Abstract
Advances in genetic analysis are fundamentally changing our understanding of the causes of epilepsy, and promise to add more precision to diagnosis and management of the clinical disorder. Single gene mutations that appear among more complex patterns of genomic variation can now be readily defined. As each mutation is identified, its predicted effects can now be validated in neurons derived from the patient's own stem cells, allowing a more precise understanding of the cellular defect. Parallel breakthroughs in genetic engineering now allow the creation of developmental experimental models bearing mutations identical to the human disorder. These models enable investigators to carry out detailed exploration of the downstream effects of the defective gene on the developing nervous system, and a framework for pursuing new therapeutic target discovery. Once these genetic strategies are combined with interdisciplinary technological advances in bioinformatics, imaging, and drug development, the promise of delivering clinical cures for some genetic epilepsies will be within our reach.
| Original language | English |
|---|---|
| Title of host publication | Advances in Experimental Medicine and Biology |
| Pages | 309-317 |
| Number of pages | 9 |
| Volume | 813 |
| DOIs | |
| Publication status | Published - 2014 |
Publication series
| Name | Advances in Experimental Medicine and Biology |
|---|---|
| Volume | 813 |
| ISSN (Print) | 00652598 |
| ISSN (Electronic) | 22148019 |
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ASJC Scopus subject areas
- Medicine(all)
- Biochemistry, Genetics and Molecular Biology(all)
Cite this
How can advances in epilepsy genetics lead to better treatments and cures? / Guerrini, Renzo; Noebels, Jeffrey.
Advances in Experimental Medicine and Biology. Vol. 813 2014. p. 309-317 (Advances in Experimental Medicine and Biology; Vol. 813).Research output: Chapter in Book/Report/Conference proceeding › Chapter
}
TY - CHAP
T1 - How can advances in epilepsy genetics lead to better treatments and cures?
AU - Guerrini, Renzo
AU - Noebels, Jeffrey
PY - 2014
Y1 - 2014
N2 - Advances in genetic analysis are fundamentally changing our understanding of the causes of epilepsy, and promise to add more precision to diagnosis and management of the clinical disorder. Single gene mutations that appear among more complex patterns of genomic variation can now be readily defined. As each mutation is identified, its predicted effects can now be validated in neurons derived from the patient's own stem cells, allowing a more precise understanding of the cellular defect. Parallel breakthroughs in genetic engineering now allow the creation of developmental experimental models bearing mutations identical to the human disorder. These models enable investigators to carry out detailed exploration of the downstream effects of the defective gene on the developing nervous system, and a framework for pursuing new therapeutic target discovery. Once these genetic strategies are combined with interdisciplinary technological advances in bioinformatics, imaging, and drug development, the promise of delivering clinical cures for some genetic epilepsies will be within our reach.
AB - Advances in genetic analysis are fundamentally changing our understanding of the causes of epilepsy, and promise to add more precision to diagnosis and management of the clinical disorder. Single gene mutations that appear among more complex patterns of genomic variation can now be readily defined. As each mutation is identified, its predicted effects can now be validated in neurons derived from the patient's own stem cells, allowing a more precise understanding of the cellular defect. Parallel breakthroughs in genetic engineering now allow the creation of developmental experimental models bearing mutations identical to the human disorder. These models enable investigators to carry out detailed exploration of the downstream effects of the defective gene on the developing nervous system, and a framework for pursuing new therapeutic target discovery. Once these genetic strategies are combined with interdisciplinary technological advances in bioinformatics, imaging, and drug development, the promise of delivering clinical cures for some genetic epilepsies will be within our reach.
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UR - http://www.scopus.com/inward/citedby.url?scp=84906902098&partnerID=8YFLogxK
U2 - 10.1007/978-94-017-8914-1-25
DO - 10.1007/978-94-017-8914-1-25
M3 - Chapter
C2 - 25012387
SN - 9789401789134
VL - 813
T3 - Advances in Experimental Medicine and Biology
SP - 309
EP - 317
BT - Advances in Experimental Medicine and Biology
ER -