Details for: SCN1A

Gene ID: 6323

Symbol: SCN1A

Ensembl ID: ENSG00000144285

Description: sodium voltage-gated channel alpha subunit 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 3.9066
    Cell Significance Index: 172.8000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 3.3718
    Cell Significance Index: 127.6800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 2.9949
    Cell Significance Index: 201.3800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.8760
    Cell Significance Index: 1031.5800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 2.7316
    Cell Significance Index: 77.9500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.5533
    Cell Significance Index: 512.1900
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 2.1791
    Cell Significance Index: 28.2600
  • Cell Name: chandelier cell (CL4023083)
    Fold Change: 2.0101
    Cell Significance Index: 16.2300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.4891
    Cell Significance Index: 91.5300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.7305
    Cell Significance Index: 17.5200
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.5702
    Cell Significance Index: 7.1100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.4083
    Cell Significance Index: 8.9400
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.3737
    Cell Significance Index: 3.0900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3477
    Cell Significance Index: 69.0100
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 0.2984
    Cell Significance Index: 3.9800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.2247
    Cell Significance Index: 3.8500
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: 0.1149
    Cell Significance Index: 1.4500
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.0331
    Cell Significance Index: 0.6600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0172
    Cell Significance Index: -31.6600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0202
    Cell Significance Index: -38.0100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0220
    Cell Significance Index: -33.8900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0257
    Cell Significance Index: -34.9700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0291
    Cell Significance Index: -22.0400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0462
    Cell Significance Index: -0.9800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0515
    Cell Significance Index: -37.7800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0578
    Cell Significance Index: -36.7200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0657
    Cell Significance Index: -48.6600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0782
    Cell Significance Index: -48.8400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0820
    Cell Significance Index: -37.2300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0860
    Cell Significance Index: -46.9400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0913
    Cell Significance Index: -51.4700
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.1272
    Cell Significance Index: -1.2100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1298
    Cell Significance Index: -37.3400
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1340
    Cell Significance Index: -2.9000
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1395
    Cell Significance Index: -2.8000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1721
    Cell Significance Index: -2.4700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.2031
    Cell Significance Index: -36.6100
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.2130
    Cell Significance Index: -5.1600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2221
    Cell Significance Index: -5.7100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2319
    Cell Significance Index: -48.8400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2393
    Cell Significance Index: -34.7800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.2579
    Cell Significance Index: -44.0400
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.2606
    Cell Significance Index: -3.0400
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.3019
    Cell Significance Index: -3.6100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.3042
    Cell Significance Index: -37.4100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.3367
    Cell Significance Index: -9.4100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.3420
    Cell Significance Index: -46.9700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3638
    Cell Significance Index: -27.9200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.3910
    Cell Significance Index: -45.5700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.4300
    Cell Significance Index: -49.2600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4377
    Cell Significance Index: -45.5800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4474
    Cell Significance Index: -14.2500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.4569
    Cell Significance Index: -23.9900
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.4626
    Cell Significance Index: -4.3900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4831
    Cell Significance Index: -38.2600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.4847
    Cell Significance Index: -27.2000
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.6017
    Cell Significance Index: -15.0100
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.6025
    Cell Significance Index: -12.5800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.6341
    Cell Significance Index: -22.2200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.6991
    Cell Significance Index: -22.8900
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.7006
    Cell Significance Index: -6.0600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.7133
    Cell Significance Index: -46.0200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.7220
    Cell Significance Index: -37.6100
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.7568
