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Review
. 2015 Jun;62(3):703-22.
doi: 10.1016/j.pcl.2015.03.013.

Genetics of pediatric epilepsy

Abeer J Hani  1 , Husam M Mikati  2 , Mohamad A Mikati  3
Affiliations
Review

Genetics of pediatric epilepsy

Abeer J Hani et al. Pediatr Clin North Am. 2015 Jun.

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.

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