SCN4A - sodium voltage-gated channel alpha subunit 4 Gene

Also Known as HYPP; SkM1; CMS16; HYKPP; NAC1A; HOKPP2; Nav1.4; Na(V)1.4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6329

About SCN4A

Cytogenetic location: 17q23.3 Genomic coordinates (GRCh38): 17:63,938,554-63,972,918 (from NCBI)

This gene has 3 transcripts (splice variants), 191 orthologues, 26 paralogues and is associated with 16 phenotypes. Biased expression in fat (RPKM 9.2), thyroid (RPKM 1.5) and 3 other tissues.

Summary

Voltage-gated sodium channels are Transmembrane Glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the Sodium Channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]

SCN4A Products (1)

mRNA Protein Name
NM_000334.4 NP_000325.4 sodium channel protein type 4 subunit alpha
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
30190309 GOA
enables voltage-gated sodium channel activity IDA
IDA: Inferred from direct assay
12766226 GOA
Biological Process GO Annotation Evidence References Source
involved in regulation of skeletal muscle contraction by action potential IMP
IMP: Inferred from mutant phenotype
12766226 GOA
involved in sodium ion transmembrane transport IDA
IDA: Inferred from direct assay
12766226 GOA
Cellular Component GO Annotation Evidence References Source
located in plasma membrane IDA
IDA: Inferred from direct assay
12766226 GOA
part of voltage-gated sodium channel complex IDA
IDA: Inferred from direct assay
30190309 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SCN4A Protein Structure

Ion_trans

Ion_trans: Ion transport protein (160 - 446)

Ion_trans

Ion_trans: Ion transport protein (614 - 800)

Na_trans_assoc

Na_trans_assoc: Sodium ion transport-associated (816 - 1041)

Ion_trans

Ion_trans: Ion transport protein (1067 - 1294)

Ion_trans

Ion_trans: Ion transport protein (1388 - 1597)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1836 a.a.
Protein Preferred Names Protein Names

sodium channel protein type 4 subunit alpha

  • CTC-264K15.6

  • skeletal muscle sodium channel alpha subunit

  • skeletal muscle voltage-dependent sodium channel type IV alpha subunit

  • sodium channel protein skeletal muscle subunit alpha

  • sodium channel protein type IV subunit alpha

  • sodium channel, voltage-gated, type IV, alpha subunit

  • voltage-gated sodium channel subunit alpha Nav1.4

SCN4A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SCN4A P35499 SCN1B Homo sapiens Q07699-1
GMS
30190309
Intra
SCN4A P35499 SCN1B Homo sapiens Q07699-1 30190309
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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

Charcot-Marie-Tooth Disease
  • Cmt

  • Hmsn

  • Hereditary Motor And Sensory Neuropathy

  • Pma

  • Cmt - Charcot-Marie-Tooth Disease

  • Charcot Marie Tooth Disease

  • Charcot-Marie-Tooth Hereditary Neuropathy

  • Charcot-Marie-Tooth Syndrome

  • Peroneal Muscular Atrophy

  • Hereditary Motor And Sensory Neuropathies

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

Metal Metabolism Disorder
  • Metal Metabolism, Inborn Errors

  • Inborn Metal Metabolism Disorder

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

Isolated Elevated Serum Creatine Phosphokinase Levels
  • Elevated Serum Cpk

  • Idiopathic Hyperckemia

  • Isolated Hyperckemia

  • Elevated Serum Creatine Phosphokinase

  • H-Ck

  • Idiopathic Persistent Elevation Of Serum Creatine Kinase

Hyperekplexia 4
  • HKPX4

Postsynaptic Congenital Myasthenic Syndromes
  • Congenital Myasthenic Syndromes, Postsynaptic

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

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

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

Dilated Cardiomyopathy
  • Familial Dilated Cardiomyopathy

  • Primary Dilated Cardiomyopathy

  • Idiopathic Dilated Cardiomyopathy

  • Congestive Cardiomyopathy

  • Idiopathic Dilation Cardiomyopathy

  • Primary Familial Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated

  • DCM

  • Cardiomyopathy, Familial Dilated

  • Dilated Cardiomyopathy, Familial

  • Hypokinetic Dilated Cardiomyopathy, Familial

  • Familial Idiopathic Cardiomyopathy

  • Fdc

  • Cardiomyopathy, Familial Idiopathic

  • Idiopathic Cardiomegaly

  • Dilated Congestive Cardiomyopathy

  • Chronic Dilated Cardiomyopathy

  • Ccm - [Congestive Cardiomyopathy]

