Recent developments in the quest for myoclonic epilepsy genes

Delgado-Escueta, Antonio V. ; Perez-Gosiengfiao, Katerina B. ; Bai, Dongsheng ; Bailey, Julia ; Medina, Marco T. ; Morita, Ryoji ; Suzuki, Toshimitsu ; Ganesh, Subramaniam ; Sugimoto, Toshihisa ; Yamakawa, Kazuhiro ; Ochoa, Adriana ; Jara-Prado, A. ; Rasmussen, Astrid ; Ramos-Peek, J. ; Cordova, Sergio ; Rubio-Donnadieu, Francisco ; Alonso, Maria Elisa (2003) Recent developments in the quest for myoclonic epilepsy genes Epilepsia, 44 (11). pp. 13-26. ISSN 0013-9580

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Summary: Understanding the latest advances in the molecular genetics of the epilepsies is important, as it provides a basis for comprehending the new practice of epileptology. Epilepsies have traditionally been classified and subtyped on the basis of clinical and neurophysiologic concepts. However, the complexity and variability of phenotypes and overlapping clinical features limit the resolution of phenotype-based classification and confound epilepsy nosology. Identification of tightly linked epilepsy DNA markers and discovery of epilepsy-causing mutations provide a basis for refining the classification of epilepsies. Recent discoveries regarding the genetics surrounding certain epilepsy types (including Lafora's progressive myoclonic epilepsy, the severe myoclonic epilepsy of infancy of Dravet, and idiopathic generalized epilepsies) may be the beginning of a better understanding of how rare Mendelian epilepsy genes and their genetic architecture can explain some complexities of the common epilepsies.

Item Type:Article
Source:Copyright of this article belongs to Wiley.
Keywords:Epilepsy; Myoclonus; Genetics
ID Code:102815
Deposited On:01 Feb 2017 17:20
Last Modified:01 Feb 2017 17:20

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