[HTML][HTML] Opposing effects on NaV1. 2 function underlie differences between SCN2A variants observed in individuals with autism spectrum disorder or infantile seizures
R Ben-Shalom, CM Keeshen, KN Berrios, JY An… - Biological …, 2017 - Elsevier
Background Variants in the SCN2A gene that disrupt the encoded neuronal sodium channel
Na V 1.2 are important risk factors for autism spectrum disorder (ASD), developmental delay,
and infantile seizures. Variants observed in infantile seizures are predominantly missense,
leading to a gain of function and increased neuronal excitability. How variants associated
with ASD affect Na V 1.2 function and neuronal excitability are unclear. Methods We
examined the properties of 11 ASD-associated SCN2A variants in heterologous expression …
Na V 1.2 are important risk factors for autism spectrum disorder (ASD), developmental delay,
and infantile seizures. Variants observed in infantile seizures are predominantly missense,
leading to a gain of function and increased neuronal excitability. How variants associated
with ASD affect Na V 1.2 function and neuronal excitability are unclear. Methods We
examined the properties of 11 ASD-associated SCN2A variants in heterologous expression …
