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Nav1.1

Family: Voltage-gated sodium channels

Contents:
Gene and Protein Information
Previous and Unofficial Names
Database Links
Associated Proteins
Voltage Dependence
Activators
Gating Inhibitors
Pore Blockers
Tissue Distribution
Physiological Functions
Physiological Consequences of Altering Gene Expression
Phenotypes, Alleles and Disease Models
Clinically-Relevant Mutations and Pathophysiology
Biologically Significant Variants
References
Gene and Protein Information
Species TM P Loops AA Chromosomal Location Gene Symbol Gene Name Reference
Human 24 0 1998 2q24.3 SCN1A sodium channel, voltage-gated, type I, alpha subunit
Mouse 24 0 1998 2 C1.3 Scn1a sodium channel, voltage-gated, type I, alpha
Rat 24 0 2009 3q21 Scn1a sodium channel, voltage-gated, type I, alpha 10-11
Previous and Unofficial Names
Brain type I
R-I
rat I
Nav1.1
SCN1
FEB3
GEFSP2
HBSCI
NAC1
SMEI
febrile convulsions 3
sodium channel protein brain I subunit alpha
sodium channel protein type 1 subunit alpha
sodium channel protein type I subunit alpha
sodium channel protein, brain I subunit alpha
sodium channel voltage-gated type I alpha polypeptide
sodium channel, voltage-gated, type 1, alpha polypeptide
sodium channel, voltage-gated, type I, alpha
sodium channel, voltage-gated, type I, alpha polypeptide
voltage-gated sodium channel subunit alpha Nav1.1
Database Links
ChEMBL Target 131 (Hs), 10558 (Rn)
DrugBank Target 158 (Hs)
Ensembl ENSG00000144285 (Hs), ENSMUSG00000064329 (Mm), ENSRNOG00000005989 (Rn)
Entrez Gene 6323 (Hs), 20265 (Mm), 81574 (Rn)
GeneCards SCN1A (Hs)
GenitoUrinary Development Molecular Anatomy Project Scn1a (Mm)
HomoloGene 21375 (Hs)
Human Protein Reference Database 01669 (Hs)
InterPro P35498 (Hs), P04774 (Rn)
KEGG Gene hsa:6323 (Hs), mmu:20265 (Mm), rno:81574 (Rn)
OMIM 182389 (Hs)
Orphanet Gene ORPHA118489 (Hs)
PharmGKB Gene PA301 (Hs)
PhosphoSitePlus P35498 (Hs), A2APX8 (Mm)
Protein Ontology (PRO) PRO:000002095 (Hs)
RefSeq Nucleotide NM_006920 (Hs), NM_018733 (Mm), NM_030875 (Rn)
RefSeq Protein NP_008851 (Hs), NP_061203 (Mm), NP_110502 (Rn)
TreeFam ENSG00000144285 (Hs), ENSMUSG00000064329 (Mm), ENSRNOG00000005989 (Rn)
UniGene Hs. 22654 (Hs)
UniProt P35498 (Hs), P04774 (Rn)
Wikipedia Nav1.1
Voltage-gated sodium channels
Search for 3D structures on the PDB
Search by keyword: Voltage-gated sodium channels Nav1.1 Search by accession number: P35498, P04774
Associated Proteins
Heteromeric Pore-forming Subunits
Name References
Not determined
Auxiliary Subunits
Name References
β2 14
β1 1,14
Other Associated Proteins
Name References
Not determined
Associated Protein Comments
β3 and β4 subunits are also likely to associate singly or in pairs with Nav1.1 but there are limited data on co-expression in heterologous cells and no biochemical data that show association in native tissues.
Voltage Dependence
  V0.5 (mV)  τ (msec)  Reference  Cell type  Species 
Activation  -19.6 – -13.7 - 1 Xenopus laevis oocyte Human
Inactivation  -41.9 – -37.9 - 1
Comments  This study included Nav1.1 expressed with and without β1.
  V0.5 (mV)  τ (msec)  Reference  Cell type  Species 
Activation  -19.0 – -17.0 (median: -18.0) - 14 Xenopus laevis oocyte Rat
Inactivation  -43.0 – -35.0 (median: -37.0) - 14
Comments  This study included Nav1.1 expressed alone or with β1 or β2.
  V0.5 (mV)  τ (msec)  Reference  Cell type  Species 
Activation  -33.0 - 2 HEK 293 cells. Human
Inactivation  -72.0 - 2
Comments  Cs fluoride as the major intracellular solute.
  V0.5 (mV)  τ (msec)  Reference  Cell type  Species 
Activation  -7.5 - 9 HEK 293 cells. Human
Inactivation  -37.6 - 9
Comments  Cs aspartate as the major intracellular solute.
Activator Comments
As Nav1.1 shows close similarity to Nav1.2 in amino acid sequence and in functional properties, it is expected that the activators of Nav1.1 will resemble those of Nav1.2, however there is no published work directly on Nav1.1.
Gating inhibitors
Key to terms and symbols Click column headers to sort
Ligand Sp. Affinity Units Concentration range (M) Holding voltage (mV) Reference
ATX-II Hs 8.2 pEC50 - -80.0 13
Bc-III Hs 6.5 pEC50 - -80.0 13
AFT-II Hs 6.4 pEC50 - -80.0 13
Gating Inhibitor Comments
As Nav1.1 shows close similarity to Nav1.2 in amino acid sequence and in functional properties, it is expected that gating inhibitors of Nav1.1 will resemble those of Nav1.2, however there is little published work directly on Nav1.1.
Pore Blockers
Key to terms and symbols View all chemical structures Click column headers to sort
Ligand Sp. Affinity Units Concentration range (M) Holding voltage (mV) Reference
tetrodotoxin Rn 8.0 pKd - -100.0 14
Pore Blocker Comments
As Nav1.1 shows close similarity to Nav1.2 in amino acid sequence and in functional properties, it is expected that pore blockers of Nav1.1 will resemble those of Nav1.2, however there is little published work directly on Nav1.1.
Tissue Distribution
Spinal neurons, primarily cell bodies.
Species:  Human
Technique:  Immunohistochemistry
References:  21
Brain neurons.
Species:  Human
Technique:  In situ hybridisation
References:  20
Cardiac myocytes (sino-atrial node, atrial moctyes and transverse tubules of ventricular myocytes).
Species:  Mouse
Technique:  Immunohistochemistry
References:  7-8
Brain neurons, primarily cell bodies.
Species:  Rat
Technique:  Immunohistochemistry
References:  19
Physiological Functions
Action potential conduction in transverse tubule of ventricular myocytes. Coupling of cell surface depolarisation to contraction is impaired by tetrodotoxin at concentrations that are selective for Nav1.1 channels versus Nav1.5 channels in ventricular myocytes.
Species:  Mouse
Tissue:  Heart
References:  7-8
Action potential initiation and repetitive firing in central neurons. Sodium currents and action potential firing in GABAergic neurons are impaired in mice lacking Nav1.1 channels.
Species:  Mouse
Tissue:  Brain
References:  5,19
Physiological Consequences of Altering Gene Expression
Impaired sodium currents and action potential firing in GABAergic neurons.
Species:  Mouse
Tissue:  GABAergic neurons.
Technique:  Electrophysiology
References:  5
Phenotypes, Alleles and Disease Models Mouse data from MGI

