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Recent Developments in the Quest for Myoclonic Epilepsy Genes
Author(s) -
DelgadoEscueta Antonio V.,
PerezGosiengfiao Katerina B.,
Bai Dongsheng,
Bailey Julia,
Medina Marco T.,
Morita Ryoji,
Suzuki Toshimitsu,
Ganesh Subramaniam,
Sugimoto Toshihisa,
Yamakawa Kazuhiro,
Ochoa Adriana,
JaraPrado A.,
Rasmussen Astrid,
RamosPeek J.,
Cordova Sergio,
RubioDonnadieu Francisco,
Alonso Maria Elisa
Publication year - 2003
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1046/j.1528-1157.44.s11.2.x
Subject(s) - epilepsy , dravet syndrome , myoclonic epilepsy , neuroscience , epilepsy syndromes , progressive myoclonus epilepsy , nosology , mendelian inheritance , phenotype , psychology , medicine , genetics , psychiatry , biology , gene
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.