1. Gene
  2. SCN1A - sodium voltage-gated channel alpha subunit 1 Gene

SCN1A - sodium voltage-gated channel alpha subunit 1 Gene

Homo sapiens

Also known as DEE6; DRVT; FEB3; FHM3; NAC1; SCN1; SMEI; DEE6A; DEE6B; EIEE6; FEB3A; HBSCI; GEFSP2; Nav1.1

Gene ID: 6323 | Gene type: protein coding

About SCN1A

Cytogenetic location: 2q24.3 Genomic coordinates (GRCh38): 2:165,984,641-166,149,161 (from NCBI)

This gene has 25 transcripts (splice variants), 140 orthologues, 26 paralogues and is associated with 11 phenotypes. Biased expression in brain (RPKM 5.3), lung (RPKM 1.3) and 1 other tissue.

Summary

Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each Sodium Channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a Sodium Channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015]

SCN1A Products(18)

mRNA Protein Name
NM_001165963.4 NP_001159435.1 sodium channel protein type 1 subunit alpha isoform 1
NM_001353952.2 NP_001340881.1 sodium channel protein type 1 subunit alpha isoform 2
XM_047445393.1 XP_047301349.1 sodium channel protein type 1 subunit alpha isoform X2
NM_001353957.2 NP_001340886.1 sodium channel protein type 1 subunit alpha isoform 3
NM_006920.6 NP_008851.3 sodium channel protein type 1 subunit alpha isoform 2
NM_001353954.2 NP_001340883.1 sodium channel protein type 1 subunit alpha isoform 4
NM_001353951.2 NP_001340880.1 sodium channel protein type 1 subunit alpha isoform 2
NM_001202435.3 NP_001189364.1 sodium channel protein type 1 subunit alpha isoform 1
XM_047445392.1 XP_047301348.1 sodium channel protein type 1 subunit alpha isoform X1
NM_001353948.2 NP_001340877.1 sodium channel protein type 1 subunit alpha isoform 1
NM_001353961.2 NP_001340890.1 sodium channel protein type 1 subunit alpha isoform 6
NM_001353955.2 NP_001340884.1 sodium channel protein type 1 subunit alpha isoform 4
NM_001165964.3 NP_001159436.1 sodium channel protein type 1 subunit alpha isoform 3
NM_001353960.2 NP_001340889.1 sodium channel protein type 1 subunit alpha isoform 5
NM_001353958.2 NP_001340887.1 sodium channel protein type 1 subunit alpha isoform 3
NR_148667.2
NM_001353950.2 NP_001340879.1 sodium channel protein type 1 subunit alpha isoform 2
NM_001353949.2 NP_001340878.1 sodium channel protein type 1 subunit alpha isoform 2

SCN1A Protein Structure

Ion_trans

Ion_trans: Ion transport protein (157 - 422)

Na_trans_cytopl

Na_trans_cytopl: Cytoplasmic domain of voltage-gated Na+ ion channel (484 - 718)

Ion_trans

Ion_trans: Ion transport protein (804 - 990)

Na_trans_assoc

Na_trans_assoc: Sodium ion transport-associated (1006 - 1228)

Ion_trans

Ion_trans: Ion transport protein (1254 - 1482)

Ion_trans

Ion_trans: Ion transport protein (1576 - 1785)

  • 0
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  • 1600
  • 2009 a.a.
Protein Preferred Names Protein Names

sodium channel protein type 1 subunit alpha

sodium channel protein type I subunit alpha

sodium channel protein, brain I alpha subunit

sodium channel voltage gated type 1 alpha subunit

sodium channel, voltage-gated, type I, alpha polypeptide

sodium channel, voltage-gated, type I, alpha subunit

voltage-gated sodium channel subunit alpha Nav1.1

Related Diseases

Diseases Alias
Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Partial Motor Epilepsy

