Genetic Testing in Children with Developmental and Epileptic Encephalopathies: A Review of Advances in Epilepsy Genomics

被引：11

作者：

Chang, Yu-Tzu ^{[1
,2
]}

Hong, Syuan-Yu ^{[2
,3
,4
]}

Lin, Wei-De ^{[1
,5
]}

Lin, Chien-Heng ^{[6
,7
]}

Lin, Sheng-Shing ^{[1
,2
]}

Tsai, Fuu-Jen ^{[5
,8
,9
,10
,11
]}

Chou, I-Ching ^{[2
,12
]}

机构：

[1] China Med Univ, Sch Post Baccalaureate Chinese Med, Taichung 40447, Taiwan

[2] China Med Univ, Childrens Hosp, Div Pediat Neurol, Taichung 40447, Taiwan

[3] China Med Univ, Sch Med, Dept Med, Taichung 40447, Taiwan

[4] China Med Univ, Grad Inst Biomed Sci, Taichung 40447, Taiwan

[5] China Med Univ Hosp, Dept Med Res, Taichung 40447, Taiwan

[6] China Med Univ, Childrens Hosp, Div Pediat Pulmonol, Taichung 40447, Taiwan

[7] China Medial Univ, Coll Med, Dept Biomed Imaging & Radiol Sci, Taichung 40447, Taiwan

[8] China Med Univ, Childrens Hosp, Div Genet & Metab, Taichung 40447, Taiwan

[9] China Med Univ Hosp, Dept Med Genet, Taichung 40447, Taiwan

[10] China Med Univ, Sch Chinese Med, Taichung 40447, Taiwan

[11] Asia Univ, Dept Med Lab Sci & Biotechnol, Taichung 40447, Taiwan

[12] China Med Univ, Grad Inst Integrated Med, Taichung 40447, Taiwan

来源：

CHILDREN-BASEL | 2023年 / 10卷 / 03期

关键词：

epileptic encephalopathy; genetic testing; developmental delay; whole-genome sequencing; next-generation sequencing; MOLECULAR DIAGNOSIS; DRAVET SYNDROME; CLASSIFICATION; DISABILITY; LANDSCAPE; VARIANTS; SEIZURES; THERAPY;

D O I：

10.3390/children10030556

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Advances in disease-related gene discovery have led to tremendous innovations in the field of epilepsy genetics. Identification of genetic mutations that cause epileptic encephalopathies has opened new avenues for the development of targeted therapies. Clinical testing using extensive gene panels, exomes, and genomes is currently accessible and has resulted in higher rates of diagnosis and better comprehension of the disease mechanisms underlying the condition. Children with developmental disabilities have a higher risk of developing epilepsy. As our understanding of the mechanisms underlying encephalopathies and epilepsies improves, there may be greater potential to develop innovative therapies tailored to an individual's genotype. This article provides an overview of the significant progress in epilepsy genomics in recent years, with a focus on developmental and epileptic encephalopathies in children. The aim of this review is to enhance comprehension of the clinical utilization of genetic testing in this particular patient population. The development of effective and precise therapeutic strategies for epileptic encephalopathies may be facilitated by a comprehensive understanding of their molecular pathogenesis.

引用

页数：14

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