Click here to show/hide data

Allele Composition & genetic background Accession Phenotype Id Phenotype Reference
Scn1atm1Wac Scn1atm1Wac/Scn1atm1Wac
B6.129-Scn1a		 MGI:98246  MP:0005402 abnormal action potential PMID: 16921370 
Scn1a+|Scn1atm1Wac Scn1atm1Wac/Scn1a+
B6.129-Scn1a		 MGI:98246  MP:0005402 abnormal action potential PMID: 16921370 
Scn1a+|Scn1atm1Wac Scn1atm1Wac/Scn1a+
B6.129-Scn1a		 MGI:98246  MP:0004994 abnormal brain wave pattern PMID: 16921370 
Scn1atm1.1Aesc Scn1atm1.1Aesc/Scn1atm1.1Aesc
involves: 129X1/SvJ * C57BL/6J * SJL		 MGI:98246  MP:0004008 abnormal GABA-mediated receptor currents PMID: 20100831 
Scn1a+|Scn1atm1.1Aesc Scn1atm1.1Aesc/Scn1a+
involves: 129X1/SvJ * C57BL/6J * SJL		 MGI:98246  MP:0004008 abnormal GABA-mediated receptor currents PMID: 20100831 
Scn1atm1Kzy Scn1atm1Kzy/Scn1atm1Kzy
involves: 129 * C57BL/6 * SJL		 MGI:98246  MP:0001406 abnormal gait PMID: 17537961 
Scn1atm1Kzy Scn1atm1Kzy/Scn1atm1Kzy
involves: 129 * C57BL/6 * SJL		 MGI:98246  MP:0003492 abnormal involuntary movement PMID: 17537961 
Scn1atm1Wac Scn1atm1Wac/Scn1atm1Wac
B6.129-Scn1a		 MGI:98246  MP:0002272 abnormal nervous system electrophysiology PMID: 16921370 
Scn1a+|Scn1atm1Wac Scn1atm1Wac/Scn1a+
B6.129-Scn1a		 MGI:98246  MP:0002272 abnormal nervous system electrophysiology PMID: 16921370 
Scn1atm1Wac Scn1atm1Wac/Scn1atm1Wac
B6.129-Scn1a		 MGI:98246  MP:0002980 abnormal postural reflex PMID: 16921370 
Scn1atm1Wac Scn1atm1Wac/Scn1atm1Wac
B6.129-Scn1a		 MGI:98246  MP:0001504 abnormal posture PMID: 16921370 
Scn1a+|Scn1atm1Wac Scn1atm1Wac/Scn1a+
involves: 129S1/Sv * 129X1/SvJ * FVB/NJ		 MGI:98246  MP:0008840 abnormal spike wave discharge PMID: 17881658 
Scn1a+|Scn1atm1Wac|Scn8a+|Scn8amed-jo Scn1atm1Wac/Scn1a+,Scn8amed-jo/Scn8a+
involves: 129 * C57BL/6J * DBA/2WyDi * FVB/NJ		 MGI:103169  MGI:98246  MP:0008840 abnormal spike wave discharge PMID: 17881658 
Scn1a+|Scn1atm1.1Aesc Scn1atm1.1Aesc/Scn1a+
involves: 129X1/SvJ * C57BL/6J * SJL		 MGI:98246  MP:0008840 abnormal spike wave discharge PMID: 20100831 
Scn1atm1Wac Scn1atm1Wac/Scn1atm1Wac
B6.129-Scn1a		 MGI:98246  MP:0002690 akinesia PMID: 16921370 
Scn1atm1Wac Scn1atm1Wac/Scn1atm1Wac
B6.129-Scn1a		 MGI:98246  MP:0001393 ataxia PMID: 16921370 
Scn1atm1Wac Scn1atm1Wac/Scn1atm1Wac
B6.129-Scn1a		 MGI:98246  MP:0003996 clonic seizures PMID: 16921370 
Scn1atm1.1Aesc Scn1atm1.1Aesc/Scn1atm1.1Aesc
involves: 129X1/SvJ * C57BL/6J * SJL		 MGI:98246  MP:0003996 clonic seizures PMID: 20100831 
Scn1atm1Wac Scn1atm1Wac/Scn1atm1Wac
B6.129-Scn1a		 MGI:98246  MP:0000947 convulsive seizures PMID: 16921370 
Scn1atm1Kzy Scn1atm1Kzy/Scn1atm1Kzy
involves: 129 * C57BL/6 * SJL		 MGI:98246  MP:0001262 decreased body weight PMID: 17537961 
Scn1atm1.1Aesc Scn1atm1.1Aesc/Scn1atm1.1Aesc
