Startle syndromes

1989 Brown, 1991, The hyperekplexias and their relationship to the normal startle reflex, Brain, 114, 1903, 10.1093/brain/114.4.1903 Kofler, 2001, The auditory startle reaction in parkinsonian disorders, Mov Disord, 16, 62, 10.1002/1531-8257(200101)16:1<62::AID-MDS1002>3.0.CO;2-V Wilkins, 1986, Audiogenic startle reflex of man and its relationship to startle syndromes: a review, Brain, 109, 561, 10.1093/brain/109.3.561 Brown, 1991, New observations on the normal auditory startle reflex in man, Brain, 114, 1891, 10.1093/brain/114.4.1891 Brown, 1991, The effect of posture on the normal and pathological auditory startle reflex, J Neurol Neurosurg Psychiatr, 54, 892, 10.1136/jnnp.54.10.892 Jacobson, 1929, Response to a sudden unexpected stimulus, J Exp Psychol, 9, 19, 10.1037/h0072591 Landis, 1939 Leitner, 1980, The neural substrate of the startle response, Physiol Behav, 25, 291, 10.1016/0031-9384(80)90219-X Davis, 1982, A primary acoustic startle circuit: lesion and stimulation studies, J Neurosci, 2, 791, 10.1523/JNEUROSCI.02-06-00791.1982 Grillon, 2003, A review of the modulation of the startle reflex by affective states and its application in psychiatry, Clin Neurophysiol, 114, 1557, 10.1016/S1388-2457(03)00202-5 Chokroverty, 1992, Human startle reflex: technique and criteria for abnormal response, Electroencephalogr Clin Neurophysiol, 85, 236, 10.1016/0168-5597(92)90111-N Suhren, 1966, Hyperexplexia, a hereditary startle syndrome, J Neurol Sci, 3, 577, 10.1016/0022-510X(66)90047-5 Koch, 1999, The neurobiology of startle, Prog Neurobiol, 59, 107, 10.1016/S0301-0082(98)00098-7 Kofler, 2001, Influence of age on auditory startle responses in humans, Neurosci Lett, 307, 65, 10.1016/S0304-3940(01)01908-5 Oguro, 2005, Trigeminally induced startle in children with hyperekplexia, Mov Disord, 20, 484, 10.1002/mds.20333 Valls-Sole, 1995, Reaction time and acoustic startle in normal human subjects, Neurosci Lett, 195, 97, 10.1016/0304-3940(94)11790-P Carlsen, 2004, Prepared movements are elicited early by startle, J Mot Behav, 36, 253, 10.3200/JMBR.36.3.253-264 Matsumoto, 1992, Physiological abnormalities in hereditary hyperekplexia, Ann Neurol, 32, 41, 10.1002/ana.410320108 Lang, 1990, Emotion, attention, and the startle reflex, Psychol Rev, 97, 377, 10.1037/0033-295X.97.3.377 Ho, 1987, Neurologic, audiologic, and electrophysiologic sequelae of bilateral temporal lobe lesions, Arch Neurol, 44, 982, 10.1001/archneur.1987.00520210076024 Liegeois-Chauvel, 1989, Evidence for a contribution of the auditory cortex to audiospinal facilitation in man, Brain, 112, 375, 10.1093/brain/112.2.375 Shimamura, 1973, Neural mechanisms of the startle reflex in cerebral palsy, with special reference to its relationship with spino-bulbo-spinal reflexes, 761 Oguro, 2001, Different responses to auditory and somaesthetic stimulation in patients with an excessive startle: a report of pediatric experience, Clin Neurophysiol, 112, 1266, 10.1016/S1388-2457(01)00568-5 Voordecker, 1997, Audiogenic startle reflex in acute hemiplegia, Neurology, 49, 470, 10.1212/WNL.49.2.470 Angrilli, 1996, Startle reflex and emotion modulation impairment after a right amygdala lesion, Brain, 119, 1991, 10.1093/brain/119.6.1991 Vrana, 1988, The startle probe response: a new measure of emotion?, J Abnorm Psychol, 97, 487, 10.1037/0021-843X.97.4.487 