Publication
Title
Genetic literacy series: primer part 2: paradigm shifts in epilepsy genetics
Author
Institution/Organisation
International League Against Epilepsy Genetics Commission
Abstract
This is the second of a 2‐part primer on the genetics of the epilepsies within the Genetic Literacy Series of the Genetics Commission of the International League Against Epilepsy. In Part 1, we covered types of genetic variation, inheritance patterns, and their relationship to disease. In Part 2, we apply these basic principles to the case of a young boy with epileptic encephalopathy and ask 3 important questions: (1) Is the gene in question an established genetic etiology for epilepsy? (2) Is the variant in this particular gene pathogenic by established variant interpretation criteria? (3) Is the variant considered causative in the clinical context? These questions are considered and then answered for the clinical case in question.
Language
English
Source (journal)
Epilepsia. - Boston, Mass.
Epilepsia. - Boston, Mass.
Publication
Boston, Mass. : 2018
ISSN
0013-9580
Volume/pages
59 :6 (2018) , p. 1138-1147
ISI
000434354000012
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 16.07.2018
Last edited 20.09.2021
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