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Complexity in Genetic Epilepsies: A Comprehensive Review.

ABSTRACT: Epilepsy is a highly prevalent neurological disorder, affecting between 5-8 per 1000 individuals and is associated with a lifetime risk of up to 3%. In addition to high incidence, epilepsy is a highly heterogeneous disorder, with variation including, but not limited to the following: severity, age of onset, type of seizure, developmental delay, drug responsiveness, and other comorbidities. Variable phenotypes are reflected in a range of etiologies including genetic, infectious, metabolic, immune, acquired/structural (resulting from, for example, a severe head injury or stroke), or idiopathic. This review will focus specifically on epilepsies with a genetic cause, genetic testing, and biomarkers in epilepsy.

SUBMITTER: Rastin C

PROVIDER: S-EPMC10572646 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature

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Complexity in Genetic Epilepsies: A Comprehensive Review.

Rastin Cassandra C Schenkel Laila C LC Sadikovic Bekim B

International journal of molecular sciences 20230927 19

Epilepsy is a highly prevalent neurological disorder, affecting between 5-8 per 1000 individuals and is associated with a lifetime risk of up to 3%. In addition to high incidence, epilepsy is a highly heterogeneous disorder, with variation including, but not limited to the following: severity, age of onset, type of seizure, developmental delay, drug responsiveness, and other comorbidities. Variable phenotypes are reflected in a range of etiologies including genetic, infectious, metabolic, immune ...[more]

PMID: 37834053

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