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Article

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

Epilepsia - 1 Mar 2017

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

Abstract excerpt

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...

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Identifiers

PMID: 28098945
DOI: 10.1111/epi.13666

Genes

KSR2

Variants

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