involves: 129X1/SvJ * C57BL/6J * SJL		 MGI:98246  MP:0001262 decreased body weight PMID: 20100831 
Scn1atm1Kzy Scn1atm1Kzy/Scn1atm1Kzy
involves: 129 * C57BL/6 * SJL		 MGI:98246  MP:0000774 decreased brain size PMID: 17537961 
Scn1atm1Kzy Scn1atm1Kzy/Scn1atm1Kzy
involves: 129 * C57BL/6 * SJL		 MGI:98246  MP:0002175 decreased brain weight PMID: 17537961 
Scn1atm1.1Aesc Scn1atm1.1Aesc/Scn1atm1.1Aesc
involves: 129X1/SvJ * C57BL/6J * SJL		 MGI:98246  MP:0009358 environmentally induced seizures PMID: 20100831 
Scn1a+|Scn1atm1.1Aesc Scn1atm1.1Aesc/Scn1a+
involves: 129X1/SvJ * C57BL/6J * SJL		 MGI:98246  MP:0009358 environmentally induced seizures PMID: 20100831 
Scn1a+|Scn1atm1Wac Scn1atm1Wac/Scn1a+
B6.129-Scn1a		 MGI:98246  MP:0001410 head bobbing PMID: 16921370 
Scn1atm1.1Aesc Scn1atm1.1Aesc/Scn1atm1.1Aesc
involves: 129X1/SvJ * C57BL/6J * SJL		 MGI:98246  MP:0002578 impaired ability to fire action potentials PMID: 20100831 
Scn1atm1Wac Scn1atm1Wac/Scn1atm1Wac
B6.129-Scn1a		 MGI:98246  MP:0001523 impaired righting response PMID: 16921370 
Scn1a+|Scn1atm1Wac Scn1atm1Wac/Scn1a+
involves: 129S1/Sv * 129X1/SvJ * FVB/NJ		 MGI:98246  MP:0002906 increased susceptibility to pharmacologically induced seizures PMID: 17881658 
Scn1a+|Scn1atm1.1Aesc Scn1atm1.1Aesc/Scn1a+
involves: 129X1/SvJ * C57BL/6J * SJL		 MGI:98246  MP:0002906 increased susceptibility to pharmacologically induced seizures PMID: 20100831 
Scn1atm1Kzy Scn1atm1Kzy/Scn1atm1Kzy
involves: 129 * C57BL/6 * SJL		 MGI:98246  MP:0005424 jerky movement PMID: 17537961 
Scn1atm1.1Aesc Scn1atm1.1Aesc/Scn1atm1.1Aesc
involves: 129X1/SvJ * C57BL/6J * SJL		 MGI:98246  MP:0002194 maximal tonic hindlimb extension seizures PMID: 20100831 
Scn1atm1Wac Scn1atm1Wac/Scn1atm1Wac
B6.129-Scn1a		 MGI:98246  MP:0002082 postnatal lethality PMID: 16921370 
Scn1atm1Kzy Scn1atm1Kzy/Scn1atm1Kzy
involves: 129 * C57BL/6 * SJL		 MGI:98246  MP:0002082 postnatal lethality PMID: 17537961 
Scn1atm1Wac Scn1atm1Wac/Scn1atm1Wac
involves: 129S1/Sv * 129X1/SvJ * FVB/NJ		 MGI:98246  MP:0002082 postnatal lethality PMID: 17881658 
Scn1atm1Wac|Scn8a+|Scn8amed-jo Scn1atm1Wac/Scn1atm1Wac,Scn8amed-jo/Scn8a+
involves: 129 * C57BL/6J * DBA/2WyDi * FVB/NJ		 MGI:103169  MGI:98246  MP:0002082 postnatal lethality PMID: 17881658 
Scn1atm1Wac|Tg(Scn1a*)RH9Aesc Scn1atm1Wac/Scn1atm1Wac,Tg(Scn1a*)RH9Aesc/0
involves: 129S1/Sv * 129X1/SvJ * FVB/NJ		 MGI:3851209  MGI:98246  MP:0002082 postnatal lethality PMID: 19409490 
Scn1atm1.1Aesc Scn1atm1.1Aesc/Scn1atm1.1Aesc
involves: 129X1/SvJ * C57BL/6J * SJL		 MGI:98246  MP:0002082 postnatal lethality PMID: 20100831 
Scn1a+|Scn1atm1Wac Scn1atm1Wac/Scn1a+
B6.129-Scn1a		 MGI:98246  MP:0002083 premature death PMID: 16921370 
Scn1a+|Scn1atm1Wac Scn1atm1Wac/Scn1a+
129-Scn1a		 MGI:98246  MP:0002083 premature death PMID: 16921370 