Epilepsy, Partial, Motor

Epilepsy, Focal Motor

Focal Motor Seizure

Generalized Epilepsy With Febrile Seizures Plus, Type 1

GEFSP1

GEFS+1

Generalized Epilepsy With Febrile Seizures Plus 1

Gefs+, Type 1

Generalised Epilepsy With Febrile Seizures Plus 1

Generalised Epilepsy With Febrile Seizures Plus Type 1

Generalized Epilepsy With Febrile Seizures Plus Type 1

Gefs+ Type 1

Epilepsy, Generalized, With Febrile Seizures Plus, Type 1

Developmental And Epileptic Encephalopathy 9

Efmr

Epileptic Encephalopathy, Early Infantile, 9

Eiee9

DEE9

Juberg-Hellman Syndrome

Epilepsy, Female-Restricted, With Mental Retardation

Developmental And Epileptic Encephalopathy, 9

Early Infantile Epileptic Encephalopathy 9

Early Infantile Female-Limited Epilecptic Encephalopathy

Female Restricted Epilepsy With Mental Retardation

Juberg Hellman Syndrome

Pcdh19-Related Female-Limited Epilepsy

Epilepsy And Mental Retardation Limited To Females

Epilepsy, Female Restricted, With Mental Retardation

Familial Epilepsy And Mental Retardation Limited To Females

Female Restricted Epilepsy With Intellectual Deficit

Pcdh19-Related Fle

Pcdh19-Related Infantile Epileptic Encephalopathy

Female Restricted Epilepsy With Intellectual Disability

Encephalopathy, Epileptic, Early Infantile, Type 9

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Febrile Seizures

Febrile Seizure

Febrile Convulsions

Seizures Febrile

Epilepsy, Idiopathic Generalized

Idiopathic Generalized Epilepsy

Generalised Epilepsy

Epilepsy, Generalized

EIG

Ige

Epilepsy, Idiopathic Generalized, Susceptibility To, 1

Epilepsy, Idiopathic Generalized 1

Epilepsy, Idiopathic Generalized, Susceptibility To

Epilepsy, Idiopathic, Generalized

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1

Somatoform Disorder

Physiological Malfunction Arising From Mental Factor

Psychosomatic Disorder

Psychophysiologic Disorders

Sudden Infant Death Syndrome

SIDS

Sudden Infant Death Syndrome, Susceptibility To

Cot Death

Crib Death

Sudden Death Of Nonspecific Cause In Infancy

Sudden Infant Death

Death, Sudden, Syndrome, Infant

Paroxysmal Extreme Pain Disorder

PEPD

Familial Rectal Pain

Pexpd

Submandibular, Ocular, And Rectal Pain With Flushing

Pain, Submandibular, Ocular, And Rectal, With Flushing

Rectal Pain, Familial

Submandibular, Ocular And Rectal Pain With Flushing

Familial Rectal Syndrome

Frp

Pain Disorder, Paroxysmal, Extreme

Polymicrogyria

Pmg

Developmental And Epileptic Encephalopathy 21

DEE21

Epileptic Encephalopathy, Early Infantile, 21

Eiee21

Developmental And Epileptic Encephalopathy, 21

Early Infantile Epileptic Encephalopathy 21

Encephalopathy, Epileptic, Early Infantile, Type 21

Lennox-Gastaut Syndrome

Epileptic Encephalopathy Lennox-Gastaut Type

Lennox Syndrome

Encephalopathy Of Childhood

Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves

Lgs

Epilepsy With Myoclonic-Atonic Seizures

Doose Syndrome

Epilepsy With Myoclonic-Astatic Seizures

Myoclonic Astatic Epilepsy

Epilepsy With Myoclono-Astatic Crisis

Myoclonic-Astatic Epilepsy

Emas

Mae

Myoclonic Atonic Epilepsy

Myoclonic-Astatic Epilepsy In Early Childhood

Childhood Absence Epilepsy

Pyknolepsy

Petit Mal Epilepsy

Absence Seizures

Absence Seizure

Petit Mal Seizure

Absence Epilepsy, Childhood

Pykno-Epilepsy

Epilepsy, Absence

Absence Epilepsy

Pycnolepsy

Atrioventricular Block

Av Block

Developmental And Epileptic Encephalopathy 1

Epileptic Encephalopathy, Early Infantile, 1

Infantile Epileptic-Dyskinetic Encephalopathy

DEE1

Eiee1

Issx1

Xmesid

X-Linked Infantile Spasm Syndrome 1

X-Linked Infantile Spasm Syndrome

X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome

Developmental And Epileptic Encephalopathy, 1

Infantile Epileptic Dyskinetic Encephalopathy

Infantile Spasm Syndrome, X-Linked 1

West Syndrome, X-Linked

Ohtahara Syndrome, X-Linked

Early Infantile Epileptic Encephalopathy 1

Early Infantile Epileptic Encephalopathy-1

Issx

X-Linked Ohtahara Syndrome

X-Linked West Syndrome

Infantile Spasm Syndrome X-Linked 1

Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity

Ohtahara Syndrome X-Linked

West Syndrome X-Linked

Encephalopathy, Epileptic, Early Infantile, Type 1

Developmental And Epileptic Encephalopathy 13

Epileptic Encephalopathy, Early Infantile, 13

DEE13

Eiee13

Developmental And Epileptic Encephalopathy, 13

Early Infantile Epileptic Encephalopathy 13

Scn8a Encephalopathy

Early Infantile Epileptic Encephalopathy-13

Scn8a Epilepsy

Encephalopathy, Developmental And Epileptic, Type 13

Landau-Kleffner Syndrome

Acquired Epileptic Aphasia

Lks

Acquired Aphasia With Convulsive Disorder

Acquired Epileptiform Aphasia

Landau Kleffner Syndrome

Childhood Epileptic Aphasia

Epilepsy, Pyridoxine-Dependent

Pyridoxine-Dependent Epilepsy

PDE

Pyridoxine Dependency With Seizures

Vitamin B6-Dependent Seizures

EPD

Aasa Dehydrogenase Deficiency

Antiquitin Deficiency

Pyridoxine Dependency

Glutamate Decarboxylase Deficiency

Pyridoxine-Dependent Seizures

Deficiency Of Glutamate Decarboxylase

Developmental And Epileptic Encephalopathy 6b

DEE6B

Developmental And Epileptic Encephalopathy 6b, Non-Dravet

Familial Or Sporadic Hemiplegic Migraine
Benign Epilepsy With Centrotemporal Spikes

