SCN8A - sodium voltage-gated channel alpha subunit 8 Gene

Also Known as MED; PN4; CIAT; BFIS5; DEE13; NaCh6; CERIII; EIEE13; MYOCL2; Nav1.6

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6334

About SCN8A

Cytogenetic location: 12q13.13 Genomic coordinates (GRCh38): 12:51,591,233-51,812,864 (from NCBI)

This gene has 19 transcripts (splice variants), 276 orthologues, 26 paralogues and is associated with 8 phenotypes. Biased expression in brain (RPKM 8.0), testis (RPKM 1.0) and 2 other tissues.

Summary

This gene encodes a member of the Sodium Channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated Sodium Channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

SCN8A Products (5)

mRNA	Protein	Name
NM_001330260.2	NP_001317189.1	sodium channel protein type 8 subunit alpha isoform 3
NM_014191.4	NP_055006.1	sodium channel protein type 8 subunit alpha isoform 1
NM_001177984.3	NP_001171455.1	sodium channel protein type 8 subunit alpha isoform 2
NM_001369788.1	NP_001356717.1	sodium channel protein type 8 subunit alpha isoform 4
NM_175894.2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22364545	GOA
enables sodium ion binding	IDA IDA: Inferred from direct assay	36823201	GOA
enables voltage-gated sodium channel activity	IDA IDA: Inferred from direct assay	21078353	GOA
enables voltage-gated sodium channel activity	IMP IMP: Inferred from mutant phenotype	25725044	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in action potential	IDA IDA: Inferred from direct assay	29726066	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	29726066	GOA
part of voltage-gated sodium channel complex	IDA IDA: Inferred from direct assay	36696443	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

SCN8A Protein Structure

Ion_trans

Na_trans_cytopl

Ion_trans

Na_trans_assoc

Ion_trans

0
400
800
1200
1600
1980 a.a.

Protein Preferred Names	Protein Names
sodium channel protein type 8 subunit alpha	hNa6/Scn8a voltage-gated sodium channel sodium channel, voltage gated, type VIII, alpha subunit voltage-gated sodium channel subunit alpha Nav1.6 voltage-gated sodium channel type VIII alpha protein

SCN8A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	SCN8A	Q9UQD0	FGF14	Homo sapiens	Q92915-2	Split-Luc	22364545

