Universität zu Köln

Lal, Dennis, Pernhorst, Katharina, Klein, Karl Martin ORCID: 0000-0002-6654-1665, Reif, Philipp, Tozzi, Rossana, Toliat, Mohammad R., Winterer, Georg, Neubauer, Bernd, Nuernberg, Peter, Rosenow, Felix, Becker, Felicitas, Lerche, Holger, Kunz, Wolfram S. ORCID: 0000-0003-1113-3493, Kurki, Mitja I., Hoffmann, Per, Becker, Albert J., Perucca, Emilio, Zara, Federico ORCID: 0000-0001-9744-5222, Sander, Thomas and Weber, Yvonne G. (2015). Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy. Epilepsia, 56 (9). S. E129 - 5. HOBOKEN: WILEY. ISSN 1528-1167

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Abstract

Partial deletions of the RBFOX1 gene encoding the neuronal splicing regulator have been reported in a range of neurodevelopmental diseases including idiopathic/genetic generalized epilepsy (IGE/GGE), childhood focal epilepsy, and self-limited childhood benign epilepsy with centrotemporal spikes (BECTS, rolandic epilepsy), and autism. The protein regulates alternative splicing of many neuronal transcripts involved in the homeostatic control of neuronal excitability. Herein, we examined whether structural deletions affecting RBFOX1 exons confer susceptibility to common forms of juvenile and adult focal epilepsy syndromes. We screened 807 unrelated patients with sporadic focal epilepsy, and we identified seven hemizygous exonic RBFOX1 deletions in patients with sporadic focal epilepsy (0.9%) in comparison to one deletion found in 1,502 controls. The phenotypes of the patients carrying RBFOX1 deletions comprise magnetic resonance imaging (MRI)-negative epilepsy of unknown etiology with frontal and temporal origin (n=5) and two patients with temporal lobe epilepsy with hippocampal sclerosis. The epilepsies were largely pharmacoresistant but not associated with intellectual disability. Our study extends the phenotypic spectrum of RBFOX1 deletions as a risk factor for focal epilepsy and suggests that exonic RBFOX1 deletions are involved in the broad spectrum of focal and generalized epilepsies.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Lal, Dennis UNSPECIFIED UNSPECIFIED UNSPECIFIED Pernhorst, Katharina UNSPECIFIED UNSPECIFIED UNSPECIFIED Klein, Karl Martin UNSPECIFIED orcid.org/0000-0002-6654-1665 UNSPECIFIED Reif, Philipp UNSPECIFIED UNSPECIFIED UNSPECIFIED Tozzi, Rossana UNSPECIFIED UNSPECIFIED UNSPECIFIED Toliat, Mohammad R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Winterer, Georg UNSPECIFIED UNSPECIFIED UNSPECIFIED Neubauer, Bernd UNSPECIFIED UNSPECIFIED UNSPECIFIED Nuernberg, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Rosenow, Felix UNSPECIFIED UNSPECIFIED UNSPECIFIED Becker, Felicitas UNSPECIFIED UNSPECIFIED UNSPECIFIED Lerche, Holger UNSPECIFIED UNSPECIFIED UNSPECIFIED Kunz, Wolfram S. UNSPECIFIED orcid.org/0000-0003-1113-3493 UNSPECIFIED Kurki, Mitja I. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoffmann, Per UNSPECIFIED UNSPECIFIED UNSPECIFIED Becker, Albert J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Perucca, Emilio UNSPECIFIED UNSPECIFIED UNSPECIFIED Zara, Federico UNSPECIFIED orcid.org/0000-0001-9744-5222 UNSPECIFIED Sander, Thomas UNSPECIFIED UNSPECIFIED UNSPECIFIED Weber, Yvonne G. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-395386
DOI:	10.1111/epi.13076
Journal or Publication Title:	Epilepsia
Volume:	56
Number:	9
Page Range:	S. E129 - 5
Date:	2015
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1528-1167
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language MODEL; RISK Multiple languages Clinical Neurology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/39538