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Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy).
J Clin Neurophysiol. 2003 Nov-Dec; 20(6):449-61.JC

Abstract

Myoclonic attacks are not characteristic of a specific syndrome. In infancy and early childhood, they are often observed in the context of syndromes that are associated with other types of seizures and with cognitive impairment but no obvious brain lesion. Characterization of the associated seizures and age of expression allows inclusion of a number of cases in two main subgroups: severe myoclonic epilepsy (SME, or Dravet syndrome) and myoclonic-astatic epilepsy (MAE). Severe myoclonic epilepsy is an epileptic encephalopathy with invariably poor outcome in which myoclonic seizures, though frequently observed, may be absent altogether in some children. Prolonged and repeated febrile and afebrile convulsive seizures starting in infancy are the main feature and are probably causally related to cognitive decline. One third of children harbor mutation of the SCN1A gene, but the genetics of SME is probably more complex than expected with simple monogenic disorders. Treatment is usually disappointing. Myoclonic-astatic epilepsy is perhaps more a conceptual category of idiopathic myoclonic epilepsy than a discrete syndrome. Childhood-onset myoclonic-astatic attacks are the characteristic seizures associated in most with episodes of nonconvulsive status and generalized tonic-clonic seizures. Outcome is unpredictable. Either remission within a few years with normal cognition or long-lasting intractability with cognitive impairment is possible. Likewise, the effectiveness of antiepileptic drugs is variable. A number of cases of myoclonic epilepsies in infancy and early childhood, however, remain unclassified, and intermediate forms between the different syndromes exist. They must be distinguished from other syndromes with frequent brief attacks and repeated falls, especially the Lennox-Gastaut syndrome. This differentiation is often difficult and may require extensive neurophysiologic studies.

Authors+Show Affiliations

Division of Child Neurology and Psychiatry, University of Pisa and IRCCS Fondazione Stella Maris, via dei Giacinti 2, 56018 Calambrone, Pisa, Italy. renzo.guerrini@inpe.unipi.itNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

14734934

Citation

Guerrini, Renzo, and Jean Aicardi. "Epileptic Encephalopathies With Myoclonic Seizures in Infants and Children (severe Myoclonic Epilepsy and Myoclonic-astatic Epilepsy)." Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society, vol. 20, no. 6, 2003, pp. 449-61.
Guerrini R, Aicardi J. Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy). J Clin Neurophysiol. 2003;20(6):449-61.
Guerrini, R., & Aicardi, J. (2003). Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy). Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society, 20(6), 449-61.
Guerrini R, Aicardi J. Epileptic Encephalopathies With Myoclonic Seizures in Infants and Children (severe Myoclonic Epilepsy and Myoclonic-astatic Epilepsy). J Clin Neurophysiol. 2003 Nov-Dec;20(6):449-61. PubMed PMID: 14734934.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy). AU - Guerrini,Renzo, AU - Aicardi,Jean, PY - 2004/1/22/pubmed PY - 2004/3/17/medline PY - 2004/1/22/entrez SP - 449 EP - 61 JF - Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society JO - J Clin Neurophysiol VL - 20 IS - 6 N2 - Myoclonic attacks are not characteristic of a specific syndrome. In infancy and early childhood, they are often observed in the context of syndromes that are associated with other types of seizures and with cognitive impairment but no obvious brain lesion. Characterization of the associated seizures and age of expression allows inclusion of a number of cases in two main subgroups: severe myoclonic epilepsy (SME, or Dravet syndrome) and myoclonic-astatic epilepsy (MAE). Severe myoclonic epilepsy is an epileptic encephalopathy with invariably poor outcome in which myoclonic seizures, though frequently observed, may be absent altogether in some children. Prolonged and repeated febrile and afebrile convulsive seizures starting in infancy are the main feature and are probably causally related to cognitive decline. One third of children harbor mutation of the SCN1A gene, but the genetics of SME is probably more complex than expected with simple monogenic disorders. Treatment is usually disappointing. Myoclonic-astatic epilepsy is perhaps more a conceptual category of idiopathic myoclonic epilepsy than a discrete syndrome. Childhood-onset myoclonic-astatic attacks are the characteristic seizures associated in most with episodes of nonconvulsive status and generalized tonic-clonic seizures. Outcome is unpredictable. Either remission within a few years with normal cognition or long-lasting intractability with cognitive impairment is possible. Likewise, the effectiveness of antiepileptic drugs is variable. A number of cases of myoclonic epilepsies in infancy and early childhood, however, remain unclassified, and intermediate forms between the different syndromes exist. They must be distinguished from other syndromes with frequent brief attacks and repeated falls, especially the Lennox-Gastaut syndrome. This differentiation is often difficult and may require extensive neurophysiologic studies. SN - 0736-0258 UR - https://www.unboundmedicine.com/medline/citation/14734934/Epileptic_encephalopathies_with_myoclonic_seizures_in_infants_and_children__severe_myoclonic_epilepsy_and_myoclonic_astatic_epilepsy__ L2 - http://dx.doi.org/10.1097/00004691-200311000-00007 DB - PRIME DP - Unbound Medicine ER -