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2014 ; 11
(2
): 269-85
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Genetic epilepsy syndromes without structural brain abnormalities: clinical
features and experimental models
#MMPMID24664660
Guerrini R
; Marini C
; Mantegazza M
Neurotherapeutics
2014[Apr]; 11
(2
): 269-85
PMID24664660
show ga
Research in genetics of epilepsy represents an area of great interest both for
clinical purposes and for understanding the basic mechanisms of epilepsy. Most
mutations in epilepsies without structural brain abnormalities have been
identified in ion channel genes, but an increasing number of genes involved in a
diversity of functional and developmental processes are being recognized through
whole exome or genome sequencing. Targeted molecular diagnosis is now available
for different forms of epilepsy. The identification of epileptogenic mutations in
patients before epilepsy onset and the possibility of developing therapeutic
strategies tested in experimental models may facilitate experimental approaches
that prevent epilepsy or decrease its severity. Functional analysis is essential
for better understanding pathogenic mechanisms and gene interactions. In vitro
experimental systems are either cells that usually do not express the protein of
interest or neurons in primary cultures. In vivo/ex vivo systems are organisms or
preparations obtained from them (e.g., brain slices), which should better model
the complexity of brain circuits and actual pathophysiological conditions.
Neurons differentiated from induced pluripotent stem cells generated from the
skin fibroblasts of patients have recently allowed the study of mutations in
human neurons having the genetic background of a given patient. However, there is
remarkable complexity underlying epileptogenesis in the clinical dimension, as
reflected by the fact that experimental models have not provided yet results
having clinical translation and that, with a few exceptions concerning rare
conditions, no new curative treatment has emerged from any genetic finding in
epilepsy.
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