Pavlov, 1927 Gogan, 1970, The startle and orienting reactions in man: a study of their characteristics and habituation, Brain Res, 18, 117, 10.1016/0006-8993(70)90460-9 Tijssen, 1995, Molecular genetic reevaluation of the Dutch hyperekplexia family, Arch Neurol, 52, 578, 10.1001/archneur.1995.00540300052012 Koning-Tijssen, 2000, Hyperekplexia in the first year of life, Mov Disord, 15, 1293, 10.1002/1531-8257(200011)15:6<1293::AID-MDS1047>3.0.CO;2-K Andermann, 1980, Startle disease or hyperekplexia: further delineation of the syndrome, Brain, 103, 985, 10.1093/brain/103.4.985 Saenz-Lope, 1984, Hyperekplexia: a syndrome of pathological startle responses, Ann Neurol, 15, 36, 10.1002/ana.410150107 Dooley, 1989, Startle disease or hyperekplexia: adolescent onset and response to valproate, Pediatr Neurol, 5, 126, 10.1016/0887-8994(89)90041-6 Hayashi, 1991, Hyperekplexia: pedigree studies in two families, Am J Med Genet, 40, 138, 10.1002/ajmg.1320400203 Pascotto, 1992, Neonatal hyperekplexia: a case report, Epilepsia, 33, 817, 10.1111/j.1528-1157.1992.tb02187.x Rees, 1994, 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, 3, 2175, 10.1093/hmg/3.12.2175 Del Giudice, 2001, A mutation (V260M) in the middle of the M2 pore-lining domain of the glycine receptor causes hereditary hyperekplexia, Eur J Hum Genet, 9, 873, 10.1038/sj.ejhg.5200729 Zhou, 2002, Hyperekplexia: a treatable neurogenetic disease, Brain Dev, 24, 669, 10.1016/S0387-7604(02)00095-5 Tsai, 2004, Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia family, Neurology, 63, 893, 10.1212/01.WNL.0000138566.65519.67 Gastaut, 1967, The startle disease or hyperekplexia. Pathological surprise reaction, J Neurol Sci, 5, 523, 10.1016/0022-510X(67)90090-1 Brune, 1996, A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors, Am J Hum Genet, 58, 989 Vergouwe, 1997, Hyperekplexia-like syndromes without mutations in the GLRA1 gene, Clin Neurol Neurosurg, 99, 172, 10.1016/S0303-8467(97)00022-X Sechi, 2000, Beneficial effect of fluoxetine in a case of sporadic hyperekplexia, Clin Neuropharmacol, 23, 161, 10.1097/00002826-200005000-00006 Rees, 2001, Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia, Hum Genet, 109, 267, 10.1007/s004390100569 Miraglia Del Giudice, 2003, A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia, J Med Genet, 40, e71, 10.1136/jmg.40.5.e71 Hamelin, 2004, Late onset hyperekplexia, Epileptic Disord, 6, 169 Khasani, 2004, Hyperekplexia and stiff-man syndrome: abnormal brainstem reflexes suggest a physiological relationship, J Neurol Neurosurg Psychiatr, 75, 1265, 10.1136/jnnp.2003.018135 Rivera, 2005, Congenital hyperekplexia: five sporadic cases, Eur J Pediatr, 7, 1 Fariello, 1983, Hyperekplexia exacerbated by occlusion of posterior thalamic arteries, Arch Neurol, 40, 244, 10.1001/archneur.1983.04050040074014 Duensing, 1952, Schreckreflex und schreckreaktion als hirnorganische zeichen, Arch Psychiatr Nervenkr, 188, 162, 10.1007/BF00352755 Ruprecht, 2002, Symptomatic hyperekplexia in a patient with multiple sclerosis, Neurology, 58, 503, 10.1212/WNL.58.3.503 Zhai, 2003, Primary lateral sclerosis: a heterogeneous disorder composed of different subtypes?, Neurology, 60, 1258, 10.1212/01.WNL.0000058900.02672.D2 Jankelowitz, 2004, The acoustic startle reflex in ischemic stroke, Neurology, 62, 114, 10.1212/01.WNL.0000101711.48946.35 