    Cell Significance Index: -8.2500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.8201
    Cell Significance Index: -38.5500
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.8760
    Cell Significance Index: -38.0900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.9262
    Cell Significance Index: -41.9800
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.9401
    Cell Significance Index: -34.5100
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.9603
    Cell Significance Index: -12.8000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.9915
    Cell Significance Index: -46.2300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.9991
    Cell Significance Index: -51.9000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -1.0669
    Cell Significance Index: -37.4900
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -1.0872
    Cell Significance Index: -8.3800
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -1.0878
    Cell Significance Index: -21.4100
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -1.1989
    Cell Significance Index: -37.9200
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: -1.2231
    Cell Significance Index: -13.5000
  • Cell Name: peg cell (CL4033014)
    Fold Change: -1.2515
    Cell Significance Index: -28.9200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -1.2588
    Cell Significance Index: -33.7300
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -1.2696
    Cell Significance Index: -15.3900
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -1.2813
    Cell Significance Index: -25.5500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -1.2988
    Cell Significance Index: -37.4200
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -1.3175
    Cell Significance Index: -16.6300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.3176
    Cell Significance Index: -38.8100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -1.4212
    Cell Significance Index: -40.7400
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: -1.4309
    Cell Significance Index: -18.6800
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -1.4371
    Cell Significance Index: -14.9700
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -1.5093
    Cell Significance Index: -18.7200
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -1.5234
    Cell Significance Index: -26.3400
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -1.5453
    Cell Significance Index: -10.4700
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -1.5623
    Cell Significance Index: -38.9600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -1.5970
    Cell Significance Index: -43.4700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -1.6018
    Cell Significance Index: -42.1200
  • Cell Name: invaginating midget bipolar cell (CL4033034)
    Fold Change: -1.6026
    Cell Significance Index: -19.7800
  • Cell Name: interneuron (CL0000099)
    Fold Change: -1.6112
    Cell Significance Index: -18.8200
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -1.6498
    Cell Significance Index: -33.5700
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -1.6709
    Cell Significance Index: -40.7700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -1.6763
    Cell Significance Index: -44.7600
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -1.6905
    Cell Significance Index: -43.0700
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -1.7116
    Cell Significance Index: -42.7500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -1.7706
    Cell Significance Index: -36.7300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Voltage-gated sodium channels**: SCN1A is a subunit of voltage-gated sodium channels, which are essential for the generation and propagation of action potentials in neurons. 2. **Highly expressed in neurons**: SCN1A is highly expressed in various neuronal cell types, including GABAergic cortical interneurons, oligodendrocyte precursor cells, and retinal cone cells. 3. **Critical for neural communication**: SCN1A plays a crucial role in the transmission of electrical signals in neurons, enabling the propagation of action potentials. 4. **Implicated in neurological disorders**: Mutations in the SCN1A gene have been implicated in several neurological disorders, including epilepsy, seizures, and neurodevelopmental disorders. **Pathways and Functions** 1. **Neuronal action potential generation**: SCN1A is essential for the generation of action potentials in neurons, which are the fundamental events underlying neural communication. 2. **Neuronal action potential propagation**: SCN1A plays a crucial role in the propagation of action potentials along the length of neurons, enabling the transmission of electrical signals. 3. **Sensory perception of pain**: SCN1A is involved in the detection of mechanical stimuli, which are essential for the sensory perception of pain. 4. **Muscle contraction**: SCN1A is also expressed in muscle cells, where it plays a role in the regulation of muscle contraction. 5. **Neuronal development**: SCN1A is involved in the development of neurons, including the establishment of localization in cell and the regulation of presynaptic membrane potential. **Clinical Significance** 1. **Epilepsy and seizures**: Mutations in the SCN1A gene have been implicated in several forms of epilepsy, including generalized epilepsy with febrile seizures during infancy (GEFS+). 2. **Neurodevelopmental disorders**: SCN1A mutations have also been associated with neurodevelopmental disorders, including intellectual disability and autism spectrum disorder. 3. **Muscle disorders**: SCN1A mutations have been implicated in muscle disorders, including myotonia congenita and congenital myasthenic syndrome. 4. **Pain perception**: SCN1A mutations have also been associated with altered pain perception, including hyperalgesia and allodynia. In conclusion, the SCN1A gene plays a critical role in the transmission of electrical signals in neurons, enabling the generation and propagation of action potentials. Mutations in the SCN1A gene have been implicated in several neurological disorders, including epilepsy, seizures, and neurodevelopmental disorders, highlighting the importance of this gene in maintaining normal neural function.