  • Cocm - [Congestive Cardiomyopathy]

  • Dcm - [Dilated Cardiomyopathy]

  • Dilated-Hypokinetic Cardiomyopathy

  • Congestive Idiopathic Cardiomyopathy

  • Primary Idiopathic Dilated Cardiomyopathy

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

Batten-Turner Congenital Myopathy
  • Congenital Myopathy

  • Batten Turner Congenital Myopathy

  • Myopathy Congenital

  • Myopathy, Congenital

  • Myotonia Congenita

  • Benign Congenital Myopathy

Distal Arthrogryposis
  • Arthrogryposis Multiplex Congenita

  • Arthrogryposis

  • Congenital Multiple Arthrogryposis

  • Congenital Arthromyodysplasia

  • Fibrous Ankylosis Of Multiple Joints

  • Guerin-Stern Syndrome

  • Guérin-Stern Syndrome

  • Myodystrophia Fetalis Deformans

  • Otto Syndrome

  • Rocher-Sheldon Syndrome

  • Rossi Syndrome

  • Amc

  • Multiple Congenital Arthrogryposis

  • Arthrogryposis Syndrome

  • Arthrogryposis, Distal

  • Distal Arthrogryposis Syndrome

  • Freeman-Sheldon Syndrome

  • Arthrogryposis, Distal, Type 2b

  • Congenital Multiplex Arthrogryposis

  • Amyoplasia Congenita

  • Congenital Amyoplasia

  • Amc - [Arthrogryposis Multiplex Congenita]

Congenital Fiber-Type Disproportion
  • Congenital Fiber Type Disproportion

  • Cftdm

  • Congenital Myopathy With Fiber Type Disproportion

  • Cftd

  • Congenital Fiber-Type Disproportion Myopathy

  • Fiber-Type Disproportion Myopathy, Congenital

  • Myopathy, Congenital With Fiber-Type Disproportion

Familial Hemiplegic Migraine
  • Hemiplegic Migraine, Familial

  • Hemiplegic-Ophthalmoplegic Migraine

  • Fhm

  • Hemiplegic Migraine Familial

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

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Myasthenic Syndrome, Congenital, 16
  • Congenital Myasthenic Syndrome 16

