Genetics in Epilepsy

Luis A Martinez; Yi-Chen Lai; J Lloyd Holder Jr; Anne E Anderson

doi:10.1016/j.ncl.2021.05.005

Genetics in Epilepsy

Neurol Clin. 2021 Aug;39(3):743-777. doi: 10.1016/j.ncl.2021.05.005.

Authors

Luis A Martinez¹, Yi-Chen Lai², J Lloyd Holder Jr¹, Anne E Anderson³

Affiliations

¹ Department of Pediatrics, Section of Pediatric Neurology and Developmental Neuroscience, Baylor College of Medicine, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, 1250 Moursund Drive, Houston, TX 77030, USA.
² Department of Pediatrics, Section of Pediatric Critical Care Medicine, Baylor College of Medicine, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, 1250 Moursund Drive, Houston, TX 77030, USA.
³ Department of Pediatrics, Section of Pediatric Neurology and Developmental Neuroscience, Baylor College of Medicine, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, 1250 Moursund Drive, Houston, TX 77030, USA. Electronic address: annea@bcm.edu.

PMID: 34215385
DOI: 10.1016/j.ncl.2021.05.005

Abstract

The presence of unprovoked, recurrent seizures, particularly when drug resistant and associated with cognitive and behavioral deficits, warrants investigation for an underlying genetic cause. This article provides an overview of the major classes of genes associated with epilepsy phenotypes divided into functional categories along with the recommended work-up and therapeutic considerations. Gene discovery in epilepsy supports counseling and anticipatory guidance but also opens the door for precision medicine guiding therapy with a focus on those with disease-modifying effects.

Keywords: Dravet syndrome; Early infantile epilepsy; Epilepsy phenotype; Epilepsy syndromes; GLUT-1 deficiency; Nonketotic hyperglycinemia; Precision medicine in epilepsy.

Publication types

Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review

MeSH terms

Epilepsy* / genetics
Humans
Phenotype

Grants and funding

T32 NS043124/NS/NINDS NIH HHS/United States