Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

Copy number variants (CNVs) are genomic imbalances strongly linked to the aetiology of
neuropsychiatric disorders such as schizophrenia and autism. By virtue of their large size …

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 …

With the wide adoption of genomic sequencing in children having seizures, an increasing
number of SCN2A genetic variants have been revealed as genetic causes of epilepsy …

In SCN2A-related disorders, there is an urgent demand to establish efficient methods for
determining the gain-(GoF) or loss-of-function (LoF) character of variants, to identify suitable …

Pathogenic heterozygous variants in SCN2A, which encodes the neuronal sodium channel
Na V 1.2, cause different types of epilepsy or intellectual disability (ID)/autism without …

Autism spectrum disorder (ASD) is a major neurodevelopmental disorder affecting 1 in 36
children in the United States. While neurons have been the focus of understanding ASD, an …

Pathogenic variants in voltage-gated sodium (Na V) channel genes including SCN2A,
encoding Na V 1.2, are discovered frequently in neurodevelopmental disorders with or …

Autism spectrum disorder (ASD) affects~ 2% of the population in the US, and monogenic
forms of ASD often result in the most severe manifestation of the disorder. Recently, SCN2A …

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