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01-01-2016 | Original Communication

Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia

Authors: Karl Martin Klein, Manuela Pendziwiat, Rony Cohen, Silke Appenzeller, Carolien G. F. de Kovel, Felix Rosenow, Bobby P. C. Koeleman, Gregor Kuhlenbäumer, Liron Sheintuch, Ronel Veksler, Alon Friedman, Zaid Afawi, Ingo Helbig

Published in: Journal of Neurology | Issue 1/2016

Abstract

We report a new family with autosomal dominant epilepsy with auditory features (ADEAF) including focal cortical dysplasia (FCD) in the proband. We aim to identify the molecular cause in this family and clarify the relationship between FCD and ADEAF. A large Iranian Jewish family including 14 individuals with epileptic seizures was phenotyped including high-resolution 3-T MRI. We performed linkage analysis and exome sequencing. LGI1, KANK1 and RELN were Sanger sequenced. Seizure semiology of 11 individuals was consistent with ADEAF. The proband underwent surgery for right mesiotemporal FCD. 3-T MRIs in four individuals were unremarkable. Linkage analysis revealed peaks on chromosome 9p24 (LOD 2.43) and 10q22–25 (LOD 2.04). A novel heterozygous LGI1 mutation was identified in all affected individuals except for the proband indicating a phenocopy. Exome sequencing did not reveal variants within the chromosome 9p24 region. Closely located variants in KANK1 and a RELN variant did not segregate with the phenotype. We provide detailed description of the phenotypic spectrum within a large ADEAF family with a novel LGI1 mutation that was conspicuously absent in the proband with FCD, demonstrating that despite identical clinical symptoms, phenocopies in ADEAF families may exist. This family illustrates that rare epilepsy syndromes within a single family can have both genetic and structural etiologies.

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Title: Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia
Authors: Karl Martin Klein
Manuela Pendziwiat
Rony Cohen
Silke Appenzeller
Carolien G. F. de Kovel
Felix Rosenow
Bobby P. C. Koeleman
Gregor Kuhlenbäumer
Liron Sheintuch
Ronel Veksler
Alon Friedman
Zaid Afawi
Ingo Helbig
Publication date: 01-01-2016
Publisher: Springer Berlin Heidelberg
Published in: Journal of Neurology / Issue 1/2016
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-015-7921-2

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Springer Medicine

Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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