Generalized epilepsy and mild intellectual disability associated with 13q34 deletion: A potential role for SOX1 and ARHGEF7

Terminal deletions of long arm of chromosome 13 are rare and poorly characterized by cytogenetic studies, making for difficult genotype-phenotype correlations. We report two siblings presenting generalized epilepsy, intellectual disability, and genitourinary tract defects. Array CGH detected a 1.3 M...

Full description

Saved in:
Bibliographic Details
Published in:Seizure (London, England) England), 2018-07, Vol.59, p.38-40
Main Authors: Orsini, A., Bonuccelli, A., Striano, P., Azzara, A., Costagliola, G., Consolini, R., Peroni, D.G., Valetto, A., Bertini, V.
Format: Article
Language:English
Subjects:
13q34 deletion
ARHGEF7
Epilepsy
SOX1
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Terminal deletions of long arm of chromosome 13 are rare and poorly characterized by cytogenetic studies, making for difficult genotype-phenotype correlations. We report two siblings presenting generalized epilepsy, intellectual disability, and genitourinary tract defects. Array CGH detected a 1.3 Mb deletion at 13q34; it contains two protein-coding genes, SOX1 and ARHGEF7, whose haploinsufficiency can contribute to the epileptic phenotype.
ISSN:1059-1311
1532-2688
DOI:10.1016/j.seizure.2018.04.016