title: Transcriptomic Profiling of Medial Temporal Lobe Epilepsy.
abstract: Epilepsy is one of the most prevalent neurological disorders affecting ~1% of the population. Medial temporal lobe epilepsy (MTLE) is the most frequent type of epilepsy observed in adults who do not respond to pharmacological treatment. The reason for intractability in these patients has not been systematically studied. Further, no markers are available that can predict the subset of patients who will not respond to pharmacotherapy. To identify potential biomarkers of epileptogenicity, we compared the mRNA profiles of surgically resected tissue from seizure zones with non-seizure zones from cases of intractable MTLE. We identified 413 genes that exhibited ≥2-fold change that were statistically significant across these two groups. Several of these differentially expressed genes have not been previously described in the context of MTLE including claudin 11 (CLDN11) and bone morphogenetic protein receptor, type IB (BMPR1B). In addition, we found significant downregulation of a subset of gamma-aminobutyric acid (GABA) associated genes. We also identified molecules such asBACH2andADAMTS15, which are already known to be associated with epilepsy. We validated one upregulated molecule, serine/threonine kinase 31 (STK31) and one downregulated molecule, SMARCA4, by immunohistochemical labeling of tissue sections. These molecules need to be further confirmed in large-scale studies to determine their potential use as diagnostic as well as prognostic markers in intractable MTLE.
authors.affiliation: Institute of Bioinformatics, International Technology Park, Bangalore, India ; Department of Biotechnology, Kuvempu University, Shimoga, India ; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA ; Departments of Biological Chemistry, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
authors.forename: Abhilash K
authors.initials: AK
authors.lastname: Venugopal
authors.forename: Ghantasala S
authors.initials: GS
authors.lastname: Sameer Kumar
authors.forename: Anita
authors.initials: A
authors.lastname: Mahadevan
authors.forename: Lakshmi Dhevi N
authors.initials: LD
authors.lastname: Selvan
authors.forename: Arivusudar
authors.initials: A
authors.lastname: Marimuthu
authors.forename: Jyoti Bajpai
authors.initials: JB
authors.lastname: Dikshit
authors.forename: Pramila
authors.initials: P
authors.lastname: Tata
authors.forename: Yl
authors.initials: Y
authors.lastname: Ramachandra
authors.forename: Raghothama
authors.initials: R
authors.lastname: Chaerkady
authors.forename: Sanjib
authors.initials: S
authors.lastname: Sinha
authors.forename: Ba
authors.initials: B
authors.lastname: Chandramouli
authors.forename: A
authors.initials: A
authors.lastname: Arivazhagan
authors.forename: Parthasarathy
authors.initials: P
authors.lastname: Satishchandra
authors.forename: Sk
authors.initials: S
authors.lastname: Shankar
authors.forename: Akhilesh
authors.initials: A
authors.lastname: Pandey
keywords: DNA microarrays; GABA receptor; GeneSpring; Medial temporal sclerosis; Temporal lobe epilepsy; Transcriptome profile