KCNT1 - potassium sodium-activated channel subfamily T member 1 Gene

Homo sapiens

Also known as DEE14; ENFL5; SLACK; EIEE14; KCa4.1; Slo2.2; bA100C15.2

Gene ID: 57582 | Gene type: protein coding

About KCNT1

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:135,702,185-135,795,502 (from NCBI)

This gene has 32 transcripts (splice variants), 259 orthologues, 3 paralogues and is associated with 6 phenotypes. Biased expression in brain (RPKM 4.3), spleen (RPKM 2.1) and 2 other tissues.

Summary

Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, Insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a sodium-activated Potassium Channel subunit which is thought to function in ion conductance and developmental signaling pathways. Mutations in this gene cause the early-onset epileptic disorders, malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

KCNT1 Products(2)

mRNA	Protein	Name
NM_001272003.2	NP_001258932.1	potassium channel subfamily T member 1 isoform 2
NM_020822.3	NP_065873.2	potassium channel subfamily T member 1 isoform 1

KCNT1 Protein Structure

Ion_trans_2

BK_channel_a

0
200
400
600
800
1000
1235 a.a.

Protein Preferred Names

Protein Names

potassium channel subfamily T member 1

Sequence like a calcium-activated K+ channel

Related Diseases

Diseases

Alias

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

Epilepsy, Nocturnal Frontal Lobe, 5

ENFL5	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 5
Epilepsy Nocturnal Frontal Lobe, 5	Nocturnal Frontal Lobe Epilepsy 5
Epilepsy, Frontal Lobe, Nocturnal, Type 5

Ciliary Dyskinesia, Primary, 28

Primary Ciliary Dyskinesia 28	CILD28
Primary Ciliary Dyskinesia 28 With Or Without Situs Inversus	Ciliary Dyskinesia, Primary, 28, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 28, Without Situs Inversus	Dyskinesia, Ciliary, Primary, 28

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

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

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy	Benign 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

Focal Epilepsy

Partial Epilepsy	Epilepsies, Partial
Localisation-Related Epilepsy

Partial Motor Epilepsy

Epilepsy, Partial, Motor	Epilepsy, Focal Motor
Focal Motor Seizure

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

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

Infancy Electroclinical Syndrome

Developmental And Epileptic Encephalopathy 8

DEE8	Epileptic Encephalopathy, Early Infantile, 8
Eiee8	Hyperekplexia And Epilepsy
Developmental And Epileptic Encephalopathy, 8	Early Infantile Epileptic Encephalopathy 8
Hyperekplexia-Epilepsy Syndrome	Hyperekplexia With Epilepsy
Startle Disease With Epilepsy	Encephalopathy, Epileptic, Early Infantile, Type 8

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Neonatal Period Electroclinical Syndrome

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

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]

Immunodeficiency 34

Atypical Mycobacteriosis, Familial, X-Linked 2	X-Linked Mendelian Susceptibility To Mycobacterial Diseases Due To Cybb Deficiency
IMD34	Amcbx2
Immunodeficiency 34, Mycobacteriosis, X-Linked	X-Linked Msmd Due To Cybb Deficiency
Familial Atypical Mycobacteriosis X-Linked 2	Familial, X-Linked, Atypical Mycobacteriosis 2
Familial Disseminated Atypical Mycobacterial Infection X-Linked 2	Mendelian Susceptibility To Mycobacterial Disease X-Linked 2
X-Linked Immunodeficiency 34, Mycobacteriosis	Immunodeficiency, Type 34, Mycobacteriosis, X-Linked

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

Childhood Electroclinical Syndrome

Lennox-Gastaut Syndrome

Lennox Syndrome	Encephalopathy Of Childhood
Epileptic Encephalopathy Lennox-Gastaut Type	Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves
Lgs

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 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

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

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

Dystonia 25

DYT25	Dystonia-25
Dystonia, Type 25

Torsion Dystonia 2

Dystonia 2, Torsion, Autosomal Recessive

Fructose-1,6-Bisphosphatase Deficiency

Fructose-1,6-Diphosphatase Deficiency	Baker-Winegrad Disease
FBP1D	Fbpase Deficiency
Fructose 1,6 Diphosphatase Deficiency	Fructose 1 Phosphate Aldolase Deficiency
Fbp1 Deficiency	Hereditary Fructose Intolerance Syndrome

Molybdenum Cofactor Deficiency, Complementation Group A

MOCODA	Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type A
Molybdenum Cofactor Deficiency A	Molybdenum Cofactor Deficiency Type A
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type A	Mocod Type A
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase	Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase, Combined Deficiency Of
Molybdenum Cofactor Deficiency Complementation Group A	Molybdenum Cofactor Deficiency, Type A
Deficiency, Molybdenum Cofactor, Complementation Group A

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

Dravet Syndrome

Severe Myoclonic Epilepsy Of Infancy	Severe Myoclonic Epilepsy In Infancy
Smei	Epileptic Encephalopathy, Early Infantile, 6
DRVT	Developmental And Epileptic Encephalopathy 6a
Dee6a	Eiee6
Developmental And Epileptic Encephalopathy, 6	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
Infantile Severe Myoclonic Epilepsy	Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures

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

Photosensitive Epilepsy

Pse	Photogenic Epilepsy
Photoparoxysmal Response	Reflex Epilepsy, Photosensitive
Photoparoxysmal Response 1

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

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

Childhood Absence Epilepsy

Pyknolepsy	Petit Mal Epilepsy
Absence Seizures	Absence Seizure
Petit Mal Seizure	Absence Epilepsy, Childhood
Pykno-Epilepsy	Epilepsy, Absence
Absence Epilepsy	Pycnolepsy

Progressive Myoclonus Epilepsy

Pme	Progressive Myoclonic Epilepsy
Myoclonic Epilepsies, Progressive	Unverricht-Lundborg Syndrome

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

Familial Febrile Seizures

Familial Febrile Convulsions	Feb
Febrile Seizures, Familial

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]

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07181	KCNT1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	KCNT1	RGD	RGD:621106
Mus musculus	KCNT1	MGD	MGI:1924627
Macaca mulatta	KCNT1	VGNC	VGNC:73856
Canis familiaris	KCNT1	VGNC	VGNC:42295
Bos taurus	KCNT1	VGNC	VGNC:30494
Felis catus	KCNT1	VGNC	VGNC:63047