Scn1a+|Scn1atm1Wac Scn1atm1Wac/Scn1a+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6		 MGI:98246  MP:0002083 premature death PMID: 16921370 
Scn1a+|Scn1atm1Kzy Scn1atm1Kzy/Scn1a+
involves: 129 * C57BL/6 * SJL		 MGI:98246  MP:0002083 premature death PMID: 17537961 
Scn1a+|Scn1atm1Wac Scn1atm1Wac/Scn1a+
involves: 129S1/Sv * 129X1/SvJ * FVB/NJ		 MGI:98246  MP:0002083 premature death PMID: 17881658 
Scn1atm1Wac|Tg(Scn1a*)RH9Aesc Scn1atm1Wac/Scn1atm1Wac,Tg(Scn1a*)RH9Aesc/0
involves: 129S1/Sv * 129X1/SvJ * FVB/NJ		 MGI:3851209  MGI:98246  MP:0002083 premature death PMID: 19409490 
Scn1a+|Scn1atm1Wac|Tg(Scn1a*)RH9Aesc Scn1atm1Wac/Scn1a+,Tg(Scn1a*)RH9Aesc/0
involves: 129S1/Sv * 129X1/SvJ * FVB/NJ		 MGI:3851209  MGI:98246  MP:0002083 premature death PMID: 19409490 
Scn1a+|Scn1atm1Wac Scn1atm1Wac/Scn1a+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6		 MGI:98246  MP:0001921 reduced fertility PMID: 16921370 
Scn1atm1Wac Scn1atm1Wac/Scn1atm1Wac
B6.129-Scn1a		 MGI:98246  MP:0002064 seizures PMID: 16921370 
Scn1a+|Scn1atm1Wac Scn1atm1Wac/Scn1a+
B6.129-Scn1a		 MGI:98246  MP:0002064 seizures PMID: 16921370 
Scn1a+|Scn1atm1Kzy Scn1atm1Kzy/Scn1a+
involves: 129 * C57BL/6 * SJL		 MGI:98246  MP:0002064 seizures PMID: 17537961 
Scn1atm1Kzy Scn1atm1Kzy/Scn1atm1Kzy
involves: 129 * C57BL/6 * SJL		 MGI:98246  MP:0002064 seizures PMID: 17537961 
Scn1atm1.1Aesc Scn1atm1.1Aesc/Scn1atm1.1Aesc
involves: 129X1/SvJ * C57BL/6J * SJL		 MGI:98246  MP:0002064 seizures PMID: 20100831 
Scn1a+|Scn1atm1.1Aesc Scn1atm1.1Aesc/Scn1a+
involves: 129X1/SvJ * C57BL/6J * SJL		 MGI:98246  MP:0002064 seizures PMID: 20100831 
Scn1atm1Kzy Scn1atm1Kzy/Scn1atm1Kzy
involves: 129 * C57BL/6 * SJL		 MGI:98246  MP:0003997 tonic-clonic seizures PMID: 17537961 
Scn1a+|Scn1atm1Wac Scn1atm1Wac/Scn1a+
involves: 129S1/Sv * 129X1/SvJ * FVB/NJ		 MGI:98246  MP:0003997 tonic-clonic seizures PMID: 17881658 
Scn1a+|Scn1atm1.1Aesc Scn1atm1.1Aesc/Scn1a+
involves: 129X1/SvJ * C57BL/6J * SJL		 MGI:98246  MP:0003997 tonic-clonic seizures PMID: 20100831 
Scn1atm1Kzy Scn1atm1Kzy/Scn1atm1Kzy
involves: 129 * C57BL/6 * SJL		 MGI:98246  MP:0002826 tonic seizures PMID: 17537961 
Scn1atm1.1Aesc Scn1atm1.1Aesc/Scn1atm1.1Aesc
involves: 129X1/SvJ * C57BL/6J * SJL		 MGI:98246  MP:0002826 tonic seizures PMID: 20100831 
Scn1a+|Scn1atm1.1Aesc Scn1atm1.1Aesc/Scn1a+
involves: 129X1/SvJ * C57BL/6J * SJL		 MGI:98246  MP:0002826 tonic seizures PMID: 20100831 
Scn1atm1Wac Scn1atm1Wac/Scn1atm1Wac
B6.129-Scn1a		 MGI:98246  MP:0000745 tremors PMID: 16921370 
Scn1atm1Kzy Scn1atm1Kzy/Scn1atm1Kzy
involves: 129 * C57BL/6 * SJL		 MGI:98246  MP:0001263 weight loss PMID: 17537961 
Scn1atm1.1Aesc Scn1atm1.1Aesc/Scn1atm1.1Aesc
involves: 129X1/SvJ * C57BL/6J * SJL		 MGI:98246  MP:0001263 weight loss PMID: 20100831 
Clinically-Relevant Mutations and Pathophysiology
