Universität zu Köln

Brunklaus, Andreas, Leu, Costin, Gramm, Marie, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Iqbal, Sumaiya and Lal, Dennis (2020). Time to move beyond genetics towards biomedical data-driven translational genomic research in severe paediatric epilepsies. Eur. J. Paediatr. Neurol., 24. S. 35 - 40. OXFORD: ELSEVIER SCI LTD. ISSN 1532-2130

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Abstract

By accumulating ever greater amounts of genomic data, scientists have identified >100 genes associated with Mendelian forms of epilepsy and neurodevelopmental disorders with seizures. For most of the identified genes a wide range of genetic variants have been identified and affected patients are clinically heterogeneous. It is not clear to which degree the clinical heterogeneity can be attributed to the disease causing variant alone. We need to improve our current understanding of biophysical effects of variants on protein function and the role of polygenic background in modifying the clinical representation. In addition, longitudinal clinical data need to be recorded using standardized methods and shared across research centers to build large virtual cohorts for each single gene disorder. Without large, comprehensive, longitudinal datasets, studying the interplay of environmental factors and genetic factors will be challenging. As a community, we must work together to set the foundation for biorepositories and the collection and sharing of 'big data' in order to allow genetic-phenotypic characterization of the epilepsies and to fully utilize the potential for drug discovery, and patient-specific tailored management. (C) 2019 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Brunklaus, Andreas UNSPECIFIED UNSPECIFIED UNSPECIFIED Leu, Costin UNSPECIFIED UNSPECIFIED UNSPECIFIED Gramm, Marie UNSPECIFIED UNSPECIFIED UNSPECIFIED Perez-Palma, Eduardo UNSPECIFIED orcid.org/0000-0003-0546-5141 UNSPECIFIED Iqbal, Sumaiya UNSPECIFIED UNSPECIFIED UNSPECIFIED Lal, Dennis UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-351249
DOI:	10.1016/j.ejpn.2019.12.001
Journal or Publication Title:	Eur. J. Paediatr. Neurol.
Volume:	24
Page Range:	S. 35 - 40
Date:	2020
Publisher:	ELSEVIER SCI LTD
Place of Publication:	OXFORD
ISSN:	1532-2130
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language SPECTRUM; COMMON; ASSOCIATION; SUBGROUPS; VARIANTS; MUTATION; RISK Multiple languages Clinical Neurology; Pediatrics Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/35124