Paroxysmal movement disorders in severe myoclonic epilepsy in infancy

Brain and Development

Volumn 25, Issue 6, 2003, Pages 401-405

  Ohtsuka, Yoko ^a   Ohmori, Iori ^a   Ogino, Tatsuya ^a   Ouchida, Mamoru ^a   Shimizu, Kenji ^a   Oka, Eiji ^a  

^a OKAYAMA UNIVERSITY   (Japan)

Author keywords

Antiepileptic drug; Paroxysmal movement disorder; Phenytoin; SCN1A mutation; Severe myoclonic epilepsy in infancy; Sodium channel

Indexed keywords

CARBAMAZEPINE; DIAZEPAM; PHENYTOIN; POTASSIUM BROMIDE; PRIMIDONE; SODIUM CHANNEL; VALPROIC ACID; VIGABATRIN;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHOREOATHETOSIS; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE PREDISPOSITION; DISEASE SEVERITY; DYSTONIA; ELECTROENCEPHALOGRAPHY; FEMALE; FOLLOW UP; GENE MUTATION; HEMIBALLISM; HUMAN; INFANT; MALE; MOLECULAR GENETICS; MOTOR DYSFUNCTION; MYOCLONUS EPILEPSY; REDUCTION;

EID: 0043168129     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(03)00025-1     Document Type: Article

References (19)

1. Dravet C., Bureau M., Guerrini R., Giraud N., Roger J. Severe myoclonic epilepsy in infants. Roger J., Bureau M., Dravet C., Dreifuss F.E., Perret A., Wolf P. Epileptic syndromes in infancy, childhood and adolescence. 2nd ed. 1992;75-88.
2. Higashi T., Morikawa T., Seino M. A group of childhood epilepsy accompanied by refractory grand mal. Folia Psychiatry Neurol Jpn. 38:1984;319-320.
3. Sugama M., Oguni H., Fukuyama Y. Clinical and electroencephalographic study of severe myoclonic epilepsy in infancy (Dravet). Jpn J Psychiatry Neurol. 41:1987;463-465.
4. Ogino T., Ohtsuka Y., Amano R., Yamatogi Y., Ohtahara S. An investigation on the borderland of severe myoclonic epilepsy in infancy. Jpn J Psychiatry Neurol. 42:1988;554-555.
5. Ogino T., Ohtsuka Y., Yamatogi Y., Oka E., Ohtahara S. The epileptic syndrome sharing common characteristics during early childhood with severe myoclonic epilepsy in infancy. Jpn J Psychiatry Neurol. 43:1989;479-481.
6. Claes L., Del-Favero J., Ceulemans B., Lagae L., Van Broeckhoven C., De Jonghe P. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet. 68:2001;1327-1332.
7. Sugawara T., Mazaki-Miyazaki E., Fukushima K., Shimomura J., Fujiwara T., Hamano S., et al. Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology. 58:2002;1122-1124.
8. Ohmori I., Ouchida M., Ohtsuka Y., Oka E., Shimizu K. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. BBRC. 295:2002;17-23.
9. Saito Y., Oguni H., Awaya Y., Hayashi K., Osawa M. Phenytoin-induced choreoathetosis in patients with severe myoclonic epilepsy in infancy. Neuropediatrics. 32:2001;231-235.
10. Tsuchiya S., Sakamoto T., Ishida S., Shirao I., Motooka H., Nakazawa Y. A case of refractory epilepsy with inexplicable involuntary body movement and hyperammonemia during treatment. J Jpn Epil Soc. 10:1992;130-137.
11. Chalhub E.G., Devivo D.C., Volpe J.J. Phenytoin-induced dystonia and choreoathetosis in two retarded epileptic children. Neurology. 26:1976;494-498.
12. Chadwick D., Reynolds E.H., Marsden C.D. Anticonvulsant-induced dyskinesias: a comparison with dyskinesias induced neuroleptics. J Neurol Neurosurg Psychiatry. 39:1976;1210-1218.
13. Corey A., Koller W. Phenytoin-induced dystonia. Ann Neurol. 14:1983;92-93.
14. Szepetowski P., Rochette J., Berquin P., Piussan C., Lathrop G.M., Monaco A.P. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet. 61:1997;889-898.
15. Swoboda K.J., Soong B.W., McKenna C., Brunt E.R.P., Litt M., Bale J.F. Jr., et al. Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology. 55:2000;224-230.
16. + channel α-subunit polypeptides exhibit distinct spatial and temporal patterning, and association with auxiliary subunits in rat brain. J Comp Neurol. 412:1999;342-352.
17. Kwan P., Sills G.J., Brodie M.J. The mechanisms of action of commonly used antiepileptic drugs. Pharmacol Ther. 90:2001;21-34.
18. Alexander G.E., Crutcher M.D. Functional architecture of basal ganglia circuits: neural substrates of parallel processing. Trends Neurosci. 13:1990;266-271.
19. DeLong M.R. Primate models of movement disorders of basal ganglia origin. Trends Neurosci. 13:1990;281-285.