-
1
-
-
0019225609
-
Startle disease or hyperekplexia: Further delineation of the syndrome
-
Andermann, F., Keene, D.L., Andermann, E. and Quesney, L.F. (1980) Startle disease or hyperekplexia: further delineation of the syndrome. Brain, 103: 985-997.
-
(1980)
Brain
, vol.103
, pp. 985-997
-
-
Andermann, F.1
Keene, D.L.2
Andermann, E.3
Quesney, L.F.4
-
2
-
-
0028342827
-
Possible involvement of a gamma-hydroxybutyric acid receptor in startle disease
-
Berthier, M., Bonneau, D., Desbordes, J.M., et al. (1994) Possible involvement of a gamma-hydroxybutyric acid receptor in startle disease. Acta Paediatr., 83: 678-680.
-
(1994)
Acta Paediatr.
, vol.83
, pp. 678-680
-
-
Berthier, M.1
Bonneau, D.2
Desbordes, J.M.3
-
3
-
-
0025900901
-
The hyperekplexias and their relationship to the normal startle reflex
-
Brown, P., Rothwell, J.C., Thompson, P.D., et al. (1991) The hyperekplexias and their relationship to the normal startle reflex. Brain, 114: 1903-1928.
-
(1991)
Brain
, vol.114
, pp. 1903-1928
-
-
Brown, P.1
Rothwell, J.C.2
Thompson, P.D.3
-
4
-
-
0017083079
-
Clonazepam: A review of a new anticonvulsant drug
-
Brown, R.T. (1976) Clonazepam: a review of a new anticonvulsant drug. Arch. Neurol., 33; 326-332.
-
(1976)
Arch. Neurol.
, vol.33
, pp. 326-332
-
-
Brown, R.T.1
-
5
-
-
84987469571
-
The use of analogue scales in rating subjective feelings
-
Bond, A. and Lader, M. (1974) The use of analogue scales in rating subjective feelings. Br. J. Med. Psychol., 47: 211-218.
-
(1974)
Br. J. Med. Psychol.
, vol.47
, pp. 211-218
-
-
Bond, A.1
Lader, M.2
-
6
-
-
0024583109
-
Startle disease or hyperekplexia: Adolescent onset and response to valproate
-
Dooley, J.M. and Andermann, F. (1989) Startle disease or hyperekplexia: adolescent onset and response to valproate. Pediatr. Neurol., 5: 126-127.
-
(1989)
Pediatr. Neurol.
, vol.5
, pp. 126-127
-
-
Dooley, J.M.1
Andermann, F.2
-
7
-
-
0343346072
-
Benzodiazepines, Clonazepam
-
Woodbury D.M. et al. Raven press, New York, NY
-
Dreifuss, F.E. and Sato, S. (1982) Benzodiazepines, Clonazepam. In: Woodbury D.M. et al. Antiepileptic Drugs, 2nd ed. Raven press, New York, NY, pp. 737-752.
-
(1982)
Antiepileptic Drugs, 2nd Ed.
, pp. 737-752
-
-
Dreifuss, F.E.1
Sato, S.2
-
8
-
-
0026683048
-
Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease
-
Dubowitz, L.M.S., Bouza, H., Hird, M.F. and Jaeken, J. (1992) Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease. Lancet, 340; 80-81.
-
(1992)
Lancet
, vol.340
, pp. 80-81
-
-
Dubowitz, L.M.S.1
Bouza, H.2
Hird, M.F.3
Jaeken, J.4
-
9
-
-
0014151623
-
The startle disease or hyperekplexia, pathological surprise reaction
-
Gastaut, H. and Villeneuve, A. (1967) The startle disease or hyperekplexia, pathological surprise reaction. J. Neurol. Sci., 5: 523-542.
-
(1967)
J. Neurol. Sci.
, vol.5
, pp. 523-542
-
-
Gastaut, H.1
Villeneuve, A.2
-
10
-
-
0025781128
-
Hyperekplexia: Pedigree studies in two families
-
Hayashi, T., Tachibana, H. and Kajii, T. (1991) Hyperekplexia: pedigree studies in two families. Am. J. Med. Genet., 40: 138-143.
-
(1991)
Am. J. Med. Genet.
, vol.40
, pp. 138-143
-
-
Hayashi, T.1
Tachibana, H.2
Kajii, T.3
-
11
-
-
0003812479
-
Hyperekplexia: Effective treatment with clonazepam
-
Kelts, K.A. and Harrison, J. (1988) Hyperekplexia: Effective treatment with clonazepam. Ann. Neurol., 24: 309.
-
(1988)
Ann. Neurol.
