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ADGRV1 is implicated in myoclonic epilepsy.

Kenneth A Myers1, Steven Nasioulas2, Amber Boys3

  • 1Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Vic., Australia.

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PubMed
Summary

Genetic variations in ADGRV1 are linked to myoclonic epilepsy. Ultra-rare variants in ADGRV1 were significantly overrepresented in patients with epilepsy, suggesting a role in seizure development, potentially alongside MEF2C.

Keywords:
ADGRV1Frings mouseMEF2Cchromosome 5q deletion syndromemyoclonic epilepsy

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Area of Science:

  • Genetics
  • Neuroscience
  • Epilepsy Research

Background:

  • Myoclonic epilepsy is a severe neurological disorder.
  • The 5q14.3 chromosomal locus is implicated in epilepsy.
  • MEF2C and ADGRV1 are genes of interest at 5q14.3.

Purpose of the Study:

  • To investigate the role of genetic variations in ADGRV1, MEF2C, and other 5q14.3 genes in myoclonic epilepsy.
  • To analyze the significance of 5q14.3 deletions in epilepsy phenotypes.

Main Methods:

  • Studied epilepsy phenotypes in 4 individuals with 5q14.3 deletion.
  • Screened 6 contiguous genes (MEF2C, CETN3, MBLAC2, POLR3G, LYSMD3, ADGRV1) in 95 patients with epilepsy and myoclonic seizures.
  • Compared ultra-rare variant frequencies in patients versus the Genome Aggregation Database.

Main Results:

  • Six patients with myoclonic epilepsy had likely pathogenic ultra-rare ADGRV1 variants.
  • Ultra-rare ADGRV1 variants were significantly overrepresented in the epilepsy cohort compared to controls.
  • No definite pathogenic variants were identified in the other screened genes.

Conclusions:

  • ADGRV1 variation contributes to epilepsy with myoclonic seizures, though inheritance may be complex.
  • ADGRV1 haploinsufficiency likely contributes to seizures in 5q14.3 deletion syndrome.
  • Seizures in 5q14.3 deletion syndrome may result from haploinsufficiency of ADGRV1 and/or MEF2C.