Epilepsy is a common and serious neurologic disease with a strong genetic component.
Genetic studies have identified an increasing collection of disease-causing genes. The …

The voltage-gated sodium channel α-subunit genes comprise a highly conserved gene
family. Mutations of three of these genes, SCN1A, SCN2A and SCN8A, are responsible for a …

Autism spectrum disorder (ASD) is strongly associated with de novo gene mutations. One of
the most commonly affected genes is SCN2A. ASD-associated SCN2A mutations impair the …

Voltage-gated sodium channels initiate action potentials in nerve, skeletal muscle, and other
electrically excitable cells. Mutations in them cause a wide range of diseases. These …

Loss-of-function variants in the gene SCN2A, which encodes the sodium channel Na V 1.2,
are strongly associated with autism spectrum disorder and intellectual disability. An …

Mutations in the KCNA1 gene, which encodes voltage-gated Kv1. 1 potassium channel α-
subunits, cause a variety of human diseases, complicating simple genotype–phenotype …

Genetic variants in SCN2A, encoding the NaV1. 2 voltage-gated sodium channel, are
associated with a range of neurodevelopmental disorders with overlap** phenotypes …

Dysfunction in sodium channels and their ankyrin scaffolding partners have both been
implicated in neurodevelopmental disorders, including autism spectrum disorder (ASD). In …

The KCNA1 gene encodes Kv1. 1 voltage-gated potassium channel α subunits, which are
crucial for maintaining healthy neuronal firing and preventing hyperexcitability. Mutations in …

Sudden unexpected death in epilepsy (SUDEP) is the leading cause of epilepsy-related
mortality, but the precise cellular substrates involved remain elusive. Epilepsy-associated …