Disease:  Generalised Epilepsy with Febrile Seisures Plus (GEFS+)
OMIM:  604403
Orphanet:  36387
Drugs:  Treated with anti-epileptic drugs.
References:  3,18
Click column headers to sort
Type Species Molecular location Description Reference
Missense Human I1656M 18
Missense Human R1648H 3
Missense Human V1353L 18
Missense Human T875M 3
Missense Human D118V 18
Disease:  Severe Myotonic Epilepsy of Infancy (SMEI or Dravet Syndrome)
OMIM:  607208
Orphanet:  33069
References:  17
Click column headers to sort
Type Species Molecular location Description Reference
Deletion Human 1807delMFYE 4
Deletion Human F1289 12
Frameshift Human Q1904 15
Frameshift Human G1880 12
Frameshift Human K1846 17
Frameshift Human N1788 17
Frameshift Human F1765 4
Frameshift Human L1670 15-16
Frameshift Human A1429 12
Frameshift Human S1100 16
Frameshift Human T1082 12
Frameshift Human A1002 12
Frameshift Human D958 15
Frameshift Human R946 4
Frameshift Human Q732 4
Frameshift Human P707 12
Frameshift Human S607 12
Frameshift Human K547 12
Frameshift Human R501 12
Frameshift Human R219 16
Frameshift Human G177 4
Frameshift Human P37 17
Missense Human IVS22-14T>G 17
Missense Human IVS22+1G>A 16
Missense Human IVS18+1G>A 17
Missense Human IVS4+1G>A 4
Missense Human T1909I 12
Missense Human E1881D 17
Missense Human F1831S 4
Missense Human W1812G 4
Missense Human A1685D 4
Missense Human G1674R 12
Missense Human R1648C 12
Missense Human Q1450R 12
Missense Human W1434R 12
Missense Human V1390M 12
Missense Human A1326P 17
Missense Human L1265P 12
Missense Human F1263L 4
Missense Human S1231R 4
Missense Human L986F 16
Missense Human N985I 4
Missense Human M960V 4
Missense Human R931C 12
Missense Human F902C 12
Missense Human G343E 4
Missense Human G265W 4
Missense Human T112I 4
Missense Human S103G 4
Truncation Human R1892X 15
Truncation Mouse S1516X 15
Truncation Human W1408X 4
Truncation Human R1407X 15
Truncation Human W1284X 4
Truncation Human W1271X 12
Truncation Human R1213X 4
Truncation Human W1204X 15
Truncation Human K1027X 12
Truncation Human W952X 4
Truncation Human R865X 12
Truncation Human R712X 12,15
Truncation Human R568X 12
Truncation Human I448X 17
Truncation Human R222X 16
Disease:  Migraine, familial hemiplegic, 3; FHM3
OMIM:  609634
Orphanet:  569
References: 
Mutations not determined
Biologically Significant Variants
Longer splice variant.
Protein accession:  P35498 
Amino acids:  2009
Type:  Splice variant
Species:  Human
References:  3,6
Shorter splice variant
Nucleotide accession:  NM_006920 
Protein accession:  NP_008851 
Amino acids:  1998
Type:  Splice variant
Species:  Human
References:  3,6
Biologically Significant Variant Comments
Probable in-frame deletion in exon 11 by alternative splicing is responsible for the difference in sequence length [3,6].

