Cortical myoclonus in Angelman syndrome

Annals of Neurology

Volumn 40, Issue 1, 1996, Pages 39-48

  Guerrini, Renzo ^a,f   De Lorey, Timothy M ^b   Bonanni, Paolo ^a   Monda, Anne ^c   Dravet, Charlotte ^d   Suisse, Georges ^e   Livet, Marie Odile ^d   Bureau, Michelle ^d   Malzac, Perrine ^c   Genton, Pierre ^d   Thomas, Pierre ^e   Sartucci, Ferdinando ^f   Simi, Paolo ^f   Serratosa, José M ^b  

^a DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c TIMONE HOSPITAL   (France)

^d CENTRE SAINT PAUL   (France)

^e PASTEUR HOSPITAL   (France)

^f UNIVERSITY OF PISA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; PIRACETAM;

ADOLESCENT; ADULT; ARTICLE; ATAXIA; CHILD; CHROMOSOME 15Q; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAPHY; EVOKED MUSCLE RESPONSE; FEMALE; HAPPY PUPPET SYNDROME; HUMAN; INFANT; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MOTOR DYSFUNCTION; MYOCLONUS; MYOCLONUS SEIZURE; PHENOTYPE; PRIORITY JOURNAL; RECEPTOR GENE; SPREADING CORTICAL DEPRESSION; TREMOR;

ADOLESCENT; ADULT; ANGELMAN SYNDROME; ANTICONVULSANTS; CEREBRAL CORTEX; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 15; ELECTROENCEPHALOGRAPHY; EVOKED POTENTIALS, MOTOR; EVOKED POTENTIALS, SOMATOSENSORY; FEMALE; GENE DELETION; HAPLOTYPES; HUMANS; MALE; MYOCLONUS; PHENOTYPE; PIRACETAM; POLYMERASE CHAIN REACTION; RECEPTORS, GABA;

EID: 8944228923     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410400109     Document Type: Article

References (52)

