NAV1.2 Voltage-Gated Sodium Channel

A voltage-gated sodium channel subtype that mediates the sodium ion permeability of excitable membranes. Defects in the SCN2A gene which codes for the alpha subunit of this sodium channel are associated with benign familial infantile seizures type 3, and early infantile epileptic encephalopathy type 11.

Also Known As:

NAV1.2 alpha Subunit; SCN2A Sodium Channel alpha Subunit; Sodium Channel Protein Type 2 Subunit alpha; Sodium Channel, Voltage-Gated, Type II, alpha 1; Sodium Channel, Voltage-Gated, Type II, alpha 1 Subunit; Type 2 Voltage-Gated Sodium Channel; Voltage-Gated Sodium Channel Type 2; Voltage-Gated Sodium Channel Type 2 alpha Subunit; NAV1.2 Voltage Gated Sodium Channel; Type 2 Voltage Gated Sodium Channel; Voltage Gated Sodium Channel Type 2; Voltage Gated Sodium Channel Type 2 Subunit alpha; Voltage Gated Sodium Channel Type 2 alpha Subunit; Voltage-Gated Sodium Channel Type 2 Subunit alpha

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Amino Acids, Peptides, and Proteins: 1
- Proteins: 484843

Experts

1.	Ben-Shalom, Roy: 1 article (01/2022)
2.	Bender, Kevin J: 1 article (01/2022)
3.	Echevarria-Cooper, Dennis M: 1 article (01/2022)
4.	George, Alfred L: 1 article (01/2022)
5.	Hawkins, Nicole A: 1 article (01/2022)
6.	Huffman, Alexandra M: 1 article (01/2022)
7.	Kearney, Jennifer A: 1 article (01/2022)
8.	Lipkin, Anna M: 1 article (01/2022)
9.	Misra, Sunita N: 1 article (01/2022)
10.	Nelson, Andrew D: 1 article (01/2022)

Related Diseases

1.	Neurodevelopmental Disorders 01/01/2022 - "Genetic variants in SCN2A, encoding the NaV1.2 voltage-gated sodium channel, are associated with a range of neurodevelopmental disorders with overlapping phenotypes. "
2.	Intellectual Disability (Idiocy) 01/01/2019 - "Deleterious variants in the voltage-gated sodium channel type 2 (Nav1.2) lead to a broad spectrum of phenotypes ranging from benign familial neonatal-infantile epilepsy (BFNIE), severe developmental and epileptic encephalopathy (DEE) and intellectual disability (ID) to autism spectrum disorders (ASD). "
3.	Epilepsy (Aura) 01/01/2019 - "Deleterious variants in the voltage-gated sodium channel type 2 (Nav1.2) lead to a broad spectrum of phenotypes ranging from benign familial neonatal-infantile epilepsy (BFNIE), severe developmental and epileptic encephalopathy (DEE) and intellectual disability (ID) to autism spectrum disorders (ASD). "
4.	Brain Diseases (Brain Disorder) 01/01/2019 - "Deleterious variants in the voltage-gated sodium channel type 2 (Nav1.2) lead to a broad spectrum of phenotypes ranging from benign familial neonatal-infantile epilepsy (BFNIE), severe developmental and epileptic encephalopathy (DEE) and intellectual disability (ID) to autism spectrum disorders (ASD). "
5.	Autism Spectrum Disorder 01/01/2019 - "Deleterious variants in the voltage-gated sodium channel type 2 (Nav1.2) lead to a broad spectrum of phenotypes ranging from benign familial neonatal-infantile epilepsy (BFNIE), severe developmental and epileptic encephalopathy (DEE) and intellectual disability (ID) to autism spectrum disorders (ASD). "