Benign Rolandic Epilepsy

Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome

Deletion 1p36

Monosomy 1p36

Subtelomeric 1p36 Deletion

Monosomy 1p36 Syndrome

Distal Monosomy 1p36

Del(1)(P36)

Deletion 1pter

Monosomy 1pter

Long Qt Syndrome 3

LQT3

Long Qt Syndrome Type 3

Long Qt Syndrome-3

Qt Syndrome, Long, Type 3

Severe Congenital Neutropenia 2

Scn2

Adolescence-Adult Electroclinical Syndrome
Migraine, Familial Hemiplegic, 2

FHM2

Mhp2

Migraine, Familial Basilar

Familial Hemiplegic Migraine 2

Familial Hemiplegic Migraine-2

Familiar Basilar Migraine

Migraine, Hemiplegic, Familial, Type 2

Retinal Arteries, Tortuosity Of

Retinal Arterial Tortuosity

Retinal Hemorrhage With Vascular Tortuosity

RATOR

Tortuosity Of Retinal Arteries

Retinal Arteriolar Tortuosity

Familial Isolated Retinal Arterial Tortuosity

Tortuosity, Arteries, Retinal

Erythromelalgia

Primary Erythromelalgia

Erythermalgia

Primary Erythermalgia

Mitchell Disease

Familial Erythromelalgia

Migraine, Familial Hemiplegic, 1

FHM1

Mhp1

Fhm

Familial Hemiplegic Migraine 1

Migraine, Familial Hemiplegic, 1, With Progressive Cerebellar Ataxia

Familial Hemiplegic Migraine1 With Progressive Cerebellar Ataxia

Migraine Familial Hemiplegic With Progressive Cerebellar Ataxia

Migraine, Hemiplegic, Familial, Type 1

Hemiplegic Migraine, Familial Type 1

Benign Neonatal Seizures

Benign Neonatal Epilepsy

Benign Familial Neonatal Seizures

Benign Neonatal Convulsions

Benign Familial Neonatal Convulsions

Benign Familial Neonatal Epilepsy

Bfne

Bfns

Seizures, Benign Neonatal

Neonatal Convulsions Benign

Epilepsy, Benign Neonatal

Epilepsy, Benign Neonatal, 2

Benign Familial Convulsion

Familial Benign Neonatal Epilepsy

Sturge-Weber Syndrome

SWS

Encephalotrigeminal Angiomatosis

Encephalofacial Angiomatosis

Sturge-Weber-Dimitri Syndrome

Sturge-Weber-Krabbe Syndrome

Fourth Phacomatosis

Leptomeningeal Angiomatosis

Meningeal Capillary Angiomatosis

Sturge-Weber-Krabbe Angiomatosis

Sturge-Weber Syndrome, Somatic, Mosaic

Sws Type I - Facial And Leptomeningeal Angiomas

Sws Type Ii - Facial Angioma Alone, No Cns Involvement

Sws Type Iii - Isolated Leptomeningeal Angiomas

Sturge Weber Syndrome

Angiomatosis Aculoorbital-Thalamic Syndrome

Encephalofacial Hemangiomatosis

Encephalofacial Hemangiomatosis Syndrome

Meningo-Oculo-Facial Angiomatosis

Meningofacial Angiomatosis-Cerebral Calcification Syndrome

Neuroretinoangiomatosis

Phakomatosis, Sturge-Weber

Weber-Sturge-Dimitri Syndrome

Migraine Without Aura

Common Migraine

Migraine With Or Without Aura, Susceptibility To

Migraine Without Aura, Susceptibility To

Acute Migraine Without Aura

Photosensitive Epilepsy

Pse

Photogenic Epilepsy

Photoparoxysmal Response

Reflex Epilepsy, Photosensitive

Photoparoxysmal Response 1

Episodic Ataxia

Isaacs Syndrome

Neuromyotonia

Isaacs' Syndrome

Acquired Neuromyotonia

Continuous Muscle Fiber Activity Syndrome

Quantal Squander Syndrome

Isaacs-Mertens Syndrome

Ea Syndrome

Episodic Ataxia Syndrome

Isaac Syndrome

Isaac'S-Merten'S Syndrome

Isaac-Mertens Syndrome

Peripheral Nerve Hyperexcitability

Ea

Ataxia, Episodic

Isaacs Neuromyotonia

Continuous Muscle Fibre Activity

Epilepsy, Familial Temporal Lobe, 1

ETL1

Adpeaf

Adlte

Epilepsy, Partial, With Auditory Features

Epilepsy, Lateral Temporal Lobe, Autosomal Dominant

Familial Temporal Lobe Epilepsy 1

Partial Epilepsy With Auditory Features

Autosomal Dominant Partial Epilepsy With Auditory Features

Autosomal Dominant Lateral Temporal Lobe Epilepsy

Lateral Temporal Lobe Epilepsy Autosomal Dominant

Epilepsy, Temporal Lobe, Familial, Type 1

Patent Foramen Ovale

Atrial Septal Defect Within Oval Fossa

Foramen Ovale Patent

Ostium Secundum Atrial Septal Defect

Atrial Septal Defect, Ostium Secundum Type

Foramen Ovale, Patent

Defect, Patent Or Persistent, Ostium Secundum

Ostium Secundum Type Atrial Septal Defect

Persistent Ostium Secundum

Asd Ostium Secundum Type

Ostium Secundum Asd

Osasd

Asd, Ostium Secundum Type

Pfo - [Patent Foramen Ovale]

Open Foramen Ovale

Open Oval Foramen

Persistent Foramen Ovale

Secundum Atrial Septal Defect

Benign Familial Neonatal Epilepsy

Familial Neonatal Seizures

Bfns

Benign Familial Neonatal Convulsions

Benign Familial Neonatal Seizures

Epilepsy Benign Neonatal Familial

Familial Benign Neonatal Convulsions

Benign Neonatal Familial Convulsions

Familial Benign Neonatal Epilepsy

Epilepsy, Benign Neonatal, 2

Benign Familial Convulsion

Epilepsy, Familial Temporal Lobe, 8

Familial Temporal Lobe Epilepsy 8

ETL8

Epilepsy, Temporal Lobe, Familial, Type 8

Epilepsy, Myoclonic Juvenile

Juvenile Myoclonic Epilepsy

Janz Syndrome

Jme

Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

EJM

Myoclonic Epilepsy, Juvenile

Petit Mal, Impulsive

Myoclonic Epilepsy, Juvenile 1

Myoclonic Epilepsy, Juvenile, 1

Adolescent Myoclonic Epilepsy

Juvenile Myoclonus Epilepsy

Juvenile Myoclonic Epilepsy 1

EJM1

Petit Mal Impulsive

Susceptibility To Juvenile Myoclonic Epilepsy 1

Myoclonic Epilepsy Juvenile

Epilepsy, Myoclonic, Juvenile

Myoclonic Epilepsy Of Janz

Jme - [Juvenile Myoclonic Epilepsy]

