Precision medicine in genetic epilepsies: break of dawn?

Abstract:

INTRODUCTION:Therapy with current antiepileptic drugs aims at reducing the likelihood of seizure occurrence rather than influencing the underlying disease process. Therefore, antiepileptic drugs have an anticonvulsant rather than antiepileptic property. Areas covered: The increasing identification of genetic causes for epilepsy over the recent years improves the understanding of the underlying epileptogenic process and allows for the possibility of directed therapeutic approaches. An ideal antiepileptic therapy consists of a drug which is able to influence the functional changes caused by a specific pathogenic variant. In this review we will describe the current precision medicine approaches in genetic epilepsies in reference to the identified genetic etiologies. References for this review were identified through searches of PubMed and the authors' own files. Expert commentary: Currently established or investigated precision medicine treatments include the ketogenic diet in patients with GLUT1 deficiency, sodium channel blockers in patients with KCNQ2, SCN2A and SCN8A mutations as well as mTOR-inhibitors in mTORopathies. These predominantly represent already available treatments that were repurposed for use in epilepsy. The development of new therapeutic agents aiming at targets identified in genetic epilepsies will advance epilepsy treatment considerably.

journal_name

Expert Rev Neurother

authors

Reif PS,Tsai MH,Helbig I,Rosenow F,Klein KM

doi

10.1080/14737175.2017.1253476

subject

Has Abstract

pub_date

2017-04-01 00:00:00

pages

381-392

issue

4

eissn

1473-7175

issn

1744-8360

journal_volume

17

pub_type

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