Watson, 2002, Focal pathological startle following pontine infarction, Mov Disord, 17, 212, 10.1002/mds.10022 Shibasaki, 1988, Somatosensory and acoustic brain stem reflex myoclonus, J Neurol Neurosurg Psychiatr, 51, 572, 10.1136/jnnp.51.4.572 Kellett, 1998, Hyperekplexia and trismus due to brainstem encephalopathy, J Neurol Neurosurg Psychiatr, 65, 122, 10.1136/jnnp.65.1.122 Chaves-Vischer, 2000, Early fatal pontocerebellar hypoplasia in premature twin sisters, Eur J Paediatr Neurol, 4, 171, 10.1053/ejpn.2000.0295 Goraya, 2002, Hyperekplexia in a girl with posterior fossa malformations, J Child Neurol, 17, 147, 10.1177/088307380201700213 Salvi, 2000, Hypertension, hyperekplexia, and pyramidal paresis due to vascular compression of the medulla, Neurology, 55, 1381, 10.1212/WNL.55.9.1381 Kofler, 2003, Exaggerated auditory startle responses in multiple system atrophy: a comparative study of parkinson and cerebellar subtypes, Clin Neurophysiol, 114, 541, 10.1016/S1388-2457(02)00390-5 Gaitatzis, 2004, Frontal lobe dysfunction in sporadic hyperekplexia: case study and literature review, J Neurol, 251, 91, 10.1007/s00415-004-0288-4 Saul, 1999, Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating, J Neurosci, 19, 869, 10.1523/JNEUROSCI.19-03-00869.1999 Lingam, 1981, Hereditary stiff-baby syndrome, Am J Dis Child, 135, 909 Shahar, 1991, Nose tapping test inducing a generalized flexor spasm: a hallmark of hyperexplexia, Acta Paediatr Scand, 80, 1073, 10.1111/j.1651-2227.1991.tb11785.x Ryan, 1992, Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis, Ann Neurol, 31, 663, 10.1002/ana.410310615 Morley, 1982, Hyperexplexia: an inherited disorder of the startle response, Clin Genet, 21, 388, 10.1111/j.1399-0004.1982.tb01393.x Elmslie, 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, 10.1136/jmg.33.5.435 Kwok, 2001, Mutations in the glycine receptor alpha1 subunit (GLRA1) gene in hereditary hyperekplexia pedigrees: evidence for non-penetrance of mutation Y279C, J Med Genet, 38, E17, 10.1136/jmg.38.6.e17 Vergouwe, 1999, Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations, Ann Neurol, 46, 634, 10.1002/1531-8249(199910)46:4<634::AID-ANA12>3.0.CO;2-9 Coto, 2005, Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene, Mov Disord, 20, 1226, 10.1002/mds.20637 Bernasconi, 1998, Spectroscopic imaging of frontal neuronal dysfunction in hyperekplexia, Brain, 121, 1507, 10.1093/brain/121.8.1507 Tijssen, 2002, Major and minor form of hereditary hyperekplexia, Mov Disord, 17, 826, 10.1002/mds.10168 Milani, 1996, A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia, Am J Hum Genet, 58, 420 Bernasconi, 1996, [Familial hyperekplexia: startle disease. Clinical, electrophysiological and genetic study of a family], Rev Neurol (Paris), 152, 447 Schorderet, 1994, An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene, Hum Mol Genet, 3, 1201, 10.1093/hmg/3.7.1201 Vigevano, 1989, Startle disease: an avoidable cause of sudden infant death, Lancet, 1, 216, 10.1016/S0140-6736(89)91226-9 Shiang, 1995, Mutational analysis of familial and sporadic hyperekplexia, Ann Neurol, 38, 85, 10.1002/ana.410380115 Humeny, 2002, 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, 10, 188, 10.1038/sj.ejhg.5200779 Rees, 2002, Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB), Hum Mol Genet, 11, 853, 10.1093/hmg/11.7.853 