A genetically-engineered model of Epilepsy facilitates new insights into patient behavior

2.50
Hdl Handle:
http://hdl.handle.net/10755/308572
Category:
Abstract
Type:
Presentation
Title:
A genetically-engineered model of Epilepsy facilitates new insights into patient behavior
Author(s):
Helvig, Ashley W.; Sawyer, Nikki; Escayg, Andrew; Decker, Michael J.
Lead Author STTI Affiliation:
Non-member
Author Details:
Ashley W. Helvig, PhD, RN, CRNI, ashley.helvig@gmail.com; Nikki Sawyer, BS; Andrew Escayg, PhD; Michael J. Decker, PhD, RN, RRT, D.ABSM
Abstract:

Session presented on: Monday, November 18, 2013

A goal of nursing research is to build the scientific foundation for patient care (ninr.nih.gov).  Animal models of human diseases are becoming increasingly employed in nursing research to address gaps in the scientific evidence and understanding of clinical conditions. These models allow researchers unique opportunities to study potentially unrecognized problems and unexplored phenomenon.  Our research involves examining various aspects of epilepsy disorders associated with voltage-gated sodium channel dysfunction related to mutations within the SCN1A gene.  Genetic epilepsy with febrile seizures plus (GEFS+) is one of these epilepsy disorders and is  associated with a wide variety of symptom severity and age of onset (Escayg & Goldin, 2010) and may be associated with learning deficits, behavioral problems, and neuropsychiatric disorders (Mahoney et al., 2009).   Most human studies of GEFS+ involve examination of the various seizure and neurological phenotypes but rarely have these studies examined behavioral phenotypes.  Additionally, the impact of stress in this population is not reported.  Because of the paucity of data regarding behavior and stress in persons with GEFS+, our lab examined these variables in an animal model.  Animals used in the study were generated by knock-in of the human SCN1A R1648H missense mutation into the mouse Scn1a gene (Martin et al., 2010) which recapitulates the human condition of GEFS+.  With this model, we have characterized increased levels of locomotor activity that are unrelated to seizure activity.  We interpret this finding as preliminary evidence of sodium channel integrity as a factor contributing to symptoms of behavioral hyperactivity.  Our findings suggest that animal models of epilepsy may help to provide better insight into the outcomes and mechanisms contributing to behavioral phenotypes associated with this disorder.  By studying this animal model, we will now be able to concentrate efforts in our research with humans in areas we had not considered previously.
Keywords:
epilepsy; Animal Model; genetics
Repository Posting Date:
19-Dec-2013
Date of Publication:
19-Dec-2013
Conference Date:
2013
Conference Name:
42nd Biennial Convention
Conference Host:
Sigma Theta Tau International, the Honor Society of Nursing
Conference Location:
Indianapolis, Indiana, USA
Description:
42nd Biennial Convention 2013 Theme: Give Back to Move Forward. Held at the JW Marriott

Full metadata record

DC FieldValue Language
dc.language.isoen_USen_GB
dc.type.categoryAbstracten_GB
dc.typePresentationen_GB
dc.titleA genetically-engineered model of Epilepsy facilitates new insights into patient behavioren_GB
dc.contributor.authorHelvig, Ashley W.en_GB
dc.contributor.authorSawyer, Nikkien_GB
dc.contributor.authorEscayg, Andrewen_GB
dc.contributor.authorDecker, Michael J.en_GB
dc.contributor.departmentNon-memberen_GB
dc.author.detailsAshley W. Helvig, PhD, RN, CRNI, ashley.helvig@gmail.com; Nikki Sawyer, BS; Andrew Escayg, PhD; Michael J. Decker, PhD, RN, RRT, D.ABSMen_GB
dc.identifier.urihttp://hdl.handle.net/10755/308572-
dc.description.abstract<p>Session presented on: Monday, November 18, 2013</p>A goal of nursing research is to build the scientific foundation for patient care (ninr.nih.gov).  Animal models of human diseases are becoming increasingly employed in nursing research to address gaps in the scientific evidence and understanding of clinical conditions. These models allow researchers unique opportunities to study potentially unrecognized problems and unexplored phenomenon.  Our research involves examining various aspects of epilepsy disorders associated with voltage-gated sodium channel dysfunction related to mutations within the SCN1A gene.  Genetic epilepsy with febrile seizures plus (GEFS+) is one of these epilepsy disorders and is  associated with a wide variety of symptom severity and age of onset (Escayg & Goldin, 2010) and may be associated with learning deficits, behavioral problems, and neuropsychiatric disorders (Mahoney et al., 2009).   Most human studies of GEFS+ involve examination of the various seizure and neurological phenotypes but rarely have these studies examined behavioral phenotypes.  Additionally, the impact of stress in this population is not reported.  Because of the paucity of data regarding behavior and stress in persons with GEFS+, our lab examined these variables in an animal model.  Animals used in the study were generated by knock-in of the human SCN1A R1648H missense mutation into the mouse Scn1a gene (Martin et al., 2010) which recapitulates the human condition of GEFS+.  With this model, we have characterized increased levels of locomotor activity that are unrelated to seizure activity.  We interpret this finding as preliminary evidence of sodium channel integrity as a factor contributing to symptoms of behavioral hyperactivity.  Our findings suggest that animal models of epilepsy may help to provide better insight into the outcomes and mechanisms contributing to behavioral phenotypes associated with this disorder.  By studying this animal model, we will now be able to concentrate efforts in our research with humans in areas we had not considered previously.en_GB
dc.subjectepilepsyen_GB
dc.subjectAnimal Modelen_GB
dc.subjectgeneticsen_GB
dc.date.available2013-12-19T17:33:04Z-
dc.date.issued2013-12-19-
dc.date.accessioned2013-12-19T17:33:04Z-
dc.conference.date2013en_GB
dc.conference.name42nd Biennial Conventionen_GB
dc.conference.hostSigma Theta Tau International, the Honor Society of Nursingen_GB
dc.conference.locationIndianapolis, Indiana, USAen_GB
dc.description42nd Biennial Convention 2013 Theme: Give Back to Move Forward. Held at the JW Marriotten_GB
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