Universität zu Köln

Khoshkhoo, Sattar ORCID: 0000-0003-3348-557X, Lal, Dennis and Walsh, Christopher A. (2021). Application of single cell genomics to focal epilepsies: A call to action. Brain Pathol., 31 (4). HOBOKEN: WILEY. ISSN 1750-3639

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Abstract

Focal epilepsies are the largest epilepsy subtype and associated with significant morbidity. Somatic variation is a newly recognized genetic mechanism underlying a subset of focal epilepsies, but little is known about the processes through which somatic mosaicism causes seizures, the cell types carrying the pathogenic variants, or their developmental origin. Meanwhile, the inception of single cell biology has completely revolutionized the study of neurological diseases and has the potential to answer some of these key questions. Focusing on single cell genomics, transcriptomics, and epigenomics in focal epilepsy research, circumvents the averaging artifact associated with studying bulk brain tissue and offers the kind of granularity that is needed for investigating the consequences of somatic mosaicism. Here we have provided a brief overview of some of the most developed single cell techniques and the major considerations around applying them to focal epilepsy research.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Khoshkhoo, Sattar UNSPECIFIED orcid.org/0000-0003-3348-557X UNSPECIFIED Lal, Dennis UNSPECIFIED UNSPECIFIED UNSPECIFIED Walsh, Christopher A. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-596572
DOI:	10.1111/bpa.12958
Journal or Publication Title:	Brain Pathol.
Volume:	31
Number:	4
Date:	2021
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1750-3639
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language PATHWAY MUTATIONS CAUSE; DE-NOVO MUTATIONS; DNA METHYLATION; RNA-SEQ; CORTICAL DYSPLASIA; SOMATIC MUTATIONS; CHROMATIN ACCESSIBILITY; TRANSCRIPTIONAL LANDSCAPE; CONDITIONAL DELETION; REGULATORY ELEMENTS Multiple languages Clinical Neurology; Neurosciences; Pathology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/59657