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Article

Cacna1g is a genetic modifier of epilepsy caused by mutation of voltage-gated sodium channel Scn2a.

Epilepsia - 1 Jun 2016

Calhoun Jeffrey D, Hawkins Nicole A, Zachwieja Nicole J, Kearney Jennifer A

Abstract excerpt

More than 1,200 mutations in neuronal voltage-gated sodium channel (VGSC) genes have been identified in patients with several epilepsy syndromes. A common feature of genetic epilepsies is variable expressivity among individuals with the same mutation. The Scn2a(Q54) transgenic mouse model has a mutation in Scn2a that results in spontaneous epilepsy. Scn2a(Q54) phenotype severity varies depending on the genetic...

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Identifiers

PMID: 27112236
DOI: 10.1111/epi.13390
PMCID: PMC4985168

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