NAV1.1 Voltage-Gated Sodium Channel

A voltage-gated sodium channel subtype that is predominantly expressed in the CENTRAL NERVOUS SYSTEM. Defects in the SCN1A gene which codes for the alpha subunit of this sodium channel are associated with DRAVET SYNDROME, generalized epilepsy with febrile seizures plus, type 2 (GEFS+2), and familial hemiplegic migraine type 3.

Also Known As:

NAV1.1 alpha Subunit; SCN1A Sodium Channel alpha Subunit; Sodium Channel, Voltage-Gated, Type I, alpha Protein; Type 1 Voltage-Gated Sodium Channel; Voltage-Gated Sodium Channel Type 1; Voltage-Gated Sodium Channel Type 1 alpha Subunit; NAV1.1 Voltage Gated Sodium Channel; Type 1 Voltage Gated Sodium Channel; Voltage Gated Sodium Channel Type 1; Voltage Gated Sodium Channel Type 1 Subunit alpha; Voltage Gated Sodium Channel Type 1 alpha Subunit; alpha Subunit, NAV1.1; Voltage-Gated Sodium Channel Type 1 Subunit alpha

Networked: 9 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

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

Experts

1.	Ren, Qian: 1 article (01/2021)
2.	Shan, Wei: 1 article (01/2021)
3.	Wang, Qun: 1 article (01/2021)
4.	Yang, Xiaoling: 1 article (01/2021)
5.	Ess, Kevin C: 1 article (01/2020)
6.	Hampson, David R: 1 article (01/2020)
7.	Lee, Shiron J: 1 article (01/2020)
8.	Minassian, Berge A: 1 article (01/2020)
9.	Ng, Nathan N: 1 article (01/2020)
10.	Niibori, Yosuke: 1 article (01/2020)

Related Diseases

1.	Epilepsy (Aura) 01/01/2021 - "The SCN1A gene encodes the voltage-gated Na+ channel alpha subunit Nav1.1 and is the most clinically relevant epilepsy gene. " 01/01/2020 - "Over 1250 mutations in SCN1A, the Nav1.1 voltage-gated sodium channel gene, are associated with seizure disorders including GEFS+. To evaluate how a specific mutation, independent of genetic background, causes seizure activity we generated two pairs of isogenic human iPSC lines by CRISPR/Cas9 gene editing. " 01/01/2016 - "The SCN1A gene, coding for the voltage-gated Na+ channel alpha subunit NaV1.1, is the clinically most relevant epilepsy gene. " 01/01/2017 - "The Nav1.1 voltage-gated sodium channel is a critical contributor to excitability in the brain, where pathological loss of function leads to such disorders as epilepsy, Alzheimer's disease, and autism. " 11/01/2013 - "Severe myoclonic epilepsy of infancy (SMEI, also known as Dravet syndrome) and genetic epilepsy with febrile seizures plus (mild febrile seizures) can both arise due to mutations of SCN1A, the gene encoding alpha 1 pore-forming subunit of the Nav1.1 voltage-gated sodium channel. "
2.	Myoclonic Epilepsies (Myoclonic Encephalopathy) 04/01/2011 - "Most patients with Dravet syndrome have de novo mutations in the neuronal voltage-gated sodium channel type 1 (SCN1A) gene. " 01/01/2020 - "Dravet syndrome (DS) is a neurodevelopmental genetic disorder caused by mutations in the SCN1A gene encoding the α subunit of the NaV1.1 voltage-gated sodium channel that controls neuronal action potential firing. " 01/01/2019 - "Dravet syndrome (DS) is a disease that is primarily caused by the inactivation of the SCN1A-encoded voltage-gated sodium channel alpha subunit (Nav1.1). " 11/01/2013 - "Severe myoclonic epilepsy of infancy (SMEI, also known as Dravet syndrome) and genetic epilepsy with febrile seizures plus (mild febrile seizures) can both arise due to mutations of SCN1A, the gene encoding alpha 1 pore-forming subunit of the Nav1.1 voltage-gated sodium channel. "
3.	Inborn Genetic Diseases (Disease, Hereditary) 01/01/2020 - "Dravet syndrome (DS) is a neurodevelopmental genetic disorder caused by mutations in the SCN1A gene encoding the α subunit of the NaV1.1 voltage-gated sodium channel that controls neuronal action potential firing. "
4.	Febrile Seizures (Febrile Seizure) 11/01/2013 - "Severe myoclonic epilepsy of infancy (SMEI, also known as Dravet syndrome) and genetic epilepsy with febrile seizures plus (mild febrile seizures) can both arise due to mutations of SCN1A, the gene encoding alpha 1 pore-forming subunit of the Nav1.1 voltage-gated sodium channel. "
5.	Autistic Disorder (Autism) 01/01/2017 - "The Nav1.1 voltage-gated sodium channel is a critical contributor to excitability in the brain, where pathological loss of function leads to such disorders as epilepsy, Alzheimer's disease, and autism. "

Related Drugs and Biologics

1.	Voltage-Gated Sodium Channels