Epilepsy

Phene ID

617

Name

Epilepsy

Phene Name

including information about 'Idiopathic Epilepsy, IE'

OMIA ID

344

Species ID

9913

Characterised

Yes

Characterised Year

N/A

Jacinto et al. (2023) investigated a 6-month Holstein heifer with epilepsy: "Whole genome sequencing of the affected heifer identified a private heterozygous splice-site variant in DYRK1B (NM_001081515.1: c.-101-1G>A)... ." The authors "speculate that the identified variant in DYRK1B arose from a de novo mutation ...[and] may be the cause of the observed disease, although [DYRK1B] has not previously been associated with epilepsy in mammals, including humans. ... Further functional studies into DYRK1B's role in epilepsies are needed."

A DNA test for an autosomal recessive form of epilepsy in Hereford cattle (idiopathic Epilepsy, shaker calf (Rousseaux et al., 1985 ) has been developed by Dr Jon Beever, Department of Animal Sciences, University of Illinois, but inforamtion about the causal gene or variant have not been published.