Genetic testing in the epilepsies-developments and dilemmas.

Nat Rev Neurol

Gertrude H. Sergievsky Center and Department of Neurology, College of Physicians and Surgeons, and Department of Epidemiology, Mailman School of Public Health, Columbia University, 630 West 168th Street, New York, NY 10032, USA.

Published: May 2014

AI Article Synopsis

  • The identification of genes linked to epilepsy has significantly increased over the past 20 years, enhancing diagnosis and treatment options.
  • Genetic testing can help clarify a patient's condition and assist in family planning, offering personal value even without clear clinical benefits for some.
  • The rise of genetic testing necessitates educating healthcare providers and supporting affected individuals and families in making informed decisions, while also considering the broader implications of testing outcomes on society.

Article Abstract

In the past two decades, the number of genes recognized to have a role in the epilepsies has dramatically increased. The availability of testing for epilepsy-related genes is potentially helpful for clarification of the diagnosis and prognosis, selection of optimal treatments, and provision of information for family planning. For some patients, identification of a specific genetic cause of their epilepsy has important personal value, even in the absence of clear clinical utility. The availability of genetic testing also raises new issues that have only begun to be considered. These issues include the growing importance of educating physicians about when and how to test patients, the need to ensure that affected individuals and their families can make informed choices about testing and receive support after receiving the results, and the question of what the positive and negative consequences of genetic testing will be for affected individuals, their family members, and society.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4090104PMC
http://dx.doi.org/10.1038/nrneurol.2014.60DOI Listing

Publication Analysis

Top Keywords

genetic testing
12
genetic
4
testing epilepsies-developments
4
epilepsies-developments dilemmas
4
dilemmas decades
4
decades number
4
number genes
4
genes recognized
4
recognized role
4
role epilepsies
4

Similar Publications

Novel Allele HLA-B*52:130, Identified by Next-Generation Sequencing.

HLA

January 2025

Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Medical University, Moscow, Russia.

The new HLA-B*52:130 allele showed one nonsynonymous nucleotide difference compared to the HLA-B*52:01:01:01 allele in codon 170.

View Article and Find Full Text PDF

Introduction: Recurrent opportunistic infections are particularly common in patients infected with human immunodeficiency virus (HIV). However, these opportunistic infections have also been reported in HIV-negative patients, especially those with primary immunodeficiency disorder (PID), a condition that involves a large heterogeneous group of disorders arising from defects in immune system development and/or function.

Case: Here, we report a very rare case of recurrent opportunistic infections in a non-HIV-infected patient combined with mutations in complement component C6 and nuclear factor kB subunit 1 ().

View Article and Find Full Text PDF

Clinical and genetic characteristics of patients with Alagille syndrome in China: identification of six novel and mutations.

Transl Pediatr

December 2024

Department of Gastroenterology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.

Background: Alagille syndrome (ALGS) is a rare disease. The variable clinical manifestations make the diagnosis of ALGS difficult. This study aimed to provide a basis for the early diagnosis of ALGS patients whose clinical identification is difficult and to enrich the spectrum of genetic variants implicated in Chinese children with ALGS.

View Article and Find Full Text PDF

Unveiling novel biomarkers for platinum chemoresistance in ovarian cancer.

Open Med (Wars)

January 2025

Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, P.R. China.

Primary chemoresistance to platinum-based treatment is observed in approximately 33% of individuals diagnosed with ovarian cancer; however, conventional clinical markers exhibit limited predictive value for chemoresistance. This study aimed to discover new genetic markers that can predict primary resistance to platinum-based chemotherapy. Through the analysis of three GEO datasets (GSE114206, GSE51373, and GSE63885) utilizing bioinformatics methodologies, we identified two specific genes, MFAP4 and EFEMP1.

View Article and Find Full Text PDF

Hypoparathyroidism (hypoPTH), sensorineural deafness, and renal dysplasia (HDR) syndrome is a rare autosomal dominant condition with approximately 200 cases published. HDR syndrome is caused by variants of GATA binding protein 3 gene (), which encodes a transcription factor, with multiple types of variants reported. We present the case of a 76-year-old woman who was diagnosed with hypoPTH when she was aged 40 years and transferred care to our institution.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!