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
DOI: 10.1111/epi.13666
Abstract
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 ..
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Grants
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.