Genetics of pediatric epilepsy

Abeer J Hani; Husam M Mikati; Mohamad A Mikati

doi:10.1016/j.pcl.2015.03.013

Genetics of pediatric epilepsy

Pediatr Clin North Am. 2015 Jun;62(3):703-22. doi: 10.1016/j.pcl.2015.03.013.

Authors

Abeer J Hani¹, Husam M Mikati², Mohamad A Mikati³

Affiliations

¹ Division of Pediatric Neurology, Department of Pediatrics, Duke Children's Hospital and Health Center, Suite T0913J, 2301 Erwin Road, Durham, NC 27710, USA.
² Center of Human Genome Variation, LSRC, Duke University School of Medicine, 201 Trent Drive, Durham, NC 27710, USA.
³ Division of Pediatric Neurology, Department of Pediatrics, Duke Children's Hospital and Health Center, Suite T0913J, 2301 Erwin Road, Durham, NC 27710, USA. Electronic address: mohamad.mikati@duke.edu.

PMID: 26022171
DOI: 10.1016/j.pcl.2015.03.013

Abstract

As the genetic etiologies of an expanding number of epilepsy syndromes are revealed, the complexity of the phenotype genotype correlation increases. As our review will show, multiple gene mutations cause different epilepsy syndromes, making identification of the specific mutation increasingly more important for prognostication and often more directed treatment. Examples of that include the need to avoid specific drugs in Dravet syndrome and the ongoing investigations of the potential use of new directed therapies such as retigabine in KCNQ2-related epilepsies, quinidine in KCNT1-related epilepsies, and memantine in GRIN2A-related epilepsies.

Keywords: Children; Epilepsy; Epilepsy syndromes; Genetics.

Publication types

Review

MeSH terms

Adolescent
Age of Onset
Child
Child, Preschool
Epilepsy / diagnosis
Epilepsy / genetics*
Epilepsy / therapy
Genotype
Humans
Infant
Infant, Newborn
Mutation / genetics*
Phenotype