Article
ILAE Genetic Literacy Series: familial focal epilepsy syndromes.
Epileptic disorders : international epilepsy journal with videotape - 1 Apr 2022
Gooley Samuel, Crompton Douglas E, Berkovic Samuel F
Abstract excerpt
There are a number of familial focal epilepsy syndromes, each with distinct clinical characteristics. Here, we review the epilepsy phenotypes and the genetic architecture of these syndromes. Using an illustrative clinical case, we describe the important steps in making a diagnosis and ordering appropriate genetic tests. Our discussion on the genetics of the familial focal epilepsies will provide a framework for...
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