Genular Protein ID: 201923013

Symbol: SCN1A_HUMAN

Name: Sodium channel protein type 1 subunit alpha

UniProtKB Accession Codes:

P35498 E9PG49 Q16172 Q585T7 Q8IUJ6 Q96LA3 Q9C008

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CTD 1 ChEBI 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 4 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 25 DrugCentral 1 EMBL 9 EMDB 1 Ensembl 6 ExpressionAtlas 1 GO 24 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 11 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 6 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 2 PRINTS 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 2 RefSeq 15 Rhea 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 10742094

Title: Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

PubMed ID: 10742094

DOI: 10.1038/74159

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 8062593

Title: Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24.

PubMed ID: 8062593

DOI: 10.1159/000133818

PubMed ID: 1317301

Title: Differential expression of two sodium channel subtypes in human brain.

PubMed ID: 1317301

DOI: 10.1016/0014-5793(92)80476-w

PubMed ID: 21566136

Title: Identification of novel interaction sites that determine specificity between fibroblast growth factor homologous factors and voltage-gated sodium channels.

PubMed ID: 21566136

DOI: 10.1074/jbc.m111.245803

PubMed ID: 24497506

Title: A disulfide tether stabilizes the block of sodium channels by the conotoxin muO[section sign]-GVIIJ.

PubMed ID: 24497506

DOI: 10.1073/pnas.1324189111

PubMed ID: 28428547

Title: The tarantula toxin beta/delta-TRTX-Pre1a highlights the importance of the S1-S2 voltage-sensor region for sodium channel subtype selectivity.

PubMed ID: 28428547

DOI: 10.1038/s41598-017-01129-0

PubMed ID: 37117223

Title: Pain-causing stinging nettle toxins target TMEM233 to modulate NaV1.7 function.

PubMed ID: 37117223

DOI: 10.1038/s41467-023-37963-2

PubMed ID: 11254444

Title: Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

PubMed ID: 11254444

DOI: 10.1086/319516

PubMed ID: 11254445

Title: A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus -- and prevalence of variants in patients with epilepsy.

PubMed ID: 11254445

DOI: 10.1086/319524

PubMed ID: 11359211

Title: De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

PubMed ID: 11359211

DOI: 10.1086/320609

PubMed ID: 11524484

Title: Na(v)1.1 mutations cause febrile seizures associated with afebrile partial seizures.

PubMed ID: 11524484

DOI: 10.1212/wnl.57.4.703

PubMed ID: 11756608

Title: Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation.

PubMed ID: 11756608

DOI: 10.1212/wnl.57.12.2265

PubMed ID: 12083760

Title: Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.

PubMed ID: 12083760

DOI: 10.1016/s0006-291x(02)00617-4

PubMed ID: 12566275

Title: Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.

PubMed ID: 12566275

DOI: 10.1093/brain/awg053

PubMed ID: 12919402

Title: Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus.

PubMed ID: 12919402

DOI: 10.1046/j.1528-1157.2003.22503.x

PubMed ID: 12576172

Title: Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).

PubMed ID: 12576172

DOI: 10.1016/s0920-1211(02)00259-0

PubMed ID: 12754708

Title: De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.

PubMed ID: 12754708

DOI: 10.1002/humu.10217

PubMed ID: 14672992

Title: Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.

PubMed ID: 14672992

DOI: 10.1523/jneurosci.23-36-11289.2003

PubMed ID: 12610651

Title: Sodium channels SCN1A, SCN2A and SCN3A in familial autism.

