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Review
. 2018:148:467-491.
doi: 10.1016/B978-0-444-64076-5.00030-2.

Genetics of epilepsy

Danielle Nolan  1 , John Fink  2
Affiliations
Review

Genetics of epilepsy

Danielle Nolan et al. Handb Clin Neurol. 2018.

Abstract

Discovery of nearly 200 genes implicated in epilepsy and insights into the molecular and cellular pathways involved are transforming our knowledge of the causes, classifications, diagnosis, and in some cases, treatments for individuals with chronic seizure disorders. Numerous disorders once considered "idiopathic" are now recognized as genetic conditions. Despite these remarkable advances, the cause of epilepsy for most individuals is unknown. We present a clinical approach to patients with epilepsy, presenting an algorithm for clinical and genetic testing, and review genes implicated in epilepsy and their associated syndromes.

Keywords: GABRA1; KCNT2; SCN1A; SLC2A1; channelopathies; epilepsy; epileptic encephalopathies; febrile seizures; myoclonic seizures; seizures.

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