Genetic testing for unexplained epilepsy: A review of diagnostic approach, benefits, and referral algorithm

被引：3

作者：

Karlin, Alexis ^{[1
]}

Ruggiero, Sarah ^{[1
]}

Fitzgerald, Mark ^{[1
,2
]}

机构：

[1] Univ Penn, Childrens Hosp Philadelphia, Buerger Ctr Adv Pediat Care, Perelman Sch Med,Dept Neurol & Pediat,Div Child Ne, Philadelphia, PA 19104 USA

[2] Univ Penn, Perelman Sch Med, Philadelphia, PA USA

来源：

CURRENT PROBLEMS IN PEDIATRIC AND ADOLESCENT HEALTH CARE | 2024年 / 54卷 / 08期

关键词：

ENCEPHALOPATHIES; VARIANTS; SEQUENCE;

D O I：

10.1016/j.cppeds.2024.101579

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

In the last several decades, advances in genetic testing have transformed the diagnostic and therapeutic approach to pediatric epilepsy. However, the interpretation of these genetic tests often requires expert analysis and counseling. For this reason, as our molecular understanding of the linkages between abnormal cerebral physiology and genetics has grown, so too has the field of clinical epilepsy genetics. Here we explore recent advances in genetic testing, describe the benefits of genetic testing in epilepsy, and provide a practice guideline for testing and referrals to specialized epilepsy genetics centers, highlighting the Epilepsy NeuroGenetics Initiative (ENGIN) Clinic and the Center for Epilepsy and Neurodevelopmental Disorders (ENDD) at the Children's Hospital of Philadelphia as an illustration of such a specialized center.

引用

页数：6

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