PubMed ID: 12610651

DOI: 10.1038/sj.mp.4001241

PubMed ID: 12821740

Title: Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

PubMed ID: 12821740

DOI: 10.1212/01.wnl.0000069463.41870.2f

PubMed ID: 14504318

Title: Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

PubMed ID: 14504318

DOI: 10.1212/01.wnl.0000086379.71183.78

PubMed ID: 12535936

Title: Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels.

PubMed ID: 12535936

DOI: 10.1016/s0306-4522(02)00698-x

PubMed ID: 14738421

Title: Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).

PubMed ID: 14738421

DOI: 10.1111/j.0013-9580.2004.15103.x

PubMed ID: 15525788

Title: A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.

PubMed ID: 15525788

DOI: 10.1523/jneurosci.2034-04.2004

PubMed ID: 15087100

Title: Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.

PubMed ID: 15087100

DOI: 10.1016/j.pediatrneurol.2003.10.012

PubMed ID: 16122630

Title: A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.

PubMed ID: 16122630

DOI: 10.1016/j.braindev.2004.11.005

PubMed ID: 15715999

Title: A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures.

PubMed ID: 15715999

DOI: 10.1016/j.eplepsyres.2004.11.005

PubMed ID: 16210358

Title: Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.

PubMed ID: 16210358

DOI: 10.1113/jphysiol.2005.094326

PubMed ID: 16054936

Title: Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine.

PubMed ID: 16054936

DOI: 10.1016/s0140-6736(05)66786-4

PubMed ID: 15944908

Title: SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures.

PubMed ID: 15944908

DOI: 10.1055/s-2005-865607

PubMed ID: 16326807

Title: Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures.

PubMed ID: 16326807

DOI: 10.1073/pnas.0506818102

PubMed ID: 15694566

Title: A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree.

PubMed ID: 15694566

DOI: 10.1016/j.seizure.2004.12.007

PubMed ID: 17129991

Title: Epilepsy with a de novo missense mutation in the sodium channel a1 subunit: a case report.

PubMed ID: 17129991

DOI: 10.1080/08035250600778628

PubMed ID: 17054684

Title: Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.

PubMed ID: 17054684

DOI: 10.1111/j.1528-1167.2006.00641.x

PubMed ID: 17054685

Title: Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.

PubMed ID: 17054685

DOI: 10.1111/j.1528-1167.2006.00643.x

PubMed ID: 16525050

Title: An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability.

PubMed ID: 16525050

DOI: 10.1523/jneurosci.2977-05.2006

PubMed ID: 16713920

Title: De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.

PubMed ID: 16713920

DOI: 10.1016/s1474-4422(06)70446-x

PubMed ID: 16458823

Title: Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy.

PubMed ID: 16458823

DOI: 10.1016/j.pediatrneurol.2005.07.009

PubMed ID: 17347258

Title: The spectrum of SCN1A-related infantile epileptic encephalopathies.

PubMed ID: 17347258

DOI: 10.1093/brain/awm002

PubMed ID: 17561957

Title: Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

PubMed ID: 17561957

DOI: 10.1111/j.1528-1167.2007.01122.x

PubMed ID: 17507202

Title: Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.

PubMed ID: 17507202

DOI: 10.1016/j.eplepsyres.2007.03.018

PubMed ID: 17397047

Title: The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online.

PubMed ID: 17397047

DOI: 10.1002/humu.9486

PubMed ID: 17928445

Title: Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant.

PubMed ID: 17928445

DOI: 10.1523/jneurosci.3515-07.2007

PubMed ID: 17679682

Title: SCN1A mutation associated with atypical Panayiotopoulos syndrome.

PubMed ID: 17679682

DOI: 10.1212/01.wnl.0000266666.10404.53

PubMed ID: 18330841

Title: Focal epilepsy resulting from a de novo SCN1A mutation.

PubMed ID: 18330841

DOI: 10.1055/s-2008-1062703

PubMed ID: 18021921

Title: Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3.

PubMed ID: 18021921

DOI: 10.1016/j.pediatrneurol.2007.06.016

PubMed ID: 17927801

Title: Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+.

