dc.contributor.author
Baghel, Ruchi
dc.contributor.author
Grover, Sandeep
dc.contributor.author
Kaur, Harpreet
dc.contributor.author
Jajodia, Ajay
dc.contributor.author
Parween, Shama
dc.contributor.author
Sinha, Juhi
dc.contributor.author
Srivastava, Ankit
dc.contributor.author
Srivastava, Achal
dc.date.accessioned
2018-06-08T03:55:27Z
dc.date.available
2016-08-23T09:46:58.180Z
dc.identifier.uri
https://refubium.fu-berlin.de/handle/fub188/16217
dc.identifier.uri
http://dx.doi.org/10.17169/refubium-20401
dc.description.abstract
Introduction “Common epilepsies”, merely explored for genetics are the most
frequent, nonfamilial, sporadic cases in hospitals. Because of their much
debated molecular pathology, there is a need to focus on other neuronal
pathways including the existing ion channels. Methods For this study, a total
of 214 epilepsy cases of North Indian ethnicity comprising 59.81% generalized,
40.19% focal seizures, and based on epilepsy types, 17.29% idiopathic, 37.38%
cryptogenic, and 45.33% symptomatic were enrolled. Additionally, 170 unrelated
healthy individuals were also enrolled. Here, we hypothesize the involvement
of epilepsy pathophysiology genes, that is, synaptic vesicle cycle, SVC genes
(presynapse), ion channels and their functionally related genes (postsynapse).
An interactive analysis was initially performed in SVC genes using multifactor
dimensionality reduction (MDR). Further, in order to understand the influence
of ion channels and their functionally related genes, their interaction
analysis with SVC genes was also performed. Results A significant interactive
two-locus model of STX1A_rs4363087|VAMP2_rs2278637 (presynaptic genes) was
observed among SVC variants in all epilepsy cases (P1000-value = 0.054; CVC =
9/10; OR = 2.86, 95%CI = 1.88–4.35). Further, subgroup analysis revealed
stronger interaction for the same model in cryptogenic epilepsy patients only
(P1000-value = 0.012; CVC = 10/10; OR = 4.59, 95%CI = 2.57–8.22). However,
interactive analysis of presynaptic and postsynaptic genes did not show any
significant association. Conclusions Significant synergistic interaction of
SVC genes revealed the possible functional relatedness of presynapse with
pathophysiology of cryptogenic epilepsy. Further, to establish the clinical
utility of the results, replication in a large and similar phenotypic group of
patients is warranted.
en
dc.rights.uri
http://creativecommons.org/licenses/by/4.0/
dc.subject.ddc
500 Naturwissenschaften und Mathematik::570 Biowissenschaften; Biologie
dc.subject.ddc
600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit
dc.title
Synergistic association of STX1A and VAMP2 with cryptogenic epilepsy in North
Indian population
dc.type
Wissenschaftlicher Artikel
dcterms.bibliographicCitation
Brain and Behavior. - 6 (2016), 7,
dcterms.bibliographicCitation.doi
10.1002/brb3.490
dcterms.bibliographicCitation.url
http://onlinelibrary.wiley.com/doi/10.1002/brb3.490/abstract;jsessionid=458215C6C1919B680A0B60DC91E97805.f04t01?systemMessage=Wiley+Online+Library+will+be+unavailable+on+Saturday+3rd+September+2016+at+08.30+BST%2F+03%3A30+EDT%2F+15%3A30+SGT+for+5+hours+and+Sunday+4th+September+at+10%3A00+BST%2F+05%3A00+EST%2F+17%3A00+SGT+for+1+hour++for+essential+maintenance.+Apologies+for+the+inconvenience
refubium.affiliation
Charité - Universitätsmedizin Berlin
de
refubium.mycore.fudocsId
FUDOCS_document_000000025096
refubium.note.author
Der Artikel wurde in einer Open-Access-Zeitschrift publiziert.
refubium.resourceType.isindependentpub
no
refubium.mycore.derivateId
FUDOCS_derivate_000000006857
dcterms.accessRights.openaire
open access