Role of KCNQ2 and KCNQ3 genes in juvenile idiopathic epilepsy in Arabian foals

Anat Lichter-Peled, Sagi Polani, Roscoe Stanyon, Mariano Rocchi, Gila Kahila Bar-Gal*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

Abstract

Juvenile idiopathic epilepsy (JIE) in Arabian foals resembles benign-familial neonatal convulsion (BFNC) syndrome, a rare idiopathic epilepsy of new-born humans. BFNC syndrome exhibits genetic heterogeneity, as has been hypothesised to occur in Arabian foals, and is known to be caused by mutations in the voltage-gated potassium channel subunit KCNQ2 and KCNQ3 genes. The close phenotypic characteristics of both Arabian foals and children suggest these epileptic syndromes are caused by the same genetic disorder. In horses, the KCNQ2 and KCNQ3 genes are located on the terminal region of chromosomes 22 and 9, respectively, essentially homologous to their location on chromosomes 20q13.3 and 8q24 in humans.Gene trees for the KCNQ2 and KCNQ3 genes between horses and other mammals, particularly humans and mice, were constructed and compared to widely accepted mammalian phylogenetic trees. The KCNQ2 gene tree exhibited close clustering between horses and humans, relative to horses and mice, in contrast to the evolutionary trees of other mammals. Distance values between the horse and human groups were lower as opposed to those found between the horse and mouse groups. The similarity between the horse and the human, especially for the KCNQ2 gene, where the majority of mutations causing BFNC have been found, supports the hypothesis of similar heritable and genetic patterns of the disease in both species and suggests that contrary to the classic mouse-model concept, humans may be a more suitable model for the study of JIE in Arabian foals.

Original languageAmerican English
Pages (from-to)57-63
Number of pages7
JournalVeterinary Journal
Volume196
Issue number1
DOIs
StatePublished - Apr 2013

Bibliographical note

Funding Information:
We would like to thank Professor A. Oppenheim for her critical reading of this manuscript. This study was funded by the Israel Science Foundation ( Grant No. 1365/10 ).

Keywords

  • Benign-familial neonatal convulsion syndrome
  • Horse
  • Juvenile idiopathic epilepsy
  • KCNQ genes

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