Rees, 2003, Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia, J Biol Chem, 278, 24688, 10.1074/jbc.M301070200 Harvey, 2004, The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering, JNeurosci, 24, 5816, 10.1523/JNEUROSCI.1184-04.2004 Jungbluth, 2000, An unusual case of hyperekplexia, Eur J Paediatr Neurol, 4, 77, 10.1053/ejpn.1999.0267 Tijssen, 1997, The effects of clonazepam and vigabatrin in hyperekplexia, J Neurol Sci, 149, 63, 10.1016/S0022-510X(97)05378-1 Dumba, 1998, Electron microscopic analysis of gamma-aminobutyric acid and glycine colocalization in rat trigeminal subnucleus caudalis, Brain Res, 806, 16, 10.1016/S0006-8993(98)00688-X O'Shea, 2004, Propofol restores the function of “hyperekplexic” mutant glycine receptors in Xenopus oocytes and mice, J Neurosci, 24, 2322, 10.1523/JNEUROSCI.4675-03.2004 Shiang, 1993, Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia, Nat Genet, 5, 351, 10.1038/ng1293-351 Betz, 1999, Structure and functions of inhibitory and excitatory glycine receptors, Ann N Y Acad Sci, 868, 667, 10.1111/j.1749-6632.1999.tb11343.x Castaldo, 2004, A novel hyperekplexia-causing mutation in the pre-transmembrane segment 1 of the human glycine receptor alpha1 subunit reduces membrane expression and impairs gating by agonists, J Biol Chem, 279, 25598, 10.1074/jbc.M311021200 Breitinger, 2001, Opposing effects of molecular volume and charge at the hyperekplexia site alpha 1(P250) govern glycine receptor activation and desensitization, J Biol Chem, 276, 29657, 10.1074/jbc.M100446200 Rea, 2002, Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia, Eur J Neurosci, 16, 186, 10.1046/j.1460-9568.2002.02054.x Moorhouse, 1999, The startle disease mutation Q266H, in the second transmembrane domain of the human glycine receptor, impairs channel gating, Mol Pharmacol, 55, 386, 10.1124/mol.55.2.386 Lapunzina, 2003, Hyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorder, Mol Diagn, 7, 125 Laube, 1995, Hyperekplexia mutations of the glycine receptor unmask the inhibitory subsite for beta-amino-acids, Neuroreport, 6, 897, 10.1097/00001756-199504190-00018 Langosch, 1994, Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia, EMBOJ, 13, 4223, 10.1002/j.1460-2075.1994.tb06742.x Maksay, 2002, Hyperekplexia mutation of glycine receptors: decreased gating efficacy with altered binding thermodynamics, Biochem Pharmacol, 64, 285, 10.1016/S0006-2952(02)01111-5 Seri, 1997, Startle disease in an Italian family by mutation (K276E): the alpha-subunit of the inhibiting glycine receptor, Hum Mutat, 9, 185, 10.1002/(SICI)1098-1004(1997)9:2<185::AID-HUMU14>3.0.CO;2-Z Lewis, 1998, Properties of human glycine receptors containing the hyperekplexia mutation alpha1(K276E), expressed in Xenopus oocytes, J Physiol, 507, 25, 10.1111/j.1469-7793.1998.025bu.x Poon, 2006, Novel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia, Clin Chim Acta, 364, 361, 10.1016/j.cca.2005.09.018 Ryan, 1994, A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse, Nat Genet, 7, 131, 10.1038/ng0694-131 Saul, 1994, Point mutation of glycine receptor alpha 1 subunit in the spasmodic mouse affects agonist responses, FEBS Lett, 350, 71, 10.1016/0014-5793(94)00736-5 Kling, 1997, The frameshift mutation oscillator (Glra1(spd-ot)) produces a complete loss of glycine receptor alpha1-polypeptide in mouse central nervous