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

doi:10.1016/j.seizure.2018.04.016

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

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	38-40
Number of pages	3
Journal	Seizure
Volume	59
DOIs	https://doi.org/10.1016/j.seizure.2018.04.016
Publication status	Published - Jul 1 2018

Keywords

13q34 deletion
ARHGEF7
Epilepsy
SOX1

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1016/j.seizure.2018.04.016

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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.",

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T1 - Generalized epilepsy and mild intellectual disability associated with 13q34 deletion

T2 - A potential role for SOX1 and ARHGEF7

AU - Orsini, A.

AU - Bonuccelli, A.

AU - Striano, P.

AU - Azzara, A.

AU - Costagliola, G.

AU - Consolini, R.

AU - Peroni, D. G.

AU - Valetto, A.

AU - Bertini, V.

PY - 2018/7/1

Y1 - 2018/7/1

N2 - 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.

AB - 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.

KW - 13q34 deletion

KW - ARHGEF7

KW - Epilepsy

KW - SOX1

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

Abstract

Keywords

ASJC Scopus subject areas

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