KCNT1 Chromosome 9
Potassium sodium-activated channel subfamily T member 1
Upload your DNA to see your personal genotypes for variants in KCNT1.
What This Gene Does
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]
Gene Info
Gene Group
Potassium sodium-activated channel subfamily T
Locus Type
gene with protein product
Location
9q34.3
Ensembl
ENSG00000107147
Associated Conditions (25)
Developmental and epileptic encephalopathy
14
Autosomal dominant nocturnal frontal lobe epilepsy 5
Inborn genetic diseases
Intellectual disability
See cases
Self-limited epilepsy with centrotemporal spikes
KCNT1-related disorder
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Focal epilepsy
Hearing impairment
Hydrocephalus
Epileptic encephalopathy
Malignant migrating partial seizures of infancy
Seizure
Neurodevelopmental delay
15
+5 more conditions
Key Variants
RS1003586835
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
Health Risk
RS1023136319
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
Health Risk
RS1028292080
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
Health Risk
RS1057522462
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
Health Risk
RS1057522914
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 14, Developmental and epileptic encephalopathy
Health Risk
RS1060505000
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
Health Risk
RS1064794752
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
Health Risk
RS1156662870
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
Health Risk
RS1161862851
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
Health Risk
RS1182743416
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
Health Risk
RS1190253737
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
Health Risk
RS1193875216
Conflicting classifications of pathogenicity
See cases, Developmental and epileptic encephalopathy, 14
Health Risk
All Variants (216)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS779961735 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS780875110 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS781375160 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS796214553 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS866242631 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS869312682 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS917893164 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS945869943 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS958688368 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS965133345 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS973179248 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS1057518066 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS1057519544 | Health Risk | Likely pathogenic | Malignant migrating partial seizures of infancy, Malignant migrating partial seizures of infancy |
| RS1057522923 | Health Risk | Likely pathogenic | — |
| RS1057522978 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS1057523641 | Health Risk | Likely pathogenic | — |
| RS1064795013 | Health Risk | Likely pathogenic | — |
| RS1272987725 | Health Risk | Likely pathogenic | Seizure, Seizure |
| RS1306973135 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 14, Developmental and epileptic encephalopathy |
| RS143780942 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 14, Developmental and epileptic encephalopathy |
| RS1554771476 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS1554774322 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 14, Developmental and epileptic encephalopathy |
| RS1554774362 | Health Risk | Likely pathogenic | — |
| RS1554778082 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 14, Developmental and epileptic encephalopathy |
| RS1588359968 | Health Risk | Likely pathogenic | — |
| RS1831666357 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS1831789627 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 14, Developmental and epileptic encephalopathy |
| RS1833442352 | Health Risk | Likely pathogenic | Autosomal dominant nocturnal frontal lobe epilepsy 5, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS2131553093 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2490945732 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS2491010908 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 14, Developmental and epileptic encephalopathy |
| RS2491023589 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 14, Developmental and epileptic encephalopathy |
| RS2491037793 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 14, Developmental and epileptic encephalopathy |
| RS2491038117 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 14, Developmental and epileptic encephalopathy |
| RS397515404 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS587777264 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS767434859 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS775807509 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS1060503696 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS1481122214 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS150395210 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS1588385233 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS1831669014 | Health Risk | Pathogenic | — |
| RS1832838063 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS1833833144 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS2491046098 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS2491046518 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS370521183 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 14, Developmental and epileptic encephalopathy |
| RS397515402 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS397515405 | Health Risk | Pathogenic | Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy, 14 |