SCN2A is the name of a gene that is commonly associated with early-onset epilepsy and is a leading genetic cause of autism spectrum disorder.

SCN2A is one of the genes most commonly associated with early-onset epilepsy, and has recently been linked to autism spectrum disorder and developmental delay. SCN2A encodes a neuronal voltage gated sodium channel, NaV1.2 that is primarily found in excitatory neurons throughout the brain.

SCN2A is a sodium ion channel gene located on chromosome 2. Sodium ion channels are proteins in cells that allow sodium to pass to the inside.

The SCN2A-related disorders are clinically heterogenous with features ranging from neonatal and infantile onset epilepsy, late onset epileptic encephalopathy, aut-ism spectrum disorder (ASD), and intellectual disability (ID).

There are many seizure disorders associated with SCN2A: Benign Familial Infantile Seizures (type 3), Early Infantile Epileptic Encephalopathy (type 11), Otahara, West Syndrome, Generalized Epilepsy with Febrile Seizures, Migrating Partial Epilepsy of Infancy (MPEI a.k.a. as MMPSI), Infantile Spasms, and Severe Epilepsies (starting either in ...

Sanders Lab Post Doc, Dr Joon An is determining the nature and function of the SCN2A mutation in ASD; SCN2A is a gene that encodes a sodium channel that is critical for communication between brain cells, and has been shown to be important for both ASD and infantile seizures.

Feb 24, 2023 · SCN2A encodes a voltage-gated sodium channel (NaV1.2) that is expressed widely in developing and mature brain. Pathogenic SCN2A variants are associated with childhood-onset epilepsy of varying severity as well as autism spectrum disorder (ASD) with or without accompanying seizures and nonsyndromic intellectual disability (ID) (5-8).

El SCN2A es un gen del canal de sodio situado en el cromosoma 2. Codifica la subunidad alfa de los canales de sodio activados por voltaje (Nav1.2), que se encuentra principalmente en el cerebro.

El SCN2A es un gen del canal de iones de sodio situado en el cromosoma 2. Codifica la subunidad alfa de los canales de sodio activados por voltaje (Nav1.2) localizados principalmente en el cerebro.

AUTISMO RELACIONADO CON EL SCN2A ¿EN QUÉ SE DIFERENCIA EL AUTISMO RELACIONADO CON EL SCN2A? El autismo relacionado con el SCN2A puede presentarse con o sin epilepsia. Actualmente no existe un fenotipo específico (o una presentación) que se observe con el autismo relacionado con el SCN2A.