Recent developments in the quest for myoclonic epilepsy genes.
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.
Delgado-Escueta
Antonio V
AV
Epilepsy Genetics/Genomics Laboratory, Comprehensive Epilepsy Program, UCLA School of Medicine and VA GLAHS Epilepsy Center of Excellence, Los Angeles, California, U.S.A. escueta@ucla.edu
Perez-Gosiengfiao
Katerina B
KB
Bai
Dongsheng
D
Bailey
Julia
J
Medina
Marco T
MT
Morita
Ryoji
R
Suzuki
Toshimitsu
T
Ganesh
Subramaniam
S
Sugimoto
Toshihisa
T
Yamakawa
Kazuhiro
K
Ochoa
Adriana
A
Jara-Prado
A
A
Rasmussen
Astrid
A
Ramos-Peek
J
J
Cordova
Sergio
S
Rubio-Donnadieu
Francisco
F
Alonso
Maria Elisa
ME
D004831:Epilepsies, Myoclonic / Q000145:classification / Q000235:genetics*; D006801:Humans