system, Neuroscience, 78, 411, 10.1016/S0306-4522(96)00567-2 Buckwalter, 1994, A frameshift mutation in the mouse alpha 1 glycine receptor gene (Glra1) results in progressive neurological symptoms and juvenile death, Hum Mol Genet, 3, 2025, 10.1093/hmg/3.11.2025 Kingsmore, 1994, Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion, Nat Genet, 7, 136, 10.1038/ng0694-136 Mulhardt, 1994, The spastic mouse: aberrant splicing of glycine receptor beta subunit mRNA caused by intronic insertion of L1 element, Neuron, 13, 1003, 10.1016/0896-6273(94)90265-8 Pierce, 2001, A nonsense mutation in the alpha1 subunit of the inhibitory glycine receptor associated with bovine myoclonus, Mol Cell Neurosci, 17, 354, 10.1006/mcne.2000.0934 Plappert, 2001, Increased sensitization of acoustic startle response in spasmodic mice with a mutation of the glycine receptor alpha1-subunit gene, Behav Brain Res, 121, 57, 10.1016/S0166-4328(00)00385-5 Becker, 2000, Transient neuromotor phenotype in transgenic spastic mice expressing low levels of glycine receptor beta-subunit: an animal model of startle disease, Eur J Neurosci, 12, 27, 10.1046/j.1460-9568.2000.00877.x Becker, 2002, Disease-specific human glycine receptor alpha1 subunit causes hyperekplexia phenotype and impaired glycine- and GABA(A)-receptor transmission in transgenic mice, J Neurosci, 22, 2505, 10.1523/JNEUROSCI.22-07-02505.2002 Findlay, 2003, Glycine receptor knock-in mice and hyperekplexia-like phenotypes: comparisons with the null mutant, J Neurosci, 23, 8051, 10.1523/JNEUROSCI.23-22-08051.2003 Findlay, 2002, Transgenic expression of a mutant glycine receptor decreases alcohol sensitivity of mice, J Pharmacol Exp Ther, 300, 526, 10.1124/jpet.300.2.526 Tijssen, 1997, Startle responses in hereditary hyperekplexia, Arch Neurol, 54, 388, 10.1001/archneur.1997.00550160034012 Brown, 2002, Neurophysiology of the startle syndrome and hyperekplexia, Adv Neurol, 89, 153 Tijssen, 1995, Saccadic eye movements in hyperekplexia, Mov Disord, 10, 749, 10.1002/mds.870100608 Markand, 1984, Familial startle disease (hyperexplexia). Electrophysiologic studies, Arch Neurol, 41, 71, 10.1001/archneur.1984.04050130077028 Tijssen, 2003, Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene, Mov Disord, 18, 1538, 10.1002/mds.10613 Crone, 2001, Patients with the major and minor form of hyperekplexia differ with regards to disynaptic reciprocal inhibition between ankle flexor and extensor muscles, Exp Brain Res, 140, 190, 10.1007/s002210100808 Crone, 2004, Reciprocal inhibition and corticospinal transmission in the arm and leg in patients with autosomal dominant pure spastic paraparesis (ADPSP), Brain, 127, 2693, 10.1093/brain/awh319 Tijssen, 1996, The startle pattern in the minor form of hyperekplexia, Arch Neurol, 53, 608, 10.1001/archneur.1996.00550070046011 Brown, 2001, Electrophysiological aids to the diagnosis of psychogenic jerks, spasms, and tremor, Mov Disord, 16, 595, 10.1002/mds.1145 Thompson, 1992, Voluntary stimulus-sensitive jerks and jumps mimicking myoclonus or pathological startle syndromes, Mov Disord, 7, 257, 10.1002/mds.870070312 Siegelaar SE, Olff M, Bour LJ, Veelo D, Zwinderman AH, van Bruggen G. The auditory startle response in posttraumatic stress disorder. Exp Brain Res (in press). Saint-Hilaire, 1986, Jumping Frenchmen of Maine, Neurology, 36, 1269, 10.1212/WNL.36.9.1269 