Cross: Cross-species interaction Intra: Intraspecies interaction

SCN8A Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P810924	Nav1.6 Antibody	WB, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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
Familial Hemiplegic Migraine	Hemiplegic Migraine, Familial Hemiplegic-Ophthalmoplegic Migraine Fhm Hemiplegic Migraine Familial
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
Hyperekplexia	Hereditary Hyperekplexia Kok Disease Congenital Stiff Man Syndrome Familial Startle Disease Sthe Stiff-Baby Syndrome Hereditary Hyperexplexia Startle Disease Exaggerated Startle Reaction Hyperexplexia Hereditary Startle Disease, Familial Startle Reaction, Exaggerated Stiff-Man Syndrome, Congenital Stiff-Person Syndrome, Congenital Congenital Stiff-Man Syndrome Congenital Stiff-Person Syndrome Familial Hyperekplexia Startle Syndrome Stiff Baby Syndrome Hyperekplexia, Hereditary Stiff-Person Syndrome
Ohtahara Syndrome
Non-Specific Early-Onset Epileptic Encephalopathy	Undetermined Early-Onset Epileptic Encephalopathy Non-Specific Eoee Undetermined Eoee
Focal Epilepsy	Partial Epilepsy Epilepsies, Partial Localisation-Related Epilepsy
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Amblyopia	Lazy Eye
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
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Febrile Seizures	Febrile Seizure Febrile Convulsions Seizures Febrile
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
Somatoform Disorder	Physiological Malfunction Arising From Mental Factor Psychosomatic Disorder Psychophysiologic Disorders
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
Lennox-Gastaut Syndrome	Epileptic Encephalopathy Lennox-Gastaut Type Lennox Syndrome Encephalopathy Of Childhood Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves Lgs
Trigeminal Nerve Disease	Trigeminal Nerve Diseases Disorders Of 5th Cranial Nerve Disorders Of The Fifth Cranial Nerve
Partial Motor Epilepsy	Epilepsy, Partial, Motor Epilepsy, Focal Motor Focal Motor Seizure
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
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
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
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
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
Erythromelalgia	Primary Erythromelalgia Erythermalgia Primary Erythermalgia Mitchell Disease Familial Erythromelalgia
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
Cognitive Impairment With Or Without Cerebellar Ataxia	CIAT Cognitive Impairment Without Cerebellar Ataxia
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
Pulpitis	Pulp Stones Pulpitis Nos
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
Aceruloplasminemia	Cerebellar Ataxia Hypoceruloplasminemia Hemosiderosis, Systemic, Due To Aceruloplasminemia Familial Apoceruloplasmin Deficiency Hereditary Ceruloplasmin Deficiency Deficiency Of Ferroxidase Hypoceruloplasminemia, Hereditary Ceruloplasmin Deficiency Systemic Hemosiderosis Due To Aceruloplasminemia ACERULOP
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
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
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Paine Syndrome	Pain Disorder Pain Microcephaly With Spastic Diplegia Pain Syndrome
Photosensitive Epilepsy	Pse Photogenic Epilepsy Photoparoxysmal Response Reflex Epilepsy, Photosensitive Photoparoxysmal Response 1
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
Severe Congenital Neutropenia 8	Autosomal Dominant Severe Congenital Neutropenia 8 With Or Without Pancreatic Dysfunction And/Or Neurological Abnormalities Scn8 Sdsl Shwachman-Diamond Syndrome-Like
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
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
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
Progressive Myoclonus Epilepsy	Pme Progressive Myoclonic Epilepsy Myoclonic Epilepsies, Progressive Unverricht-Lundborg Syndrome
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
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
Severe Congenital Neutropenia 6	Autosomal Recessive Severe Congenital Neutropenia Due To Jagn1 Deficiency Scn6
Migraine, Familial Hemiplegic, 3	FHM3 Familial Hemiplegic Migraine 3 Mhp3 Migraine, Hemiplegic, Familial, Type 3
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
Myoclonus
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
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
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
Developmental And Epileptic Encephalopathy 47	DEE47 Epileptic Encephalopathy, Early Infantile, 47 Eiee47 Developmental And Epileptic Encephalopathy, 47 Early Infantile Epileptic Encephalopathy 47
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Visual Pathway Disease	Disorder Of Visual Pathways
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
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis	ICCA Icca Syndrome Infantile Convulsions And Choreoathetosis Infantile Convulsions And Paroxysmal Choreoathetosis, Familial Pkd/Ic Familial Infantile Convulsions And Paroxysmal Choreoathetosis Paroxysmal Kinesigenic Dyskinesia With Infantile Convulsions Convulsions, Infantile, With Paroxysmal Choreoathetosis, Familial Paroxysmal Kinesigenic Dyskinesia And Infantile Convulsions Icca Syndrome Paroxysmal Kinesigenic Dyskinesia With Infantile Convulsions Dyskinetic Syndrome
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
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
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
Myoclonus, Familial, 2	MYOCL2
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Spinocerebellar Ataxia 27	Spinocerebellar Ataxia Type 27 SCA27 Cerebellar Ataxia Autosomal Dominant Fgf14-Related Cerebellar Ataxia, Autosomal Dominant, Fgf14-Related Spinocerebellar Ataxia-27 Ataxia, Spinocerebellar, Type 27
Visual Cortex Disease	Visual Cortex Dysfunction Visual Cortex Disorder Visual Cortical Disorder Disease Of Visual Cortex
Aicardi Syndrome	AIC Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality Agenesis Of Corpus Callosum With Chorioretinal Abnormality Aicardi'S Syndrome Agenesis Of Corpus Callosum With Infantile Spasms And Ocular Abnormalities Callosal Agenesis And Ocular Abnormalities Chorioretinal Anomalies With Acc
Episodic Pain Syndrome, Familial, 3	FEPS3 Familial Episodic Pain Syndrome With Predominantly Lower Limb Involvement Familial Episodic Pain Syndrome 3
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
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
Melanoma	Malignant Melanoma Cutaneous Melanoma Naevocarcinoma Malignant Melanomas
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
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]
Infancy Electroclinical Syndrome
Autosomal Dominant Severe Congenital Neutropenia	Severe Congenital Neutropenia Autosomal Dominant Neutropenia, Congenital, Severe, Autosomal Dominant
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
Seizures, Benign Familial Infantile, 5	BFIS5 Convulsions, Benign Familial Infantile, 5 Bfic5 Benign Familial Infantile Seizures 5 Benign Familial Infantile Seizures, 5 Benign Familial Infantile Convulsions 5

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

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (2)

Art. -Nr.	Produktname	Wirkung	Reinheit	Phase
HY-148792	Relutrigine	Inhibitor	99.33%	Phase 3
HY-147423	Zandatrigine	Inhibitor	99.28%	Phase 2

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS12545	SCN8A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS12546	Scn8a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS12547	Scn8a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SCN8A	MGD	MGI:103169
Canis familiaris	SCN8A	VGNC	VGNC:45923
Rattus norvegicus	SCN8A	RGD	RGD:3638
Bos taurus	SCN8A	VGNC	VGNC:34354
Felis catus	SCN8A	VGNC	VGNC:64927
Macaca mulatta	SCN8A	VGNC	VGNC:76989
Others	SCN8A	NCBI