Familial Febrile Seizures

Familial Febrile Convulsions

Feb

Febrile Seizures, Familial

Alternating Hemiplegia Of Childhood

Alternating Hemiplegia

Ahc

Alternating Hemiplegia Syndrome

Hemiplegia, Alternating, Of Childhood

Hemiplegia, Crossed

Benign Familial Infantile Epilepsy

Benign Familial Infantile Seizures

Bfie

Benign Familial Infantile Convulsion

Bfic

Bfis

Benign Familial Infantile Convulsions

Familial Benign Neonatal Epilepsy

Watanabe-Vigevano Syndrome

Megalencephaly, Autosomal Dominant
Progressive Myoclonus Epilepsy

Pme

Progressive Myoclonic Epilepsy

Myoclonic Epilepsies, Progressive

Unverricht-Lundborg Syndrome

Migraine With Aura

Classic Migraine

Migraine With Typical Aura

Migraine Accompagnée

Complicated Migraine

Classical Migraine

Acute Migraine With Aura

Developmental And Epileptic Encephalopathy 14

Malignant Migrating Partial Seizures Of Infancy

Eiee14

Epilepsy Of Infancy With Migrating Focal Seizures

Mmpsi

DEE14

Epileptic Encephalopathy, Early Infantile, 14

Early Infantile Epileptic Encephalopathy 14

Malignant Migrating Partial Epilepsy Of Infancy

Migrating Partial Epilepsy Of Infancy

Migrating Partial Seizures Of Infancy

Mmpei

Mpei

Mpsi

Malignant Migrating Focal Seizures Of Infancy

Migrating Partial Seizures In Infancy

Developmental And Epileptic Encephalopathy, 14

Encephalopathy, Epileptic, Early Infantile, Type 14

Severe Congenital Neutropenia 6

Autosomal Recessive Severe Congenital Neutropenia Due To Jagn1 Deficiency

Scn6

Hemiplegia

Infantile Hemiplegia

Postnatal Infantile Hemiplegia

Hemiplegia, Infantile

Pyruvate Dehydrogenase E1-Alpha Deficiency

Pyruvate Dehydrogenase Deficiency

Pyruvate Dehydrogenase Complex Deficiency

Pyruvate Decarboxylase Deficiency

Pdh Deficiency

PDHAD

Pyruvate Dehydrogenase Complex Deficiency Disease

Ataxia With Lactic Acidosis I

Ataxia With Lactic Acidosis 1

Pdh

Pdhc

Ataxia With Lactic Acidosis

Ataxia, Intermittent, With Abnormal Pyruvate Metabolism

Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency

Deficiency Of Pyruvic Dehydrogenase

Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency

Pdc Deficiency

Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency

Pdhc Deficiency

Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency

Ataxia Intermittent With Abnormal Pyruvate Metabolism

Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency

Pyruvate Dehydrogenase E1 Alpha Deficiency

Pdc - [Pyruvate Dehydrogenase Complex] Deficiency

Ataxia With Lactic Acidosis 2

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12

Developmental And Epileptic Encephalopathy 43

DEE43

Epileptic Encephalopathy, Early Infantile, 43

Eiee43

Developmental And Epileptic Encephalopathy, 43

Early Infantile Epileptic Encephalopathy 43

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Adnfle

Autosomal Dominant Sleep-Related Hypermotor Epilepsy

Enfl

Benign Familial Infantile Seizures 6

Benign Familial Infantile Seizures, 6

Nocturnal Frontal Lobe Epilepsy-4

Enfl1

Epilepsy, Nocturnal Frontal Lobe, 1

Epilepsy, Nocturnal Frontal Lobe, Type 1

Trigeminal Neuralgia

Tic Douloureux

Trifacial Neuralgia

Trifocal Neuralgia

Neuralgia Of The Fifth Cranial Nerve

Neuralgia Of 5th Cranial Nerve

Infraorbital Neuralgia

Unverricht-Lundborg Syndrome

Unverricht-Lundborg Disease

Epm1

Myoclonic Epilepsy Of Unverricht And Lundborg

Myoclonus Progressive Epilepsy Of Unverricht And Lundborg

Unverricht - Lundborg Disease

Unverricht'S Disease

Epilepsy, Progressive Myoclonic Type 1

Epilepsy, Progressive Myoclonus 1

Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy

Baltic Myoclonic Epilepsy

Baltic Myoclonus

Baltic Myoclonus Epilepsy

Lundborg-Unverricht Syndrome

Mediterranean Myoclonic Epilepsy

Pme

Progressive Myoclonic Epilepsy

Progressive Myoclonus Epilepsy 1

Uld

Myoclonic Epilepsies, Progressive

Febrile Seizures, Familial, 1

FEB1

Convulsions, Familial Febrile, 1

Familial Febrile Seizures 1

Familial Febrile Convulsions 1

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Obesity , Susceptibility To

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

Scn1a Seizure Disorders
Progressive Familial Heart Block, Type Ia

PFHB1A

Bundle Branch Block

Heart Block, Nonprogressive

Lenegre-Lev Disease

Hereditary Bundle Branch System Defect

Progressive Familial Heart Block Type Ia

Pfhbia

Pccd

Hbbd

Progressive Familial Heart Block, Type 1a

Heart Block, Progressive Familial, Type I

Pfhbi

Cardiac Conduction Defect, Progressive

Heart Block, Progressive, Type Ia

Progressive Familial Heart Block Type 1a

Familial Progressive Cardiac Conduction Defect

Heart Block Progressive Familial Type 1

Familial Lenègre Disease

Familial Lev Disease

Familial Lev-Lenègre Disease

Familial Pccd

Familial Progressive Heart Block

Hereditary Bundle Branch Defect

Progressive Familial Heart Block

Progressive Familial Heart Block 1a

Cardiac Conduction Defect

Progressive Cardiac Conduction Defect

Progressive Familial Heart Block Type I

Heart Block, Progressive, Familial, Type 1a

Bundle-Branch Block

Conduction Disorder Of The Heart

Childhood Electroclinical Syndrome
Developmental And Epileptic Encephalopathy 2

Epileptic Encephalopathy, Early Infantile, 2

DEE2

Eiee2

Issx2

Developmental And Epileptic Encephalopathy, 2

Infantile Spasm Syndrome, X-Linked 2

Early Infantile Epileptic Encephalopathy 2

X-Linked Infantile Spasm Syndrome 2

Atypical Rett Syndrome Cdkl5-Related

Atypical Rett Syndrome Hanefeld Variant

Infantile Spasm Syndrome X-Linked 2

Rett Syndrome Early-Onset Seizure Variant

Rett Syndrome Variant With Infantile Spasms

Encephalopathy, Epileptic, Early Infantile, Type 2

Hypertelorism

Eyes Wide Apart

Eyes Widely Set

Hypertelorism Of Orbit

Ocular Hypertelorism

Orbital Separation Excessive

Hyperkalemic Periodic Paralysis

HYPP

Gamstorp Disease

Gamstorp Episodic Adynamy

Adynamia Episodica Hereditaria With Or Without Myotonia

Familial Hyperkalemic Periodic Paralysis

Hyperkpp

Hyperpp

Adynamia Episodica Hereditaria

Primary Hyperkalemic Periodic Paralysis

Hyperkalemic Periodic Paralysis, Type 2

Sodium Channel Muscle Disease

Familial Hyperpp

Hyperkalemic Pp

Primary Hyperpp

Periodic Paralysis Hyperkalemic

Periodic Paralysis Normokalemic

NKPP

Periodic Paralysis Eukalemic

Paralysis, Hyperkalemic Periodic

Paralysis, Periodic, Hyperkalemic

Potassium Aggravated Myotonia

Episodic Ataxia, Type 2

Episodic Ataxia Type 2

EA2

Apca

Capa

Cerebellopathy, Hereditary Paroxysmal

Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia

Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive

Episodic Ataxia With Nystagmus

Ataxia, Episodic, With Nystagmus

Episodic Ataxia, Nystagmus-Associated

Ataxia, Familial Paroxysmal

Acetazolamide-Responsive Episodic Ataxia Syndrome

Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia

Ataxia, Familial, Paroxysmal

Nystagmus-Associated Episodic Ataxia

Familial Paroxysmal Ataxia

Episodic Ataxia 2

Ea-2

Episodic Ataxia Nystagmus-Associated

Hereditary Paroxysmal Cerebellopathy

Ataxia, Episodic, Type 2

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Familial Periodic Paralysis

