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

A. Orsini, A. Bonuccelli, P. Striano, A. Azzara, G. Costagliola, R. Consolini, D. G. Peroni, A. Valetto, V. Bertini

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)38-40
Number of pages3
JournalSeizure
Volume59
DOIs
Publication statusPublished - Jul 1 2018

Keywords

  • 13q34 deletion
  • ARHGEF7
  • Epilepsy
  • SOX1

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Fingerprint

Dive into the research topics of 'Generalized epilepsy and mild intellectual disability associated with 13q34 deletion: A potential role for SOX1 and ARHGEF7'. Together they form a unique fingerprint.

Cite this