  • CMS16

  • Myasthenic Syndrome, Congenital, Acetazolamide-Responsive

  • Congenital Myasthenic Syndrome Acetazolamide-Responsive

  • Congenital Myasthenic Syndrome Due To Mutation In Scn4a

  • Congenital Myasthenic Syndrome Scn4a-Related

Paine Syndrome
  • Pain Disorder

  • Pain

  • Microcephaly With Spastic Diplegia

  • Pain Syndrome

Myasthenic Syndrome, Congenital, 5
  • Endplate Acetylcholinesterase Deficiency

  • Congenital Myasthenic Syndrome 5

  • CMS5

  • Ead

  • Engel Congenital Myasthenic Syndrome

  • Myasthenic Syndrome, Congenital, Engel Type

  • Cms Ic

  • Congenital Myasthenic Syndrome Type Ic

  • Congenital Myasthenic Syndrome Type Ic, Formerly

  • Cms1c, Formerly

  • Cms Ic, Formerly

  • Congenital Myasthenic Syndrome Engel Type

  • End Plate Acetylcholinesterase Deficiency

  • Synaptic Congenital Myasthenic Syndromes

  • Cms1c

  • Cmse

  • Congenital Myasthenic Syndrome Type 1c

  • End-Plate Acetylcholinesterase Deficiency

  • Myasthenic Syndrome, Congenital, Type 5

Tremor, Hereditary Essential, 6
  • ETM6

  • Tremor, Hereditary Essential 6

  • Tremor, Hereditary Essential, Type 6

Neuromuscular Junction Disease
  • Neuromuscular Junction Diseases

Trigeminal Neuralgia
  • Tic Douloureux

  • Trifacial Neuralgia

  • Trifocal Neuralgia

  • Neuralgia Of The Fifth Cranial Nerve

  • Neuralgia Of 5th Cranial Nerve

  • Infraorbital Neuralgia

Graves Disease 1
  • Thyrotoxicosis

  • Graves Disease, Susceptibility To, 1

  • GRD1

  • Grd

  • Hyperthyroidism, Autoimmune

  • Hyperthyroidism

  • Hyperactive Thyroid Gland

  • Overactive Thyroid

  • Toxic Diffuse Goitre

  • Toxic Primary Thyroid Hyperplasia

  • Stokes Disease

  • Thyrotoxicosis With Goitre

  • Thyrotoxicosis Struma

  • Graves Disease

  • Goitre With Hyperthyroidism

  • Basedow Disease

  • Exophthalmic Goitre

  • Exophthalmic Struma

  • Flajani Disease

  • Graves Disease With Exophthalmos

  • Hyperthyroid Goitre

  • Hyperthyroidism Struma

  • Thyroid Exophthalmos

  • Malignant Exophthalmos

  • Parry Disease

  • Toxic Diffuse Goitre With Exophthalmos

  • Toxic Goitre

  • Toxic Goitre Nos

  • Thyrotoxicosis Due To Uninodular Goitre

  • Toxic Thyroid Nodule

  • Toxic Uninodular Goitre

  • Uninodular Toxic Struma

  • Uninodular Toxic Struma With Hyperthyroidism

  • Thyrotoxicosis Due To Single Thyroid Nodule

  • Toxic Uninodular Goitre With Hyperthyroidism

  • Hyperthyroidism With Thyroid Nodule

  • Thyrotoxicosis With Toxic Uninodular Goitre

  • Uninodular Goitre In Hyperthyroidism

  • Uninodular Goitre In Thyrotoxicosis

  • Toxic Multinodular Goitre

  • Multinodular Goitre With Thyrotoxicosis

  • Thyrotoxicosis Nodular Goitre

  • Nodular Goitre With Thyrotoxicosis

  • Adenomatous Goitre With Hyperthyroidism

  • Multinodular Goitre With Hyperthyroidism

  • Nodular Goitre With Hyperthyroidism

  • Nodular Struma With Hyperthyroidism

  • Plummer Disease

  • Thyrotoxicosis Adenomatous Goitre

  • Thyrotoxicosis Adenomatous Struma

  • Toxic Adenomatous Goitre

  • Toxic Adenomatous Struma

  • Toxic Nodular Goitre Nos

  • Toxic Struma Nodosa

  • Toxic Nodular Struma

Congenital Myasthenic Syndrome
  • Congenital Myasthenia

  • Congenital Myasthenic Syndromes

  • Cms

  • Myasthenic Syndromes, Congenital

  • Myasthenic Syndromes Congenital

  • Myasthenic Syndrome, Congenital

  • Congenital Myasthenic Syndrome Ib

  • Congenital And Developmental Myasthenia

  • Developmental Myasthenia

Somatoform Disorder
  • Physiological Malfunction Arising From Mental Factor

  • Psychosomatic Disorder

  • Psychophysiologic Disorders

Maxillonasal Dysplasia, Binder Type
  • Binder Syndrome

  • Binder Type Maxillonasal Dysplasia

  • Maxillonasal Dysplasia

  • Maxillonasal Dysostosis

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]

Long Qt Syndrome
  • Romano-Ward Syndrome

  • Long Q-T Syndrome

  • Lqt

  • Qt Syndrome, Long

  • Congenital Long Qt Syndrome

  • Familial Long Qt Syndrome

Normokalemic Periodic Paralysis
  • Normokalemic Periodic Paralysis, Potassium-Sensitive

Amyotrophic Lateral Sclerosis 1
  • Amyotrophic Lateral Sclerosis

  • ALS

  • Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis Type 1

  • Charcot Disease

  • ALS1

  • Amyotrophic Lateral Sclerosis, Susceptibility To

  • Fals

  • Lou Gehrig'S Disease

  • Mnd

  • Motor Neuron Disease

  • Familial Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis 1, Familial

  • Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

  • Motor Neuron Disease, Bulbar

  • Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis With Dementia

  • Dementia With Amyotrophic Lateral Sclerosis

  • Motor Neuron Disease, Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic

  • Sclerosis, Lateral, Amyotrophic, Type 1

  • Amyotrophic Sclerosis

  • Als - [Amyotrophic Lateral Sclerosis]

  • Wasting Palsy

  • Amyotrophic Paralysis

  • Amyotrophy Lateral Sclerosis

  • Wasting Paralysis

  • Spinal Progressive Amyotrophy

  • Progressive Atrophic Paralysis

Developmental And Epileptic Encephalopathy
  • Encephalopathy, Developmental And Epileptic

