Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/19109
Title: Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum.
Austin Authors: Damiano, John A;Burgess, Rosemary;Kivity, Sara;Lerman-Sagie, Tally;Afawi, Zaid;Scheffer, Ingrid E ;Berkovic, Samuel F ;Hildebrand, Michael S 
Affiliation: Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Parkville, Victoria, Australia
Department of Medicine, Epilepsy Research Centre, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Department of Pediatric Neurology and Epilepsy Center, Schneider Children's Medical Center of Israel, Petah Tiqva, Israel
Pediatric Neurology Unit, Epilepsy Clinic, Wolfson Medical Center, Holon, Israel..
Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel..
Issue Date: Mar-2017
metadata.dc.date: 2017-01-18
Publication information: Epilepsia 2017; 58(3): e40-e43
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 Jewish family, the male proband of which had a severe epileptic encephalopathy with continuous spike-waves in sleep (ECSWS). His affected brother also had ECSWS with better outcome, whereas the sister had childhood epilepsy with centrotemporal spikes. This mutation segregated in the three affected siblings in an X-linked manner, inherited from their mother who had febrile seizures. Although the frequency of point mutation is low, CNKSR2 sequencing should be considered in families with suspected X-linked EAS because of the specific genetic counseling implications.
URI: http://ahro.austin.org.au/austinjspui/handle/1/19109
DOI: 10.1111/epi.13666
ORCID: 0000-0002-2664-4395
0000-0002-2311-2174
0000-0003-4580-841X
0000-0003-2739-0515
PubMed URL: 28098945
Type: Journal Article
Subjects: CNKSR2
Developmental delay
Epilepsy-aphasia spectrum
Sanger sequencing
Speech delay
Appears in Collections:Journal articles

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