Scn2a-flox Mouse

Scn2a, encoding the neuronal sodium channel NaV1.2, is crucial for action potential initiation and propagation in developing excitatory cortical neurons. It plays a role in multiple biological processes related to neural function, and its dysfunction is associated with various neurodevelopmental disorders [2,5].

Pathogenic variants in Scn2a are linked to a spectrum of neurodevelopmental disorders such as developmental and epileptic encephalopathies, benign familial neonatal-infantile seizures, episodic ataxia, and autism spectrum disorder with or without intellectual disability [1,2,3,4]. Functional analysis of channel defects has demonstrated a genotype-phenotype correlation [3]. In mice, loss of Scn2a-encoded NaV1.2 sodium channels in granule cells impaired high-frequency transmission to Purkinje cells and long-term potentiation, leading to hypersensitized vestibulo-ocular reflex, a sensorimotor reflex alteration seen in autism spectrum disorder [6].

In conclusion, Scn2a is essential for neural function, with its role in action potential regulation and synaptic plasticity. Studies on Scn2a, especially through loss-of-function models like in mice, have provided insights into its contribution to various neurodevelopmental disorders, highlighting its significance in understanding the underlying mechanisms of these diseases [6].