Unravelling the genetic architecture of autosomal recessive epilepsy in the genomic era

Jeffrey D. Calhoun, Gemma L. Carvill*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

7 Scopus citations


The technological advancement of next-generation sequencing has greatly accelerated the pace of variant discovery in epilepsy. Despite an initial focus on autosomal dominant epilepsy due to the tractable nature of variant discovery with trios under a de novo model, more and more variants are being reported in families with epilepsies consistent with autosomal recessive (AR) inheritance. In this review, we touch on the classical AR epilepsy variants such as the inborn errors of metabolism and malformations of cortical development. However, we also highlight recently reported genes that are being identified by next-generation sequencing approaches and online ‘matchmaking’ platforms. Syndromes mainly characterized by seizures and complex neurodevelopmental disorders comorbid with epilepsy are discussed as an example of the wide phenotypic spectrum associated with the AR epilepsies. We conclude with a foray into the future, from the application of whole-genome sequencing to identify elusive epilepsy variants, to the promise of precision medicine initiatives to provide novel targeted therapeutics specific to the individual based on their clinical genetic testing.

Original languageEnglish (US)
Pages (from-to)295-312
Number of pages18
JournalJournal of Neurogenetics
Issue number4
StatePublished - Oct 2 2018


  • Seizure
  • epilepsy
  • genetics
  • malformations of cortical development

ASJC Scopus subject areas

  • Genetics
  • Cellular and Molecular Neuroscience


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