Genetic Periodic Paralysis

Paralyses, Familial Periodic

Migraine, Familial Hemiplegic, 3

FHM3

Familial Hemiplegic Migraine 3

Mhp3

Migraine, Hemiplegic, Familial, Type 3

Glycine Encephalopathy

Non-Ketotic Hyperglycinemia

Nonketotic Hyperglycinemia

NKH

GCE

Hyperglycinemia, Nonketotic

Hyperglycinemia Nonketotic

Infantile Glycine Encephalopathy

Encephalopathy, Glycine

Glycine Synthase Deficiency

Nka

Neonatal Glycine Encephalopathy

Classic Glycine Encephalopathy

Neonatal Nkh

Neonatal Non-Ketotic Hyperglycinemia

Infantile Nkh

Infantile Non-Ketotic Hyperglycinemia

Non-Ketotic Hyperglycinaemia

Glycine Cleavage Deficiency

Nonketotic Hyperglycinaemia

Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a

Multiple Pterygium Syndrome, Autosomal Dominant

CPSFS1A

Contractures, Pterygia, And Spondylocarpostarsal Fusion Syndrome 1a

Autosomal Dominant Disease

Contractures, Pterygia, And Variable Skeletal Fusions Syndrome 1a

Cpskf1a

Pterygium Syndrome, Multiple

Autosomal Dominant

Arthrogryposis, Distal, Type 8, Formerly

Da8, Formerly

Autosomal Dominant Multiple Pterygium Syndrome

Distal Arthrogryposis Type 8

Arthrogryposis, Distal, Type 8

Da8

Pterygium Syndrome, Multiple, Autosomal Dominant

Autosomal Dominant Disorder

Dravet Syndrome

Severe Myoclonic Epilepsy Of Infancy

Smei

Severe Myoclonic Epilepsy In Infancy

Epileptic Encephalopathy, Early Infantile, 6

DRVT

Developmental And Epileptic Encephalopathy 6a

Dee6a

Eiee6

Dee6

Developmental And Epileptic Encephalopathy 6

Early Infantile Epileptic Encephalopathy 6

Myoclonic Epilepsy, Severe, Of Infancy

Sme

Severe Myoclonus Epilepsy Of Infancy

Borderline Smei

Smeb

Smeb-M

Smeb-O

Smeb-Sw

Smei-Borderland

Smei-Borderland More Than One Feature

Smei-Borderland-Myoclonic Seizures

Smei-Borderland-Spike Wave

Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures

ICEGTC

Developmental And Epileptic Encephalopathy, 6

Infantile Severe Myoclonic Epilepsy

Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures

Autonomic Nervous System Disease

Autonomic Nervous System Dysfunction

Autonomic Nervous System Disorders

Autonomic Nervous System Disorder

Autonomic Nervous System Diseases

Abnormality Of The Autonomic Nervous System

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Gastroenteritis

Cholera Morbus

Infectious Colitis, Enteritis And Gastroenteritis

Enteritis Due To Astrovirus

Rotaviral Gastroenteritis

Viral Gastroenteritis Due To Rotavirus

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

Epilepsy With Generalized Tonic-Clonic Seizures

Tonic-Clonic Epilepsy

Epileptic Seizures, Tonic-Clonic

Grand Mal Epilepsy

Epilepsy, Tonic-Clonic

Alzheimer Disease 9

AD9

Alzheimer'S Disease 9

Alzheimer Disease 9, Susceptibility To

Alzheimer Disease 9, Late-Onset

Alzheimer'S Disease 9, Late Onset

{Alzheimer Disease 9, Susceptibility To}

Developmental And Epileptic Encephalopathy 7

Epileptic Encephalopathy, Early Infantile, 7

DEE7

Eiee7

Kcnq2-Related Epileptic Encephalopathy

Kcnq2-Related Neonatal Epileptic Encephalopathy

Developmental And Epileptic Encephalopathy, 7

Early Infantile Epileptic Encephalopathy 7

Kcnq2-Nee

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile, Type 7

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Reflex Epilepsy

Epilepsy, Reflex

Epilepsy, Sensory-Induced

Epilepsy Reflex

Migraine With Or Without Aura 1

Migraine

Migraine With Or Without Aura, Susceptibility To, 1

Migraine Disorder

Migraine Variant

Migraines

Migraine Disorders