Simons, 1996 Saint-Hilaire, 2001, Jumping Frenchmen of Maine, Mov Disord, 16, 530, 10.1002/mds.1080 Tanner, 2001, Latah in Jakarta, Indonesia, Mov Disord, 16, 526, 10.1002/mds.1088 Gironell, 2000, Abnormalities of the acoustic startle reflex and reaction time in gilles de la tourette syndrome, Clin Neurophysiol, 111, 1366, 10.1016/S1388-2457(00)00343-6 Stell, 1995, The audiogenic startle response in Tourette's syndrome, Mov Disord, 10, 723, 10.1002/mds.870100605 Sachdev, 1997, The audiogenic startle reflex in Tourette's syndrome, Biol Psychiatry, 41, 796, 10.1016/S0006-3223(96)00101-1 Bartholomew, 1994, Disease, disorder, or deception? Latah as habit in a Malay extended family, J Nerv Ment Dis, 182, 331, 10.1097/00005053-199406000-00004 Gilles de la Tourette, 1885, Etude sur une affection nerveuse, charactérisée par l'incoordination motrice accompagnée de l'écholalie et de coprolalie (jumping, latah, myriachit), Arch Neurol, 9, 158 Tijssen, 1999, Late onset startle induced tics, J Neurol Neurosurg Psychiatr, 67, 782, 10.1136/jnnp.67.6.782 1994 Orr, 2002, Psychophysiology of post-traumatic stress disorder, Psychiatr Clin North Am, 25, 271, 10.1016/S0193-953X(01)00007-7 Saenz, 1984, Startle epilepsy: a clinical study, Ann Neurol, 16, 78, 10.1002/ana.410160115 Manford, 1996, Startle provoked epileptic seizures: features in 19 patients, J Neurol Neurosurg Psychiatry, 61, 151, 10.1136/jnnp.61.2.151 Goutieres, 1985, Atypical presentations of pyridoxine-dependent seizures: a treatable cause of intractable epilepsy in infants, Ann Neurol, 17, 117, 10.1002/ana.410170203 Aicardi, 1992 Hallett, 1979, Cortical reflex myoclonus, Neurology, 29, 1107, 10.1212/WNL.29.8.1107 Hallett, 1977, Reticular reflex myoclonus: a physiological type of human post-hypoxic myoclonus, J Neurol Neurosurg Psychiatr, 40, 253, 10.1136/jnnp.40.3.253 Brown, 1991, A case of postanoxic encephalopathy with cortical action and brainstem reticular reflex myoclonus, Mov Disord, 6, 139, 10.1002/mds.870060209 Brown, 1994, Propriospinal myoclonus: evidence for spinal “pattern” generators in humans, Mov Disord, 9, 571, 10.1002/mds.870090511 Matsumoto, 1994, The acoustic startle reflex in stiff-man syndrome, Neurology, 44, 1952, 10.1212/WNL.44.10.1952 Leigh, 1980, A patient with reflex myoclonus and muscle rigidity: “jerking stiff-man syndrome”, J Neurol Neurosurg Psychiatr, 43, 1125, 10.1136/jnnp.43.12.1125 Tohier, 1991, Hyperexplexia or stiff baby syndrome, Arch Dis Child, 66, 460, 10.1136/adc.66.4.460 Alfrey, 1979, Tetanus: a review, Crit Care Med, 7, 176, 10.1097/00003246-197904000-00007 Bhatia, 1999, The paroxysmal dyskinesias, J Neurol, 246, 149, 10.1007/s004150050325 Roth, 1984 Matthews, 1982 Labate, 2004, Startle epilepsy complicating aspartylglucosaminuria, Brain Dev, 26, 130, 10.1016/S0387-7604(03)00069-X Shibasaki, 2005, Electrophysiological studies of myoclonus, Muscle Nerve, 31, 157, 10.1002/mus.20234 Gordon, 1967, A critical survey of stiff-man syndrome, Am J Med, 42, 582, 10.1016/0002-9343(67)90057-5 Overeem, 2001, Narcolepsy: clinical features, new pathophysiologic insights, and future perspectives, J Clin Neurophysiol, 18, 78, 10.1097/00004691-200103000-00002 Lammers, 2000, Effects of startle and laughter in cataplectic subjects: a neurophysiological study between attacks, Clin Neurophysiol, 111, 1276, 10.1016/S1388-2457(00)00306-0