1. Angelman H. "Puppet" children: a report on three cases. Dev Med Child Neurol 1965;7:681-683
2. Kaplan LC, Wharton R, Elias E, et al. Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance. Am J Med Genet 1987;28:45-53
3. Magenis RE, Brown MG, Lacy DA, et al. Is Angelman syndrome an alternate result of del (15)(q11-q13)? Am J Med Genet 1987;28:829-838
4. Malcolm S, Clayton-Smith J, Nicholls M, et al. Uniparental paternal disomy in Angelman's syndrome. Lancet 1991;337: 694-697
5. Bower BD, Jeavons PM. The "happy puppet" syndrome. Arch Dis Child 1967;42:298-302
6. Clayton-Smith J. Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals. Am J Med Genet 1993;46:12-15
7. Zori RT, Hendrickson J, Woolven S, et al. Angelman syndrome: clinical profile. J Child Neurol 1992;7:270-280
8. Matsumoto A, Kumagai T, Miura K, et al. Epilepsy in Angelman syndrome associated with chromosome 15q deletion. Epilepsia 1992;33:1083-1090
9. Clayton-Smith J. Angelman's syndrome. Arch Dis Child 1992; 67:889-891
10. Saitoh S, Harada N, Jinno Y, et al. Molecular and clinical study of 61 Angelman syndrome patients. Am J Med Genet 1994;52:158-163
11. Robinson WP, Wagstaff J, Bernasconi F, et al. Uniparental disomy explains the occurrence of the Angelman or PraderWilli syndrome in patients with an additional small inv dup(15) chromosome. J Med Genet 1993;30:756-760
12. Yunis JJ. High resolution of human chromosomes. Science 1976;191:1268-1270
13. Dittrich B, Robinson WP, Knoblauch H, et al. Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parem-of-origin specific DNA methylation in 15q11-13-specific markers. Am J Hum Genet 1992;90:313-315
14. Gyapay G, Morisette J, Seeburg PH, et al. The 1993-1994 Généthon human genetic linkage map. Nature Genet 1994;7: 246-339
15. Malcolm S, Donlon TA. Report of the second international workshop on human chromosome 15 mapping 1994. Cytogenet Cell Genet 1994;67:1-22
16. Eyre JA, Miller S, Ramesh V. Constancy of central conduction delays during development in man: investigation of motor and somatosensory pathways. J Physiol 1991;434:441-452
17. Truong DD, Fahn S. Therapeutic trial with glycine in myoclonus. Mov Disord 1988;3:222-232
18. Brown P, Steiger PD, Thompson JC, et al. Effectiveness of piracetam in cortical myoclonus. Mov Disord 1993;8:63-68
19. Brown P, Day BL, Rothwell JC, et al. Intrahemispheric and interhemispheric spread of cerebral cortical myoclonic activity and its relevance to epilepsy. Brain 1991;114:2333-2351
20. Wilkins DE, Hallett M, Erba G. Primary generalised epileptic myoclonus: a frequent manifestation of minipolymyoclonus of central origin. J Neurol Neurosurg Psychiatry 1985;48:506-516
21. Kelly JJ, Shorbrough FW, Westmorland BF. Movement-activated central fast rhythms: an EEG finding in action myoclonus. Neurology 1978;28:1037-1040
22. Shibasaki H, Kuroiwa Y. Electroencephalographic correlates of myoclonus. Electroencephalogr Clin Neurophysiol 1975;39: 455-463
23. Guerrini R, Dravet C, Genton P, et al. Epileptic negative myoclonus. Neurology 1993;43:1078-1983
24. Ikeda A, Kakigi R, Funai N, et al. Cortical tremor: a variant of cortical reflex myoclonus. Neurology 1990;40:1561-1565
25. Toro C, Pascual-Leone A, Deuschl G, et al. Cortical tremor: a common manifestation of cortical myoclonus. Neurology 1993;43:2346-2353
26. Hallett M, Chadwick D, Marsden CD. Cortical reflex myoclonus. Neurology 1979;29:1107-1125
27. Obeso J, Rothwell JC, Marsden CD. The spectrum of cortical myoclonus: from focal reflex jerks to spontaneous motor epilepsy. Brain 1985;108:193-224
28. Rothwell JC, Brown P. The spread of myoclonic activity through sensorimotor cortex in cortical reflex myoclonus. In: Fahn S, Hallett M, Lüders HO, Marsden CD, eds. Negative motor phenomena. Advances in neurology, vol 67. New York: Raven Press, 1995:143-155
29. Obeso JA, Artieda J, Luquin MR, et al. Antimyoclonic action of piracetam. Clin Neuropharmacol 1986;9:58-64
30. Barrett G. Jerk-locked averaging: technique and application. J Clin Neurophysiol 1992;9:495-508
31. Marsden CD, Hallett M, Fahan S. The nosology and pathophysiology of myoclonus. In: Marsden CD, Hallett M, Fahan S, eds. Movement disorders. London: Butterworths Scientific, 1982:196-249
32. Shibasaki H, Yamashita Y, Ryuji N, et al. Pathogenesis of giant somatosensory evoked potentials in progressive myoclonic epilepsy. Brain 1985;108:225-240
33. Uozumi T, Yoichi I, Tsuji S, Murai Y. Inhibitory period following motor potentials evoked by magnetic cortical stimulation. Electroencephalogr Clin Neurophysiol 1992;85:273-279
34. Jay V, Becker LE, Chan F-W, Perry TL. Puppet-like syndrome of Angelman: a pathologic and neurochemical study. Neurology 1991;41:416-422
35. A receptor subunit genes is deleted in a neurological mutant of the mouse p locus. Nature 1993;364:448-450
36. Lyon MF, King TR, Gondo Y, et al. Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse. Proc Natl Acad Sci USA 1992;89:6968-6972
37. Connors BW, Gutnick MJ, Prince DA. Electrophysiological properties of neocortical neurons in vitro. J Neurophysiol 1982;48:1302-1320
38. Connors BW, Gutnick MJ. Cellular mechanism of neocortical epileptogenesis in an acute experimental model. In: Schwartzkroin PA, Wheal HV, eds. Electrophysiology of epilepsy. London: Academic Press, 1984:79-105
39. Schwartzkroin PA, Wyler AR. Mechanisms underlying epilepti-form burst discharge. Ann Neurol 1980;7:95-107
40. Pedley TA, Horton RW, Meldrum BS. Electroencephalographic and behavioral effects of a GABA agonist (muscimol) in the photosensitive epilepsy in the baboon, papio papio. Epilepsia 1979;10:409-416
41. Hernandez TD, Heninger C, Wilson MA, et al. Relationship of agonist efficacy to changes in GABA sensitivity and anticonvulsant tolerance following chronic benzodiazepine ligand exposure. Eur J Pharmacol 1989;170:145-155
42. Enna SJ, Ferkany JW, Van Woert M, Butler IJ. Measurement of GABA in biological fluids: effect of GABA transaminase inhibitors. In: Chase TN, Wexler NS, Barbeau A, eds. Huntington's chorea. Advances in neurology, vol 23. New York: Raven Press, 1979:741-750
43. Airaksinen EM, Leino E. Decrease of GABA in the cerebrospinal fluid of patients with progressive myoclonus epilepsy and its correlation with the decrease of 5HIAA and HVA. Acta Neurol Scand 1982;66:666-672
44. Nicholls RD. Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review. Am J Med Genet 1993;46:16-25
45. A receptor B3 subunit to the Angelman/Prader-Willi region of human chromosome 15. Am J Hum Genet 1991;49:330-337
46. Knoll JHM, Sinnett D, Wagstaff J, et al. FISH ordering of reference markers and of the gene for the α5 subunit of the γ-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions. Hum Mol Genet 1993;2:183-189
47. Buxton JL, Chan CJ, Gilbert H, et al. Angelman syndrome associated with a maternal 15q11-13 deletion of less than 200 Kb. Hum Mol Gen 1994;3:1409-1413
48. A-receptor beta 3 subunit gene as the Angelman's syndrome gene. Lancet 1993;341:122-123
49. Sinnett D, Wagstaff J, Glatt K, et al. High-resolution mapping of the gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patients. Am J Med Genet 1993;52:1216-1229
50. Marescaux C, Micheletti G, Vergnes M, et al. Diazepam antagonizes GABAmimetics in rats with spontaneous petit mal-like epilepsy. Eur J Pharmacol 1985;113:19-24
51. Kälväinen N, Mervaala E, Sivenius J, Riekkinen PJ. Vigabatrin. Clinical use. In: Levy RH, Mattson RH, Meldrum BS, eds. Antiepileptic drugs. 4th ed. New York: Raven Press, 1995: 925-930
52. Østergaard LH, Gram L, Dam M. Potential antiepileptic drugs. Tiagabine. In: Levy RH, Mattson RH, Meldrum BS, eds. Antiepileptic drugs. 4th ed. New York: Raven Press, 1995: 1057-1061