Episodic Pain Syndrome, Familial, 2
  • FEPS2

  • Familial Episodic Pain Syndrome 2

Spinal Cord Lipoma
  • Lipoma Of Spinal Cord

Myotonia Congenita
  • Congenital Myotonia, Autosomal Dominant Form

  • Congenital Myotonia

  • Thomsen And Becker Disease

  • Thomsen Disease

  • Thomsen'S Disease

  • Generalized Myotonia Of Thomsen

  • Congenital Myotonic Muscular Dystrophy

  • Myotonia Congenita Nos

Long Qt Syndrome 1
  • Romano-Ward Syndrome

  • LQT1

  • Ward-Romano Syndrome

  • Rws

  • Ventricular Fibrillation With Prolonged Qt Interval

  • Wrs

  • Long Qt Syndrome 1, Acquired, Susceptibility To

  • Long Qt Syndrome 1, Acquired

  • Romano-Ward Long Qt Syndrome

  • Long Qt Syndrome Type 1

  • Long Qt Syndrome-1

  • Acquired Susceptibility To Long Qt Syndrome 1

  • Qt Syndrome, Long, Type 1

Hypokalemia
  • Potassium Deficiency

  • Potassium Deficiency Disorder

  • Hypopotassemia

  • Potassium

  • Potassium [K] Deficiency

  • Hypokalaemic Syndrome

  • Hypopotassaemia

  • Hypopotassaemia Syndrome

  • Hypokalaemic

  • Potassium Depletion

Long Qt Syndrome 3
  • LQT3

  • Long Qt Syndrome Type 3

  • Long Qt Syndrome-3

  • Qt Syndrome, Long, Type 3

Myotonic Disease
  • Myotonic Disorders

  • Myotonic Syndrome

  • Symptomatic Myotonia

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

Erythromelalgia
  • Primary Erythromelalgia

  • Erythermalgia

  • Primary Erythermalgia

  • Mitchell Disease

  • Familial Erythromelalgia

Ptosis
  • Blepharoptosis

  • Drooping Eyelid

  • Droopy Eyelid

  • Ptosis Of Eyelid

  • Paralysis Of Levator Palpebrae Superioris

Hypokalemic Periodic Paralysis, Type 2
  • HOKPP2

  • Periodic Paralysis Hypokalemic 2

  • Paralysis, Hypokalemic, Periodic, Type 2

Periodic Paralysis
  • Westphal Disease

  • Periodic Myotonia

  • Myoplegic Dystrophy

  • Familial Recurrent Paralysis

  • Familial Myoplegia

  • Cavare Disease

  • Cavarre Disease

  • Familial Paralysis

  • Familial Periodic Paralysis

  • Myotonic Periodic Paralysis

Malignant Hyperthermia
  • Anesthesia Related Hyperthermia

  • Malignant Hyperpyrexia Due To Anesthesia

  • Hyperpyrexia, Malignant

  • Hyperthermia, Malignant

  • Malignant Hyperpyrexia

  • Mhs

  • Malignant Fever

Cenani-Lenz Syndactyly Syndrome
  • Syndactyly Type 7

  • Cenani Syndactylism

  • Cenani-Lenz Syndactyly

  • CLSS

  • Syndactyly Cenani Lenz Type

  • Cenani-Lenz Syndrome

  • Syndactyly, Type Vii

  • Cenani-Lenz Type Syndactyly

  • Cenani Syndactyly

  • Syndactyly Type Vii

Familial Periodic Paralysis
  • Genetic Periodic Paralysis

  • Paralyses, Familial Periodic

Migraine, Familial Hemiplegic, 3
  • FHM3

  • Familial Hemiplegic Migraine 3

  • Mhp3

  • Migraine, Hemiplegic, Familial, Type 3

Myotonic Dystrophy 2
  • Myotonic Dystrophy Type 2

  • Proximal Myotonic Myopathy

  • Promm

  • Ricker Syndrome

  • DM2

  • Dystrophia Myotonica 2

  • Myotonic Myopathy, Proximal

  • Myotonic Disorders

  • Dystrophia Myotonica Type 2

  • Proximal Myotonic Dystrophy

  • Ricker Disease

  • Myotonic Dystrophy, Type 2

  • Dystrophy, Myotonic, Type 2

Essential Tremor
  • Benign Essential Tremor

  • Familial Tremor

  • Hereditary Essential Tremor

  • Essential Hereditary Tremor

  • Shaky Hand Syndrome

  • Benign Essential Tremor Syndrome

  • Tremor Hereditary Essential

  • Essential Tremor, Susceptibility To

  • Tremor, Hereditary Essential

Myotonia
Fetal Akinesia Deformation Sequence 1
  • Fetal Akinesia Deformation Sequence