PubMed ID: 17927801

DOI: 10.1111/j.1600-0404.2007.00941.x

PubMed ID: 18413471

Title: Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.

PubMed ID: 18413471

DOI: 10.1001/archneur.65.4.489

PubMed ID: 18251839

Title: Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation.

PubMed ID: 18251839

DOI: 10.1111/j.1528-1167.2007.01439_2.x

PubMed ID: 18031552

Title: Rasmussen encephalitis associated with SCN 1 A mutation.

PubMed ID: 18031552

DOI: 10.1111/j.1528-1167.2007.01411.x

PubMed ID: 18566737

Title: SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus.

PubMed ID: 18566737

DOI: 10.1007/s10038-008-0306-y

PubMed ID: 18639757

Title: Monozygotic twins with severe myoclonic epilepsy in infancy discordant for clinical features.

PubMed ID: 18639757

DOI: 10.1016/j.pediatrneurol.2008.04.003

PubMed ID: 19694741

Title: Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population.

PubMed ID: 19694741

DOI: 10.1111/j.1365-2125.2009.03437.x

PubMed ID: 19783390

Title: Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.

PubMed ID: 19783390

DOI: 10.1016/j.braindev.2009.08.009

PubMed ID: 19522081

Title: Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.

PubMed ID: 19522081

DOI: 10.1111/j.1399-0004.2009.01155.x

PubMed ID: 19339291

Title: A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.

PubMed ID: 19339291

DOI: 10.1177/0883073808324537

PubMed ID: 18930999

Title: Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.

PubMed ID: 18930999

DOI: 10.1136/jmg.2008.062323

PubMed ID: 19332696

Title: Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations.

PubMed ID: 19332696

DOI: 10.1212/01.wnl.0000345393.53132.8c

PubMed ID: 19464195

Title: Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A.

PubMed ID: 19464195

DOI: 10.1016/j.seizure.2009.04.009

PubMed ID: 20682179

Title: Two novel mutations in SCN1A gene in Iranian patients with epilepsy.

PubMed ID: 20682179

DOI: 10.1016/j.arcmed.2010.04.007

PubMed ID: 20550552

Title: Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1.

PubMed ID: 20550552

DOI: 10.1111/j.1528-1167.2010.02645.x

PubMed ID: 20452746

Title: Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients.

PubMed ID: 20452746

DOI: 10.1016/j.eplepsyres.2010.04.003

PubMed ID: 20392657

Title: Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation.

PubMed ID: 20392657

DOI: 10.1016/j.ejpn.2010.03.002

PubMed ID: 20110217

Title: Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI).

PubMed ID: 20110217

DOI: 10.1177/0883073809357241

PubMed ID: 20729507

Title: Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).

PubMed ID: 20729507

DOI: 10.1177/0883073810365737

PubMed ID: 20431604

Title: Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.

PubMed ID: 20431604

DOI: 10.1038/jhg.2010.39

PubMed ID: 19589774

Title: De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.

PubMed ID: 19589774

DOI: 10.1136/jmg.2008.065912

PubMed ID: 20522430

Title: Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.

PubMed ID: 20522430

DOI: 10.1136/jmg.2009.074328

PubMed ID: 20600615

Title: Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.

PubMed ID: 20600615

DOI: 10.1016/j.neulet.2010.06.040

PubMed ID: 19563458

Title: Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy.

PubMed ID: 19563458

DOI: 10.1111/j.1442-200x.2009.02916.x

PubMed ID: 20117752

Title: Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.

PubMed ID: 20117752

DOI: 10.1016/j.pediatrneurol.2009.09.007

PubMed ID: 21555645

Title: Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy.

PubMed ID: 21555645

DOI: 10.1001/archneurol.2011.98

PubMed ID: 21864321

Title: Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

PubMed ID: 21864321

DOI: 10.1111/j.1460-9568.2011.07826.x

PubMed ID: 21248271

Title: Genotype-phenotype associations in SCN1A-related epilepsies.

