SCN1A Gene

The SCN1A gene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.1. These channels are primarily found in the brain, where they control the flow of sodium ions into cells. NaV1.1 channels are involved in transmitting signals from one nerve cell (neuron) to another. Communication between neurons depends on chemicals called neurotransmitters, which are released from one neuron and taken up by neighboring neurons. The flow of sodium ions through NaV1.1 channels helps determine when neurotransmitters will be released.

• Publication year

  2020

• Venue

  Definitions

• Publication date

  2020-02-02

• Fields of study

  Not labeled

• Identifiers
  DOI 10.32388/4oio6n
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• Nav1.1 dysfunction in genetic epilepsy with febrile seizures‐plus or Dravet syndrome

  2011cited by this paper
• Altered Function of the SCN1A Voltage-gated Sodium Channel Leads to γ-Aminobutyric Acid-ergic (GABAergic) Interneuron Abnormalities*

  2010cited by this paper
• Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3.

  2007cited by this paper
• The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies

  2007cited by this paper
• Mini review Na channel gene mutations in epilepsy—The functional consequences

  2006cited by this paper
• A common polymorphism in the SCN1A gene associates with phenytoin serum levels at maintenance dose

  2006cited by this paper
• Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies.

  2006cited by this paper
• Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin.

  2005cited by this paper
• Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine.

  2005cited by this paper
• SCN1A mutations and epilepsy

  2005cited by this paper
• Functional Effects of Two Voltage-Gated Sodium Channel Mutations That Cause Generalized Epilepsy with Febrile Seizures Plus Type 2

  2001cited by this paper
• Familial hemiplegic migraine.

  1955cited by this paper

• The potential implication of MDR1 and NAC1 genetic polymorphisms on resistance to antiepileptic drugs among a Jordanian epileptic population: a cross-sectional study

  2023cites this paper
• Of Newts and Neurotoxins: Coevolution in a Predator-Prey System Provides a Multifaceted Backdrop for Engaging Students

  2022cites this paper
• Disordered breathing in a mouse model of Dravet syndrome

  2018influential citation