In:
Epileptic Disorders, Wiley, Vol. 24, No. 2 ( 2022-04), p. 221-228
Kurzfassung:
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 interpreting the results of genetic testing, and allow us to apply this information to patient management.
Materialart:
Online-Ressource
ISSN:
1294-9361
,
1950-6945
DOI:
10.1684/epd.2021.1393
Sprache:
Englisch
Verlag:
Wiley
Publikationsdatum:
2022
ZDB Id:
2118181-0