PubMed ID: 21248271

DOI: 10.1212/wnl.0b013e31820c309b

PubMed ID: 21753172

Title: De novo SCN1A mutations in migrating partial seizures of infancy.

PubMed ID: 21753172

DOI: 10.1212/wnl.0b013e318227046d

PubMed ID: 22092154

Title: Acute encephalopathy in children with Dravet syndrome.

PubMed ID: 22092154

DOI: 10.1111/j.1528-1167.2011.03311.x

PubMed ID: 22309220

Title: Mutations of the SCN1A gene in acute encephalopathy.

PubMed ID: 22309220

DOI: 10.1111/j.1528-1167.2011.03402.x

PubMed ID: 22612257

Title: Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

PubMed ID: 22612257

DOI: 10.1111/j.1528-1167.2012.03516.x

PubMed ID: 23195492

Title: Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.

PubMed ID: 23195492

DOI: 10.1016/j.eplepsyres.2012.06.006

PubMed ID: 23662938

Title: Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

PubMed ID: 23662938

DOI: 10.1111/epi.12203

PubMed ID: 23647072

Title: Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.

PubMed ID: 23647072

DOI: 10.1111/epi.12201

PubMed ID: 23708187

Title: Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PubMed ID: 23708187

DOI: 10.1038/ng.2646

PubMed ID: 24776920

Title: Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation.

PubMed ID: 24776920

DOI: 10.1684/epd.2014.0649

PubMed ID: 25818041

Title: Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

PubMed ID: 25818041

DOI: 10.1111/epi.12954

PubMed ID: 26311622

Title: Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures.

PubMed ID: 26311622

DOI: 10.1016/j.eplepsyres.2015.08.001

PubMed ID: 26637798

Title: Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

PubMed ID: 26637798

DOI: 10.1016/j.neuron.2015.11.009

PubMed ID: 26993267

Title: Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PubMed ID: 26993267

DOI: 10.1136/jmedgenet-2015-103263

PubMed ID: 28544625

Title: A mutation in GABRB3 associated with Dravet syndrome.

PubMed ID: 28544625

DOI: 10.1002/ajmg.a.38282

PubMed ID: 27864847

Title: Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.

PubMed ID: 27864847

DOI: 10.1002/humu.23149

PubMed ID: 28794249

Title: Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.

PubMed ID: 28794249

DOI: 10.1212/wnl.0000000000004331

PubMed ID: 30500825

Title: De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.

PubMed ID: 30500825

DOI: 10.1371/journal.pgen.1007671

PubMed ID: 36977636

Title: Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype.

PubMed ID: 36977636

DOI: 10.1093/cercor/bhad051

Sequence Information:

