Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties

Pathogenic variants in voltage-gated sodium (NaV) channel genes including SCN2A, encoding NaV1.2, are discovered frequently in neurodevelopmental disorders with or without epilepsy. SCN2A is also a high-confidence risk gene for autism spectrum disorder (ASD) and nonsyndromic intellectual disability...

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Veröffentlicht in:	The Journal of general physiology 2023-10, Vol.155 (10), p.1
Hauptverfasser:	Thompson, Christopher H, Potet, Franck, Abramova, Tatiana V, DeKeyser, Jean-Marc, Ghabra, Nora F, Vanoye, Carlos G, Millichap, John J, George, Alfred L
Format:	Artikel
Sprache:	eng
Schlagworte:	Alternative splicing Autism Autism Spectrum Disorder - genetics Automation Biophysics Channel gating Epilepsy Epilepsy - genetics HEK293 Cells Humans Intellectual disabilities Isoforms Molecular Physiology NAV1.2 Voltage-Gated Sodium Channel - genetics Neonates Neurodevelopmental disorders Neurodevelopmental Disorders - genetics Pathophysiology Phenotype Sodium channels (voltage-gated) Standardization
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