The current landscape of epilepsy genetics: where are we, and where are we going?

被引：26

作者：

Ruggiero, Sarah M. ^{[1
,2
,3
]}

Xian, Julie ^{[1
,2
,3
]}

Helbig, Ingo ^{[1
,2
,3
,4
]}

机构：

[1] Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA

[2] Childrens Hosp Philadelphia, Epilepsy NeuroGenet Initiat ENGIN, Philadelphia, PA USA

[3] Childrens Hosp Philadelphia, Dept Biomed & Hlth Informat DBHi, Philadelphia, PA USA

[4] Univ Penn, Perelman Sch Med, Dept Neurol, Philadelphia, PA USA

来源：

CURRENT OPINION IN NEUROLOGY | 2023年 / 36卷 / 02期

基金：

美国国家卫生研究院;

关键词：

epilepsy; gene discovery; genetics; phenotypic characterization; NEONATAL SEIZURES; VARIANTS CAUSE; MUTATIONS; ENCEPHALOPATHY; ASSOCIATION; PHENOTYPES; INCLUSION;

D O I：

10.1097/WCO.0000000000001141

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Purpose of reviewIn this review, we aim to analyse the progress in understanding the genetic basis of the epilepsies, as well as ongoing efforts to define the increasingly diverse and novel presentations, phenotypes and divergences from the expected that have continually characterized the field.Recent findingsA genetic workup is now considered to be standard of care for individuals with an unexplained epilepsy, due to mounting evidence that genetic diagnoses significantly influence treatment choices, prognostication, community support, and increasingly, access to clinical trials. As more individuals with epilepsy are tested, novel presentations of known epilepsy genes are being discovered, and more individuals with self-limited epilepsy are able to attain genetic diagnoses. In addition, new genes causative of epilepsy are being uncovered through both traditional and novel methods, including large international data-sharing collaborations and massive sequencing efforts as well as computational methods and analyses driven by the Human Phenotype Ontology (HPO).New approaches to gene discovery and characterization are advancing rapidly our understanding of the genetic and phenotypic architecture of the epilepsies. This review highlights relevant and groundbreaking studies published recently that have pushed forward the field of epilepsy genetics.

引用

页码：86 / 94

页数：9

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