Generalized Epilepsy in Two Patients with 5p Duplication

Gerhard Kluger; Udo Koehler; Teresa M. Neuhann; Tom Pieper; Martin Staudt; Celina von Stülpnagel

doi:10.1055/s-0033-1333872

Neuropediatrics, Table of Contents

Neuropediatrics 2013; 44(04): 225-229
DOI: 10.1055/s-0033-1333872

Short Communication

Georg Thieme Verlag KG Stuttgart · New York

Generalized Epilepsy in Two Patients with 5p Duplication

Gerhard Kluger

¹Schön Klinik Vogtareuth, Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Vogtareuth, Germany

²Paracelsus Medical University Salzburg, Salzburg, Austria

,

Udo Koehler

³MGZ–Medical Genetics Center, Munich, Germany

,

Teresa M. Neuhann

³MGZ–Medical Genetics Center, Munich, Germany

,

Tom Pieper

¹Schön Klinik Vogtareuth, Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Vogtareuth, Germany

,

Martin Staudt

¹Schön Klinik Vogtareuth, Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Vogtareuth, Germany

⁴Department for Neuropediatrics and Developmental Neurology, University Hospital for Children and Adolescents, Tübingen, Germany

,

Celina von Stülpnagel

¹Schön Klinik Vogtareuth, Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Vogtareuth, Germany

› Author Affiliations

Abstract

Background There are only few reports on patients with duplications of the short arm of chromosome 5, with little information about concomitant epilepsy.

Patients We report on two patients with generalized epilepsies since age 2.5 years, in whom array comparative genomic hybridization revealed microduplications of different sizes in the short arm of chromosome 5. Both patients showed developmental delay, and magnetic resonance images were normal. The larger duplication in patient 1, who additionally exhibited dysmorphic features and photosensivity on electroencephalogram, occurred de novo, whereas the smaller duplication in patient 2 was paternally inherited.

Discussion The overlapping duplicated region in band 5p13.1 comprises four genes (RICTOR, FYB, C9, and DAB2). Further investigation on patients with duplication 5p and epilepsy are needed to possibly identify a potential susceptibility locus for epilepsy at chromosome 5p13.1.

Keywords

5p microduplication - nonlesional epilepsy - seizures - array CGH

Full Text

References

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