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

JA Damiano; R Burgess; S Kivity; T Lerman-Sagie; Z Afawi; IE Scheffer; SF Berkovic; MS Hildebrand

Journal article

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

JA Damiano, R Burgess, S Kivity, T Lerman-Sagie, Z Afawi, IE Scheffer, SF Berkovic, MS Hildebrand

Epilepsia | WILEY | Published : 2017

DOI: 10.1111/epi.13666

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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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University of Melbourne Researchers

Ingrid Scheffer Author

Sam Berkovic Author

Michael Hildebrand Author

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Grants

Awarded by National Health and Medical Research Council

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.