sudden infant death. Lancet 28 (8631):216
25. Zhou L, Chillag KL, Nigro MA (2002) Hyperekplexia: a treatable neurogenetic disease. Brain Develop 24(7):669-674