  • Fads

  • Fetal Akinesia Sequence

  • FADS1

  • Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia

  • Pena-Shokeir Syndrome Type 1

  • Fetal Akinesia Deformation Sequence Syndrome

  • Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome

  • Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia

  • Pena-Shokeir Syndrome, Type I

  • Foetal Akinesia Deformation Sequence Syndrome

  • Foetal Akinesia Sequence

  • Fetal Akinesia Deformation Sequence Syndrome 1

  • Pena-Shokeir Syndrome, Type 1

  • Pena Shokeir Syndrome, Type 1

  • Akinesia, Fetal, Deformation Sequence

  • Akinesia, Fetal, Deformation Sequence, Type 1

  • Pena-Shokeir Syndrome Type I

Endomyocardial Fibrosis
  • Becker'S Disease

  • Obscure African Cardiomyopathy

  • African Endomyocardial Fibrosis

  • Endomyocardial Sclerosis

  • EMF

  • Becker Muscular Dystrophy

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

Severe Congenital Neutropenia 4
  • Autosomal Recessive Severe Congenital Neutropenia Due To G6pc3 Deficiency

  • Scn4

  • Severe Congenital Neutropenia-Pulmonary Hypertension-Superficial Venous Angiectasis Syndrome

  • Dursun Syndrome

  • Severe Congenital Neutropenia Type 4

Sotos Syndrome
  • Cerebral Gigantism

  • SOTOS

  • Chromosome 5q35 Deletion Syndrome

  • Sotos Syndrome 1, Formerly

  • Sotos1, Formerly

  • Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development

  • Sotos Sequence

  • Sotos' Syndrome

  • Sotos1

  • Sotos Syndrome 1

Trigeminal Nerve Disease
  • Trigeminal Nerve Diseases

  • Disorders Of 5th Cranial Nerve

  • Disorders Of The Fifth Cranial Nerve

Myotonia, Potassium-Aggravated
  • Myotonia Fluctuans

  • Myotonia Permanens

  • Myotonia Congenita, Atypical, Acetazolamide-Responsive

  • Potassium-Aggravated Myotonia

  • Potassium Aggravated Myotonia

  • Sodium Channel Muscle Disease

  • Myotonia Congenita, Acetazolamide-Responsive

  • Myotonia Congenita, Atypical

  • Pam

  • Sodium Channel Myotonia

  • K+-Aggravated Myotonia

  • K-Aggravated Myotonia

  • Exercise-Induced Delayed-Onset Myotonia

  • Fluctuating Myotonia

  • Acetazolamide-Responsive Myotonia

  • Acz-Responsive Congenital Myotonia

  • Acz-Responsive Myotonia

  • Acetazolamide-Responsive Congenital Myotonia

  • Myotonia-Painful Contractions Syndrome

  • Painful Congenital Myotonia

  • Painful Myotonia

  • Myotonia Scn4a-Related

  • MYOSCN4A

  • Myotonia Congenita Acetazolamide-Responsive

  • Myotonia Congenita Atypical

  • Myotonia Potassium-Aggravated

  • Scm

  • Hyperkalemic Periodic Paralysis

Sotos Syndrome 1
  • Sotos1

  • Sotos Syndrome, Type 1

  • Sotos' Syndrome

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

Andersen Cardiodysrhythmic Periodic Paralysis
  • Andersen Syndrome

  • Andersen-Tawil Syndrome

  • LQT7

  • Long Qt Syndrome 7

  • Ats

  • Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type

  • Long Qt Syndrome Type 7

  • Andersen Tawil Syndrome

  • Potassium-Sensitive Cardiodysrhythmic Type

  • Lqts Type 7

  • Long Qt Syndrome-7

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

Myopathy
  • Muscular Diseases

  • Myopathies

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 SCN4A VGNC VGNC:34350
Canis familiaris SCN4A VGNC VGNC:45920
Rattus norvegicus SCN4A RGD RGD:3636
Mus musculus SCN4A MGD MGI:98250
Macaca mulatta SCN4A VGNC VGNC:76986
Felis catus SCN4A VGNC VGNC:64924
Others SCN4A NCBI