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Target intelligence / Profile preview
Voltage-gated sodium channel protein type 1 subunit alpha (SCN1A)
- Target
- SCN1A
- Molecular classification
- Ion channel, Voltage-gated ion channel, Sodium channel
01
Overview
SCN1A encodes the alpha subunit of the NaV1.1 voltage-gated sodium channel, which is critical for action potential generation and propagation in neurons. Mutations in SCN1A are associated with a spectrum of neurological disorders, particularly epilepsy syndromes, due to the channel's central role in regulating neuronal excitability. These mutations can cause either loss-of-function (e.g., Dravet syndrome) or gain-of-function (e.g., familial hemiplegic migraine) effects.
- Other names
- NaV1.1Sodium channel protein type 1 subunit alpha
02
Mechanism of action
Blockade of voltage-gated sodium channels, preventing sodium influx and reducing neuronal excitability; modulation of channel kinetics (opening/closing rates)
03
Biological functions
Action potential generationNeuronal excitability regulationNeurotransmitter releaseSodium ion transport
04
Disease associations
EpilepsyDravet syndromeGenetic epilepsy with febrile seizures plus (GEFS+)Familial hemiplegic migraineEarly infantile developmental encephalopathy w/ movement disorder
05
Safety considerations
Drug resistanceExacerbation of seizuresCardiac arrhythmias (rare)Neurological side effects
06
Interacting drugs
Antiepileptic drugs (e.g., sodium channel blockers)
07
Biomarkers
SCN1A mutations (for diagnosis and risk stratification)Seizure frequencyEEG patterns
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