Sodium channel protein type 2 subunit alpha
Definition:
References:
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[1]. Paolo Scalmani, et al. Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures. J Neurosci. 2006 Oct 4;26(40):10100-9. [Content Brief]
[2]. C M Ahmed, et al. Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain. Proc Natl Acad Sci U S A. 1992 Sep 1;89(17):8220-4. [Content Brief]
[3]. Géza Berecki, et al. Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy. Proc Natl Acad Sci U S A. 2018 Jun 12;115(24):E5516-E5525. [Content Brief]
[4]. Roy Ben-Shalom, et al. Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures. Biol Psychiatry. 2017 Aug 1;82(3):224-232. [Content Brief]
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