Journal article

Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum

John A Damiano, Rosemary Burgess, Sara Kivity, Tally Lerman-Sagie, Zaid Afawi, Ingrid E Scheffer, Samuel F Berkovic, Michael S Hildebrand

EPILEPSIA | WILEY | Published : 2017


Synaptic proteins are critical to neuronal function in the brain, and their deficiency can lead to seizures and cognitive impairments. CNKSR2 (connector enhancer of KSR2) is a synaptic protein involved in Ras signaling-mediated neuronal proliferation, migration and differentiation. Mutations in the X-linked gene CNKSR2 have been described in patients with seizures and neurodevelopmental deficits, especially those affecting language. In this study, we sequenced 112 patients with phenotypes within the epilepsy-aphasia spectrum (EAS) to determine the frequency of CNKSR2 mutation within this complex set of disorders. We detected a novel nonsense mutation (c.2314 C>T; p.Arg712*) in one Ashkenazi ..

View full abstract


Awarded by National Health and Medical Research Council Program

Awarded by Practitioner Fellowship

Awarded by R.D. Wright Career Development Fellowship

Funding Acknowledgements

This study was supported by National Health and Medical Research Council Program Grant (628952) to S.F.B. and I.E.S., a Practitioner Fellowship (1006110) to I.E.S., and an R.D. Wright Career Development Fellowship (1063799) to M.S.H. We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.