  • Length: 2009
  • Mass: 228972
  • Checksum: 0593A6730F33C9A2
  • Sequence:
    • MEQTVLVPPG PDSFNFFTRE SLAAIERRIA EEKAKNPKPD KKDDDENGPK PNSDLEAGKN 
LPFIYGDIPP EMVSEPLEDL DPYYINKKTF IVLNKGKAIF RFSATSALYI LTPFNPLRKI 
AIKILVHSLF SMLIMCTILT NCVFMTMSNP PDWTKNVEYT FTGIYTFESL IKIIARGFCL 
EDFTFLRDPW NWLDFTVITF AYVTEFVDLG NVSALRTFRV LRALKTISVI PGLKTIVGAL 
IQSVKKLSDV MILTVFCLSV FALIGLQLFM GNLRNKCIQW PPTNASLEEH SIEKNITVNY 
NGTLINETVF EFDWKSYIQD SRYHYFLEGF LDALLCGNSS DAGQCPEGYM CVKAGRNPNY 
GYTSFDTFSW AFLSLFRLMT QDFWENLYQL TLRAAGKTYM IFFVLVIFLG SFYLINLILA 
VVAMAYEEQN QATLEEAEQK EAEFQQMIEQ LKKQQEAAQQ AATATASEHS REPSAAGRLS 
DSSSEASKLS SKSAKERRNR RKKRKQKEQS GGEEKDEDEF QKSESEDSIR RKGFRFSIEG 
NRLTYEKRYS SPHQSLLSIR GSLFSPRRNS RTSLFSFRGR AKDVGSENDF ADDEHSTFED 
NESRRDSLFV PRRHGERRNS NLSQTSRSSR MLAVFPANGK MHSTVDCNGV VSLVGGPSVP 
TSPVGQLLPE VIIDKPATDD NGTTTETEMR KRRSSSFHVS MDFLEDPSQR QRAMSIASIL 
TNTVEELEES RQKCPPCWYK FSNIFLIWDC SPYWLKVKHV VNLVVMDPFV DLAITICIVL 
NTLFMAMEHY PMTDHFNNVL TVGNLVFTGI FTAEMFLKII AMDPYYYFQE GWNIFDGFIV 
TLSLVELGLA NVEGLSVLRS FRLLRVFKLA KSWPTLNMLI KIIGNSVGAL GNLTLVLAII 
VFIFAVVGMQ LFGKSYKDCV CKIASDCQLP RWHMNDFFHS FLIVFRVLCG EWIETMWDCM 
EVAGQAMCLT VFMMVMVIGN LVVLNLFLAL LLSSFSADNL AATDDDNEMN NLQIAVDRMH 
KGVAYVKRKI YEFIQQSFIR KQKILDEIKP LDDLNNKKDS CMSNHTAEIG KDLDYLKDVN 
GTTSGIGTGS SVEKYIIDES DYMSFINNPS LTVTVPIAVG ESDFENLNTE DFSSESDLEE 
SKEKLNESSS SSEGSTVDIG APVEEQPVVE PEETLEPEAC FTEGCVQRFK CCQINVEEGR 
GKQWWNLRRT CFRIVEHNWF ETFIVFMILL SSGALAFEDI YIDQRKTIKT MLEYADKVFT 
YIFILEMLLK WVAYGYQTYF TNAWCWLDFL IVDVSLVSLT ANALGYSELG AIKSLRTLRA 
LRPLRALSRF EGMRVVVNAL LGAIPSIMNV LLVCLIFWLI FSIMGVNLFA GKFYHCINTT 
TGDRFDIEDV NNHTDCLKLI ERNETARWKN VKVNFDNVGF GYLSLLQVAT FKGWMDIMYA 
AVDSRNVELQ PKYEESLYMY LYFVIFIIFG SFFTLNLFIG VIIDNFNQQK KKFGGQDIFM 
TEEQKKYYNA MKKLGSKKPQ KPIPRPGNKF QGMVFDFVTR QVFDISIMIL ICLNMVTMMV 
ETDDQSEYVT TILSRINLVF IVLFTGECVL KLISLRHYYF TIGWNIFDFV VVILSIVGMF 
LAELIEKYFV SPTLFRVIRL ARIGRILRLI KGAKGIRTLL FALMMSLPAL FNIGLLLFLV 
MFIYAIFGMS NFAYVKREVG IDDMFNFETF GNSMICLFQI TTSAGWDGLL APILNSKPPD 
CDPNKVNPGS SVKGDCGNPS VGIFFFVSYI IISFLVVVNM YIAVILENFS VATEESAEPL 
SEDDFEMFYE VWEKFDPDAT QFMEFEKLSQ FAAALEPPLN LPQPNKLQLI AMDLPMVSGD 
RIHCLDILFA FTKRVLGESG EMDALRIQME ERFMASNPSK VSYQPITTTL KRKQEEVSAV 
IIQRAYRRHL LKRTVKQASF TYNKNKIKGG ANLLIKEDMI IDRINENSIT EKTDLTMSTA 
ACPPSYDRVT KPIVEKHEQE GKDEKAKGK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.