Mgr1

Mgau

Ma

Migraine With Or Without Aura

Classic Migraine

Common Migraine

Disorder, Migraine

Headache Migraine

Headache Migrainous

Migraine Headache

Migraine Syndrome

Headache Including Migraine

Migraine, Susceptibility To

Episodic Pain Syndrome, Familial, 3

FEPS3

Familial Episodic Pain Syndrome With Predominantly Lower Limb Involvement

Familial Episodic Pain Syndrome 3

Periventricular Nodular Heterotopia

Periventricular Heterotopia

Pvnh

Familial Nodular Heterotopia

Heterotopia, Periventricular

Periventricular Heterotopia, X-Linked

Generalized Epilepsy With Febrile Seizures Plus

Gefs+

Genetic Epilepsy With Febrile Seizures Plus

Generalized Epilepsy With Febrile Seizures-Plus

Genetic Epilepsy With Febrile Seizures-Plus

Epilepsy, Generalized, With Febrile Seizures Plus

Early Myoclonic Encephalopathy

Myoclonic Epilepsy

Myoclonic Seizure

Epilepsies, Myoclonic

Epileptic Seizures - Myoclonic

Epileptic Seizures, Myoclonic

Myoclonia Epileptica

Myoclonic Seizure Disorder

Early Myoclonic Encephalopathy With Suppression-Bursts

Myoclonic Epilepsy Of Lafora

Lafora Disease

Epilepsy, Progressive Myoclonic 2b

EPM2

Melf

Epilepsy, Progressive Myoclonic 2a

Epm2a

Lafora'S Disease

Lafora Body Disease

Lbd

Epilepsy, Progressive Myoclonic, 2a

Lafora Progressive Myoclonic Epilepsy

Epilepsy Progressive Myoclonic 2

Lafora Body Disorder

Pme Type 2

Progressive Myoclonic Epilepsy Type 2

Progressive Myoclonus Epilepsy Type 2

Epilepsy, Progressive Myoclonic 2

Epm2b

Ld

Progressive Myoclonic Epilepsy 2

Progressive Myoclonic Epilepsy 2a

Progressive Myoclonic Epilepsy 2b

Progressive Myoclonic Epilepsy Lafora Type

Epilepsy, Myoclonic, Of Lafora

West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Hemimegalencephaly

Unilateral Megalencephaly

Macrencephaly

Infancy Electroclinical Syndrome
Juvenile Absence Epilepsy

Epilepsy Juvenile Absence

Jae

Childhood Absence Epilepsy

Absence Epilepsy

Developmental And Epileptic Encephalopathy 52

DEE52

Epileptic Encephalopathy, Early Infantile, 52

Eiee52

Developmental And Epileptic Encephalopathy, 52

Early Infantile Epileptic Encephalopathy 52

Neonatal Period Electroclinical Syndrome
Rett Syndrome

Atypical Rett Syndrome

RTT

Rts

Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

Rett Syndrome, Atypical

Rett Syndrome, Preserved Speech Variant

Rett'S Disorder

Rett Syndrome Variant

Rett Disorder

Cerebroatrophic Hyperammonemia

Rett Like Syndrome

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

Rett'S Syndrome

Atypical Rtt

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

Rett Syndrome Preserved Speech Variant

Rett Syndrome Zappella Variant

Rett Syndrome, Zappella Variant

Pervasive Developmental Disorder

Pervasive Development Disorder

Pervasive Developmental Disorders

Pervasive Child Development Disorders

Autistic Behavior

Autism Spectrum Disorders

Autosomal Genetic Disease

Autosomal Hereditary Disorder

Headache

Headache Disorder

Generalized Epilepsy With Febrile Seizures Plus, Type 2

Febrile Seizures, Familial, 3a

GEFSP2

GEFS+2

Generalized Epilepsy With Febrile Seizures Plus 2

Gefs+, Type 2

Generalised Epilepsy With Febrile Seizures Plus 2

Generalised Epilepsy With Febrile Seizures Plus Type 2

Generalized Epilepsy With Febrile Seizures Plus Type 2

FEB3A

Familial Febrile Convulsions 3

Gefs+ Type 2

Epilepsy, Generalized, With Febrile Seizures Plus, Type 2

Febrile Convulsions, Familial, 3a

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Axonal Neuropathy
Familial Hemiplegic Migraine