, vol.24
, pp. 309
-
-
Kelts, K.A.1
Harrison, J.2
-
12
-
-
0015425941
-
Familial congenital disorder resembling stiff-man syndrome
-
Klein, R., Haddow, J.E. and DeLuca, C. (1972) Familial congenital disorder resembling stiff-man syndrome. Am. J. Dis. Child., 124: 730-732.
-
(1972)
Am. J. Dis. Child.
, vol.124
, pp. 730-732
-
-
Klein, R.1
Haddow, J.E.2
DeLuca, C.3
-
13
-
-
0028016521
-
Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia
-
Langosch, D., Laube, B., Rundström, N., et al. (1994) Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia. EMBO J., 18: 4223-4228.
-
(1994)
EMBO J.
, vol.18
, pp. 4223-4228
-
-
Langosch, D.1
Laube, B.2
Rundström, N.3
-
14
-
-
0021357407
-
Familial startle disease (Hyperekplexia)
-
Markand et al. (1984) Familial startle disease (Hyperekplexia). Arch. Neurol., 41: 71-74.
-
(1984)
Arch. Neurol.
, vol.41
, pp. 71-74
-
-
Markand1
-
15
-
-
0028927041
-
Complete heart block in nonfamilial hyperekplexia
-
McAbee, G.N., Kadakia, S.K., Sisley, K.C., et al. (1995) Complete heart block in nonfamilial hyperekplexia. Pediatr. Neurol., 12: 149-151.
-
(1995)
Pediatr. Neurol.
, vol.12
, pp. 149-151
-
-
McAbee, G.N.1
Kadakia, S.K.2
Sisley, K.C.3
-
16
-
-
17144462671
-
L'hyperexplexia: La maladie du sursaut
-
Melki, I., Rizkallah, E. and Akatcherian, C. (1988) L'hyperexplexia: la maladie du sursaut. Pédiatrie, 43: 35-37.
-
(1988)
Pédiatrie
, vol.43
, pp. 35-37
-
-
Melki, I.1
Rizkallah, E.2
Akatcherian, C.3
-
17
-
-
0025985077
-
Knowledge, attitude and practice in antiepileptic drug monitoring
-
Meyer, J.W.A. (1991) Knowledge, attitude and practice in antiepileptic drug monitoring. Acta Neurol. Scand., suppl., 83: 1-28.
-
(1991)
Acta Neurol. Scand., Suppl.
, vol.83
, pp. 1-28
-
-
Meyer, J.W.A.1
-
18
-
-
0019980517
-
Hyperekplexia: An inherited disorder of startle response
-
Morley, D.J., Weaver, D.D., Garg, B.P. and Markand, O. (1982) Hyperekplexia: an inherited disorder of startle response. Clin. Genet., 21: 388-396.
-
(1982)
Clin. Genet.
, vol.21
, pp. 388-396
-
-
Morley, D.J.1
Weaver, D.D.2
Garg, B.P.3
Markand, O.4
-
20
-
-
0026795017
-
Neonatal hyperekplexia: A case report
-
Pascotto, A. and Coppola, G. (1992) Neonatal hyperekplexia: A case report. Epilepsia, 33: 817-820.
-
(1992)
Epilepsia
, vol.33
, pp. 817-820
-
-
Pascotto, A.1
Coppola, G.2
-
21
-
-
0028831226
-
Mutation of an arginine residue in the human glycine receptor transforms β-alanine and taurine from agonists into competitive antagonists
-
Rajendra, S., Lynch, J.W., Pierce, K.D., et al. (1995) Mutation of an arginine residue in the human glycine receptor transforms β-alanine and taurine from agonists into competitive antagonists. Neuron, 14: 169-175.
-
(1995)
Neuron
, vol.14
, pp. 169-175
-
-
Rajendra, S.1
Lynch, J.W.2
Pierce, K.D.3
-
22
-
-
0026749546
-
Genetic and radiation hybrid mapping of the Hyperekplexia region on chromosome 5q
-
Ryan, S.G., Dixon, M.J., Nigro, M.A., et al. (1992) Genetic and radiation hybrid mapping of the Hyperekplexia region on chromosome 5q. Am. J. Hum. Genet, 51: 1334-1343.
-
(1992)
Am. J. Hum. Genet
, vol.51
, pp. 1334-1343
-
-
Ryan, S.G.1
Dixon, M.J.2
Nigro, M.A.3
-
23
-
-
0021350671
-
Hyperekplexia: A syndrome of pathological startle responses
-
Saenz-Lope, E., Herranz-Tanarro, F.J., Masdeu, J.C., Chacon and Pena, R. (1984) Hyperekplexia: A syndrome of pathological startle responses. Ann. Neurol., 15: 36-41.
-
(1984)
Ann. Neurol.
