Universität zu Köln

Leu, Costin, Bautista, Jocelyn F., Sudarsanam, Monica, Niestroj, Lisa-Marie, Stefanski, Arthur, Ferguson, Lisa, Daly, Mark J., Jehi, Lara, Najm, Imad M., Busch, Robyn M. and Lal, Dennis (2020). Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizures. Sci Rep, 10 (1). BERLIN: NATURE RESEARCH. ISSN 2045-2322

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Abstract

Psychogenic nonepileptic seizures (PNES) are diagnosed in approximately 30% of patients referred to tertiary care epilepsy centers. Little is known about the molecular pathology of PNES, much less about possible underlying genetic factors. We generated whole-exome sequencing and whole-genome genotyping data to identify rare, pathogenic (P) or likely pathogenic (LP) variants in 102 individuals with PNES and 448 individuals with focal (FE) or generalized (GE) epilepsy. Variants were classified for all individuals based on the ACMG-AMP 2015 guidelines. For research purposes only, we considered genes associated with neurological or psychiatric disorders as candidate genes for PNES. We observe in this first genetic investigation of PNES that six (5.88%) individuals with PNES without coexistent epilepsy carry P/LP variants (deletions at 10q11.22-q11.23, 10q23.1-q23.2, distal 16p11.2, and 17p13.3, and nonsynonymous variants in NSD1 and GABRA5). Notably, the burden of P/LP variants among the individuals with PNES was similar and not significantly different to the burden observed in the individuals with FE (3.05%) or GE (1.82%) (PNES vs. FE vs. GE (3x2 chi (2)), P=0.30; PNES vs. epilepsy (2x2 chi (2)), P=0.14). The presence of variants in genes associated with monogenic forms of neurological and psychiatric disorders in individuals with PNES shows that genetic factors are likely to play a role in PNES or its comorbidities in a subset of individuals. Future large-scale genetic research studies are needed to further corroborate these interesting findings in PNES.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Leu, Costin UNSPECIFIED UNSPECIFIED UNSPECIFIED Bautista, Jocelyn F. UNSPECIFIED UNSPECIFIED UNSPECIFIED Sudarsanam, Monica UNSPECIFIED UNSPECIFIED UNSPECIFIED Niestroj, Lisa-Marie UNSPECIFIED UNSPECIFIED UNSPECIFIED Stefanski, Arthur UNSPECIFIED UNSPECIFIED UNSPECIFIED Ferguson, Lisa UNSPECIFIED UNSPECIFIED UNSPECIFIED Daly, Mark J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Jehi, Lara UNSPECIFIED UNSPECIFIED UNSPECIFIED Najm, Imad M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Busch, Robyn M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lal, Dennis UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-318996
DOI:	10.1038/s41598-020-72101-8
Journal or Publication Title:	Sci Rep
Volume:	10
Number:	1
Date:	2020
Publisher:	NATURE RESEARCH
Place of Publication:	BERLIN
ISSN:	2045-2322
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language EPILEPSY; DEPRESSION; DELETIONS; GENOMICS; PNES Multiple languages Multidisciplinary Sciences Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/31899