Jabbari, Kamel and Nuernberg, Peter (2016). A genomic view on epilepsy and autism candidate genes. Genomics, 108 (1). S. 31 - 37. SAN DIEGO: ACADEMIC PRESS INC ELSEVIER SCIENCE. ISSN 1089-8646

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Abstract

Epilepsy is a common complex disorder most frequently associated with psychiatric and neurological diseases. Massive parallel sequencing of individual or cohort genomes and exomes led the identification of several disease associated genes. We review here the candidate genes in epilepsy genetics with focus on exome and gene panel data. Together with the examination of brain expressed genes and post synaptic proteome the results show that: (1) Non-metabolic epilepsies and autism candidate genes tend to be AT-rich and (2) large transcript size and local AT-richness are characteristic features of genes involved in developmental brain disorders and synaptic functions. These results point to the preferential location of core epilepsy and autism candidate genes in late replicating, GC-poor chromosomal regions (isochores). These results indicate that the genomic alterations leading to some brain disorders are confined to responsive chromatin areas harboring brain critical genes. (C) 2016 Elsevier Inc. All rights reserved.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Jabbari, KamelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nuernberg, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-271065
DOI: 10.1016/j.ygeno.2016.01.001
Journal or Publication Title: Genomics
Volume: 108
Number: 1
Page Range: S. 31 - 37
Date: 2016
Publisher: ACADEMIC PRESS INC ELSEVIER SCIENCE
Place of Publication: SAN DIEGO
ISSN: 1089-8646
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
DE-NOVO MUTATIONS; POTASSIUM CHANNEL GENE; COMMON FRAGILE SITES; TOPOISOMERASE-II; LONG GENES; SPECTRUM; TRANSCRIPTION; ORGANIZATION; DISCOVERY; SEQUENCESMultiple languages
Biotechnology & Applied Microbiology; Genetics & HeredityMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/27106

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