REFERENCES

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1. Barela, AJ; Waddy, SP; Lickfett, JG; Hunter, J; Anido, A; Helmers, SL; Goldin, AL; Escayg, A. (2006) An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability. J. Neurosci., 26 (10): 2714-23. [PMID:16525050]

2. Clare, JJ; Tate, SN; Nobbs, M; Romanos, MA. (2000) Voltage-gated sodium channels as therapeutic targets. Drug Discov. Today, 5 (11): 506-520. [PMID:11084387]

3. Escayg, A; MacDonald, BT; Meisler, MH; Baulac, S; Huberfeld, G; An-Gourfinkel, I; Brice, A; LeGuern, E; Moulard, B; Chaigne, D; Buresi, C; Malafosse, A. (2000) Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat. Genet., 24 (4): 343-5. [PMID:10742094]

4. Fujiwara, T; Sugawara, T; Mazaki-Miyazaki, E; Takahashi, Y; Fukushima, K; Watanabe, M; Hara, K; Morikawa, T; Yagi, K; Yamakawa, K; Inoue, Y. (2003) Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain, 126 (Pt 3): 531-46. [PMID:12566275]

5. Kalume, F; Yu, FH; Westenbroek, RE; Scheuer, T; Catterall, WA. (2007) Reduced sodium current in Purkinje neurons from Nav1.1 mutant mice: implications for ataxia in severe myoclonic epilepsy in infancy. J. Neurosci., 27 (41): 11065-74. [PMID:17928448]

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To cite this database page, please use the following:

William A. Catterall, Alan L. Goldin, Stephen G. Waxman.
Voltage-gated sodium channels: Nav1.1. Last modified on 23/01/2012. Accessed on 22/05/2013. IUPHAR database (IUPHAR-DB), http://www.iuphar-db.org/DATABASE/ObjectDisplayForward?objectId=578.


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