Epilepsy genetics: The ongoing revolution

Lesca, Gaëtan; Depienne, Christel

doi:10.1016/j.neurol.2015.01.569

Cited by 10 publications

(4 citation statements)

References 266 publications

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“…The ongoing revolution in epilepsy genetics offers the possibility of early diagnosis and application of precision medicine and personalized treatments that may have a critical impact on the evolution of patients suffering from rare epilepsies. 16 , 17 , 18 , 19 In this era, optimizing the accessibility and availability of genetic testing to all patients suffering from epilepsies is essential. This survey has brought to light several discrepancies in the provision of genetic testing for epilepsy across Europe.…”

Section: Discussionmentioning

confidence: 99%

Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE

Papadopoulou,

Muccioli,

Bisulli

et al. 2024

Epilepsia Open

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ObjectiveThe increasingly rapid pace of advancement in genetic testing may lead to inequalities in technical and human resources with a negative impact on optimal epilepsy clinical practice. In this view, the European Reference Network (ERN) for Rare and Complex Epilepsies EpiCARE conducted a survey addressing several aspects of accessibility, availability, costs, and standard practices on genetic testing across ERN EpiCARE centers.MethodsAn online Google form was sent to 70 representatives of ERN EpiCARE centers. Descriptive statistics and qualitative analysis were used for data presentation.ResultsWe received 45 responses (1/center) representing 23 European countries with a better representation of Western Europe. Forty‐five percent of the centers did not have access to all available types of genetic testing, mainly reflecting the limited availability of whole‐genome sequencing (WGS). Thirty‐five percent of centers report cost coverage only for some of the available tests, while costs per test varied significantly (interquartile range IQR ranging from 150 to 1173 euros per test across centers). Urgent genetic testing is available in 71.7% of countries (time‐to‐urgent result: 2 day to 2 months). The average time‐to‐result of specific tests in case of non‐urgent prescription has a significant variance across centers, with the biggest range observed for whole‐exome sequencing (6–128 weeks, IQR: 27 weeks). The percentage of agreement among the experts regarding the choice of genetic test at first intention in specific clinical situations was in all cases less than 50 percent (34.9% to 47% according to the proposed scenarios).SignificanceCosts, time to deliver the results to the clinician, and type of first‐line genetic testing vary widely across Europe, even in countries where ERN EpiCARE centers are present. Increased availability of genetic tests and guidance for optimal test choices in epilepsy remains essential to avoid diagnostic delays and excess health costs.Plain Language SummaryThe survey of the ERN EpiCARE highlights disparities in genetic testing for epilepsy across 45 ERN EpiCARE centers in 23 European countries. The findings reveal variable access to certain genetic tests, with lowest access to WGS. Costs and time‐to‐results vary widely. Urgent genetic testing is available in 71.7% of countries. Agreement among experts on first‐line genetic tests for specific patient scenarios is below 50%. The study emphasizes the need for improved test availability and guidance to avoid diagnostic delays and unnecessary costs. EpiCARE has the mission to contribute in homogenizing best practices across Europe.

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Section: Discussionmentioning

confidence: 99%

Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE

Papadopoulou,

Muccioli,

Bisulli

et al. 2024

Epilepsia Open

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“…A few genes were identified in the late 1990's and were associated with recognizable familial phenotypes, such as autosomal dominant frontal-lobe epilepsy, epilepsy with auditory features, and genetic epilepsies with febrile seizures plus. Over the past decade, the identification of genes involved in Mendelian epileptic disorders has grown exponentially, thanks to technological advances, first in cytogenetics (array-CGH, SNP-array) and then in next-generation sequencing (Lesca and Depienne, 2015;Bayat et al, 2021).…”

Section: Introductionmentioning

confidence: 99%

The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies

Arnaud¹,

Wardé

Barcia

et al. 2022

European Journal of Medical Genetics

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“…The epidemiology of epilepsy reflects how it represents one of the most common neurological causes of disability, with an estimated 1% prevalence [1] and an incidence ranging between 40 and 200/100,000 [2] globally, despite the clear difficulty to refer to large-scale sets of data, because of the various and heterogeneous groups of disorders that make up the condition itself, the degree of regional variability, and a dearth of relevant studies on the issue. According to a definition that was issued in 2005 by the International League Against Epilepsy (ILAE), an epileptic seizure is “a transient occurrence of signs and/or symptoms due to an abnormal excessive or synchronous neuronal activity in the brain” [3].…”

Section: Introductionmentioning

confidence: 99%

Recent Medico-Legal Developments on the Issue of Epilepsy and Driver’s License Requirements in the Italian and European Legislation

Mazzariol

Pastorini

Luca

et al. 2019

Behavioural Neurology

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Epilepsy is a condition that comprises a group of neurological disorders characterized by seizures. Forms of epilepsy that produce abrupt bouts that cause lapses in consciousness may pose a major road safety problem for drivers who, while going through a seizure, could seriously harm themselves as well as others. A fundamental strategy for the purpose of reducing the risk of car accidents caused by epileptic drivers is constituted by prevention, in addition to adequate pharmacological therapies. In that respect, forensic medicine plays a pivotal role, since it deals with the set of requirements that must be met by those who have been diagnosed with epilepsy in order to get a driver's license, and with the obligation to signal such individuals to the national Driver and Vehicle Licensing Agency (in Italian: Motorizzazione Civile). In that regard, the Italian legislative framework is partly hazy in some respects, which the authors have set out to analyze herein, taking into account recently issued European norms. The aim of this paper was to better understand the current Italian legislation in the matter of epilepsy and driver's license requirements, especially regarding the medical criteria that must be met in order to obtain the driving license. The importance of those criteria is underlined by the fact that they directly influence (and are influenced by) the safety for the drivers and for the persons involved in car accidents. Thus, we can consider the issue not only strictly of medico-legal relevance but also from the standpoint of primary prevention. The analysis was conducted by reviewing the most recent documents of medico-legal relevance, in the light of European Union legislation. The authors have ultimately stressed the need for clearer and straightforward regulations, given that professional liability may arise whenever a driver's license is issued, in disregard of legal norms, to an individual who then causes a road accident.

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Epilepsy genetics: The ongoing revolution

Cited by 10 publications

References 266 publications

Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE

Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE

The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies

Recent Medico-Legal Developments on the Issue of Epilepsy and Driver’s License Requirements in the Italian and European Legislation

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