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

被引：6

作者：

Orsini, A. ^{[1
]}

Bonuccelli, A. ^{[1
]}

Striano, P. ^{[2
]}

Azzara, A. ^{[3
]}

Costagliola, G. ^{[1
]}

Consolini, R. ^{[1
]}

Peroni, D. G. ^{[1
]}

Valetto, A. ^{[3
]}

Bertini, V. ^{[3
]}

机构：

[1] Univ Pisa, Azienda Osped Univ Pisana, UO Pediat, Pisa, Italy

[2] Univ Genoa, Ist G Gaslini, Dipartimento Neurosci Riabilitaz Oftalmol Genet &, Neurol Pediat & Malattie Muscolari, Genoa, Italy

[3] Azienda Osped Univ Pisana, SOD Citogenet, Pisa, Italy

来源：

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY | 2018年 / 59卷

关键词：

13q34; deletion; Epilepsy; SOXI; ARHGEF7; MUTATIONS CAUSE;

D O I：

10.1016/j.seizure.2018.04.016

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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. (C) 2018 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

引用

页码：38 / 40

页数：3

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