, vol.15
, pp. 36-41
-
-
Saenz-Lope, E.1
Herranz-Tanarro, F.J.2
Masdeu, J.C.3
Chacon4
Pena, R.5
-
24
-
-
0003048747
-
Benzodiazepines, clonazepam
-
R.H. Levy et al. (Eds.), Raven Press, New York, NY
-
Sato, S. (1989) Benzodiazepines, clonazepam. In: R.H. Levy et al. (Eds.), Antiepileptic Drugs, 3rd ed. Raven Press, New York, NY, pp. 765-784.
-
(1989)
Antiepileptic Drugs, 3rd Ed.
, pp. 765-784
-
-
Sato, S.1
-
25
-
-
0027424165
-
Mutation of glycine receptor subunit creates β-alanine receptor responsive to GABA
-
Schmieden, V., Kuhse, J. and Betz, H. (1993) Mutation of glycine receptor subunit creates β-alanine receptor responsive to GABA. Science, 262: 256-258.
-
(1993)
Science
, vol.262
, pp. 256-258
-
-
Schmieden, V.1
Kuhse, J.2
Betz, H.3
-
26
-
-
0026006850
-
Nose tapping test inducing a generalized flexor spasm: A hallmark of Hyperekplexia
-
Shahar, E., Brand, N., Uziel, Y. and Barak, Y. (1991) Nose tapping test inducing a generalized flexor spasm: a hallmark of Hyperekplexia. Acta, Paediatr. Scand., 80: 1073-1077.
-
(1991)
Acta, Paediatr. Scand.
, vol.80
, pp. 1073-1077
-
-
Shahar, E.1
Brand, N.2
Uziel, Y.3
Barak, Y.4
-
27
-
-
0027330927
-
Mutations in the cd subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia
-
Shiang, R., Ryan, S.G., Zhu, Y., et al. (1993) Mutations in the cd subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nat. Genet., 5: 351-357.
-
(1993)
Nat. Genet.
, vol.5
, pp. 351-357
-
-
Shiang, R.1
Ryan, S.G.2
Zhu, Y.3
-
28
-
-
0029038869
-
Mutational analysis of familial and sporadic hyperekplexia
-
Shiang, R., Ryan, S.G., Zhen, Z.R., et al. (1995) Mutational analysis of familial and sporadic hyperekplexia. Ann. Neurol., 38: 85-91.
-
(1995)
Ann. Neurol.
, vol.38
, pp. 85-91
-
-
Shiang, R.1
Ryan, S.G.2
Zhen, Z.R.3
-
29
-
-
0029414677
-
Involvement of glycine and GABAA receptors in the pathogenesis of spinal myoclonus: In vitro studies in the isolated neonatal rodent spinal cord
-
Simon, E.S. (1995) Involvement of glycine and GABAA receptors in the pathogenesis of spinal myoclonus: In vitro studies in the isolated neonatal rodent spinal cord. Neurology, 45: 1883-1892.
-
(1995)
Neurology
, vol.45
, pp. 1883-1892
-
-
Simon, E.S.1
-
30
-
-
0026638939
-
Vigabatrin for startle disease with altered cerebrospinal-fluid free gamma-aminoabutyric acid
-
Stephenson, J.B.P. (1992) Vigabatrin for startle disease with altered cerebrospinal-fluid free gamma-aminoabutyric acid. Lancet, 340: 430-431.
-
(1992)
Lancet
, vol.340
, pp. 430-431
-
-
Stephenson, J.B.P.1
-
31
-
-
0000069083
-
Hyperekplexia, a hereditary startle syndrome
-
Suhren, O., Bruyn, G.W. and Tuynman, A. (1966) Hyperekplexia, a hereditary startle syndrome. J. Neurol. Sci., 3: 577-605.
-
(1966)
J. Neurol. Sci.
, vol.3
, pp. 577-605
-
-
Suhren, O.1
Bruyn, G.W.2
Tuynman, A.3
-
32
-
-
0029016226
-
Molecular genetic reevaluation of the Dutch hyperekplexia family
-
Tijssen, M.A.J., Shiang, R., Deutekom, J. van, et al. (1995) Molecular genetic reevaluation of the Dutch hyperekplexia family. Arch. Neurol., 52: 578-582.
-
(1995)
Arch. Neurol.
, vol.52
, pp. 578-582
-
-
Tijssen, M.A.J.1
Shiang, R.2
Van Deutekom, J.3
-
33
-
-
0029900087
-
The startle pattern in the minor form of hyperekplexia
-
Tijssen, M.A.J., Padberg, G.W., van Dijk, J.G. (1996) The startle pattern in the minor form of hyperekplexia. Arch. Neurol., 53: 608-613.
-
(1996)
Arch. Neurol.
, vol.53
, pp. 608-613
-
-
Tijssen, M.A.J.1
Padberg, G.W.2
Van Dijk, J.G.3
|