Hemiplegic Migraine, Familial

Hemiplegic-Ophthalmoplegic Migraine

Fhm

Hemiplegic Migraine Familial

Autosomal Dominant Severe Congenital Neutropenia

Severe Congenital Neutropenia Autosomal Dominant

Neutropenia, Congenital, Severe, Autosomal Dominant

Hypokalemic Periodic Paralysis, Type 1

Hypokalemic Periodic Paralysis

Hokpp

Hypopp

Westphall Disease

HOKPP1

Familial Hypokalemic Periodic Paralysis

Familial Periodic Paralysis

Westphal Disease

Hypokalemic Periodic Paralysis Type 1

Hypokalemic Familial Periodic Paralysis

Periodic Hypokalemic Paralysis

Periodic Paralysis I

Hypokpp

Primary Hypokalemic Periodic Paralysis

Periodic Paralysis Hypokalemic 1

Paralysis, Hypokalemic, Periodic

Paralysis, Hypokalemic, Periodic, Type 1

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy

Specific Developmental Disorder
Febrile Seizures, Familial, 4

FEB4

Convulsions, Familial Febrile, 4

Familial Febrile Seizures 4

Familial Febrile Convulsions 4

Ohtahara Syndrome
Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome

Epilepsy, Familial Temporal Lobe, 5

Familial Temporal Lobe Epilepsy 5

ETL5

Epilepsy, Temporal Lobe, Familial, Type 5

Generalized Epilepsy With Febrile Seizures Plus, Type 7

Febrile Seizures, Familial, 3b

GEFSP7

GEFS+7

Generalized Epilepsy With Febrile Seizures Plus 7

Gefs+, Type 7

Generalised Epilepsy With Febrile Seizures Plus 7

Generalised Epilepsy With Febrile Seizures Plus Type 7

Generalized Epilepsy With Febrile Seizures Plus Type 7

FEB3B

Familial Febrile Convulsions 3

Gefs+ Type 7

Epilepsy, Generalized, With Febrile Seizures Plus, Type 7

Generalized Epilepsy With Febrile Seizures Plus, 7

Early Onset Absence Epilepsy
Encephalopathy

Brain Diseases

Encephalopathies

Toxic Encephalopathy

Toxic Brain Fever

Toxic Brain Inflammation

Toxic Brain Stem Inflammation

Toxic Cerebral Fever

Toxic Cerebrospinal Fever

Toxic Cerebrospinal Inflammation

Encephalopathy Nec

Encephalopathy Nos

Encephalopathy Disease

Encephalopathy Syndrome

Paine Syndrome

Pain Disorder

Pain

Microcephaly With Spastic Diplegia

Pain Syndrome

Spinocerebellar Ataxia 6

Spinocerebellar Ataxia Type 6

SCA6

Type 6 Spinocerebellar Ataxia

Spinocerebellar Ataxia-6

Ataxia, Spinocerebellar, Type 6

Paramyotonia Congenita Of Von Eulenburg

Paramyotonia Congenita

PMC

Paralysis Periodica Paramyotonica

Eulenburg Disease

Myotonia Congenita Intermittens

Von Eulenburg Paramyotonia Congenita

Paralysis Periodica Paramyotonia

Von Eulenberg'S Disease

Paramyotonia Congenita Without Cold Paralysis

Eulenburg Syndrome

Paramyotonia

Neuronal Migration Disorders

Abnormality Of Neuronal Migration

Malformations Of Cortical Development, Group Ii

Neuronal Dysmigration Syndromes

Status Epilepticus

Grand Mal Status Epilepticus

Grand Mal Status

Gcse

Generalized Convulsive Status Epilepticus

Se

Epilepsy With Status Epilepticus

Focal Epilepsy

Partial Epilepsy

Epilepsies, Partial

Localisation-Related Epilepsy

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome

Sudden Unexplained Nocturnal Death Syndrome

Bangungut

Brugada Type Idiopathic Ventricular Fibrillation

Pokkuri Death Syndrome

Sunds

Idiopathic Ventricular Fibrillation, Brugada Type

Sudden Unexplained Death

Dream Disease

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sudden Unexplained Death Syndrome

Suds

Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Trigeminal Nerve Disease

Trigeminal Nerve Diseases

Disorders Of 5th Cranial Nerve

Disorders Of The Fifth Cranial Nerve

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus SCN1A VGNC VGNC:34345
Felis catus SCN1A VGNC VGNC:64920
Canis familiaris SCN1A VGNC VGNC:45915
Mus musculus SCN1A MGD MGI:98246
Rattus norvegicus SCN1A RGD RGD:69364
Macaca mulatta SCN1A VGNC VGNC:76982