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Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

Author: , AliuErmal, Amlie-WolfLouise, AnanthAmitha L, AngioneKatie, AradhyaSwaroop, ArainAmir M, AssafMelissa J, BatleyKaitlin Y, BearJoshua J, Benítez AlonsoEdmar O, BergAnne T, BonkowskyJoshua L, BorlotFelippe, BoutlierSusan B, BoyarchukOksana, BristowSara L, BuppCaleb P, BurkeRebecca J, BurnsKaitlyn, CandeeMeghan S, CarsonRobert P, ChagnonSarah L, ChariGeetha, ChavdaDevraj, ChernuhaVeronika, Chirita-EmandiAdela, CostinCarrie E, DaoJasmin M, Dueñas-RoqueMilagros M, EschbachKrista, EspinozaA Chris, EsplinEdward D, FaheyMichael C, FalchekStephen, FelixTemis M, FillouxFrancis M, FreemanJeremy L, FultonStephen, Gonzalez-GiraldoErnesto, GuerraPatricio, GuzmánGuillermo G, HabelaChrista W, Haldeman-EnglertChad R, HammondKatherine C, HassanMuhammad Jawad, HatchellKathryn E, HumbersonJennifer B, HurstAnna C E, HwangSean T, JacobsonMona, JiangHuiyuan, KalikaPaige M, KammeyerRyan, KanhangadManoj, KarkareShefali, KelloggMarissa A, Kulasa-LukeDianne, KumarAshutosh, Lay-SonGuillermo, LevyRebecca J, LoraEvelyn G, LukeRebecca R, LupoPamela, MachieMichelle, MaletsMyroslava, MarshEric D, MassinghamLauren J, McKnightDianalee, MegarbaneAndre, MeibosBailey, MiroshnikovOleksandr, MohamedIsmail S, Monroy-SantoyoSusana, Montiel BlancoJohnny David, MoralesAna, MoretzChad, MuWeiyi, MullerEric, MurphyAndrea, NechaiAlla, NelsonGary R, NolanDanielle A, NolanMelinda, NussbaumRobert L, OstranderBetsy, PalmquistRachel, ParachuriVenu G, ParikhSumit, ParkKristen L, PavliukMariia, PedersenRobert C, PerryMichael Scott, PisaniLaura, PlazaLautaro, PressCraig A, Ramirez-GarciaMiguel Angel, RazaMuhammad, Reyes-SilvaCarlos Alberto, Rodriguez-VazquezNatalia, Rojas CarrionMiguel David, RyanMonique M, Ríos-PohlLoreto, SchatzKrista, SeinfeldSyndi, Shiloh-MalawskyYael, SilvaSebastian, SmithDouglas M, SogawaYoshimi, Soler-AlfonsoClaudia, StarksAngela, StetsenkoTetiana, SvystilnykVictoria, SweneyMatthew T, TrasmonteJoseph, TreatLauren, Van OrmanColin B, VenegasViviana, WeinstockArie, WhelessJames W, WilsonCarey A, WongKristen, ZarroliKatherine, ZiobroJulie, ZuccarelliBritton, de MontellanoDavid J Dávila-Ortiz

Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.
Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.

Overview

This retrospective cross-sectional study evaluated the association between genetic diagnoses in patients with epilepsy and clinical management and outcomes. A genetic diagnosis was associated with changes in clinical management for 49.8% of patients, most commonly leading to the addition or initiation of medication, referral to a specialist, vigilance for subclinical or extraneurological disease features, or cessation of medication. Positive outcomes were reported for 74.9% of patients with follow-up information available, including reduced or eliminated seizures, decreased severity of clinical signs, and reduced medication adverse effects.
Paper Details　
Original Abstract of the Article :
IMPORTANCE: It is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated with clinical management and outcomes. OBJECTIVE: To evaluate how genetic diagnoses in patients with epilepsy are associated with clinical management and outcomes. DES...See full text at original site
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引用元：
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9623482/

データ提供：米国国立医学図書館（NLM）

Genetic Testing and Epilepsy Management: A Camel's Journey Through the Desert of Neurological Disorders

Epilepsy, a neurological disorder characterized by recurrent seizures, can significantly impact quality of life. This study explores the role of genetic testing in informing epilepsy treatment management, examining how genetic diagnoses influence clinical decision-making and patient outcomes. The researchers retrospectively analyzed data from 418 patients with epilepsy who underwent multigene panel testing, assessing the impact of genetic diagnoses on treatment changes, medication adjustments, and overall outcomes.

Genetic Testing: A Guiding Star in the Desert of Epilepsy Management

The study reveals that a genetic diagnosis is often associated with significant changes in clinical management for patients with epilepsy, including medication adjustments, referrals to specialists, and increased vigilance for potential complications. These findings underscore the potential of genetic testing to personalize epilepsy treatment and improve patient outcomes.

Harnessing the Power of Genetics: A Camel's Perspective on Epilepsy Management

This research provides a compelling case for integrating genetic testing into the management of epilepsy, emphasizing the importance of personalized medicine in addressing this complex neurological disorder. By understanding the underlying genetic factors contributing to epilepsy, clinicians can develop more effective treatment plans, optimize medication choices, and ultimately improve patient outcomes.

Dr. Camel's Conclusion

This research offers a valuable perspective on the role of genetic testing in epilepsy management, highlighting its potential to personalize treatment and enhance patient outcomes. The study's findings emphasize the importance of incorporating genetic information into clinical decision-making, paving the way for more effective and tailored approaches to epilepsy care.

Date :
  1. Date Completed 2022-12-14
  2. Date Revised 2023-04-12
Further Info :

Pubmed ID

36315135

DOI: Digital Object Identifier

PMC9623482

Related Literature

Article Analysis
・Effective treatment of genetic testing
SNS
PICO Info
in preparation
Languages

English

Positive IndicatorAn AI analysis index that serves as a benchmark for how positive the results of the study are. Note that it is a benchmark and requires careful interpretation and consideration of different perspectives.

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