KCNT1 gene related symptoms and diseases
All the information presented here about the KCNT1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KCNT1 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Seizures | Very Common - Between 80% and 100% cases |
Focal-onset seizure | Very Common - Between 80% and 100% cases |
Status epilepticus | Common - Between 50% and 80% cases |
Behavioral abnormality | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with KCNT1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Developmental regression
Not very common - Between 30% and 50% cases
- Tetraplegia
- Generalized myoclonic seizures
- Gliosis
- Delayed myelination
- Epileptic encephalopathy
- Neuronal loss in central nervous system
- Cyanosis
And 34 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KCNT1 gene
Here you will find a list of rare diseases related to the KCNT1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY
Alternate names
AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY Is also known as adnfle
Description
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.
Most common symptoms of AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY
- Intellectual disability
- Seizures
- Behavioral abnormality
- Dystonia
- Focal-onset seizure
More info about AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5
Description
Nocturnal frontal lobe epilepsy-5 is an autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of ENFL (summary by Heron et al., 2012).For a general description and a discussion of genetic heterogeneity of ENFL, see ENFL1 (OMIM ).
Most common symptoms of EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5
- Intellectual disability
- Seizures
- Cognitive impairment
- Behavioral abnormality
- Depressivity
More info about EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5
SOURCES: OMIM
MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY
Alternate names
MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY Is also known as mmpei, malignant migrating partial epilepsy of infancy, mmpsi, migrating partial epilepsy of infancy, mpsi, mpei, migrating partial seizures of infancy
Description
Early infantile epileptic encephalopathy-14 is a severe neurologic disorder characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. The disorder presents as 'malignant migrating partial seizures of infancy' (MMPSI), a clinical designation (summary by Barcia et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).
Most common symptoms of MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY
Search interest in KCNT1
Potential gene panels for KCNT1 gene
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC6A1
More info about this panel
Epilepsy Advanced Sequencing and CNV Evaluation Panel

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5
More info about this panel
Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Panel

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC9A6 SIK1
More info about this panel
NGS Epilepsy/Seizure Panel Panel

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel
Early Infantile Epileptic Encephalopathy Panel Panel

By Genetic Services Laboratory University of Chicago Early Infantile Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN2A SCN8A ST3GAL3 ST3GAL5 SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1
More info about this panel
Epilepsy Panel - Comprehensive Panel

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Epilepsy Panel - Comprehensive that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 SPTAN1 CDKL5
More info about this panel
CustomNext: Neuro Panel

By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel
Neurodevelopment-Expanded Panel

By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
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EpiFirst-Focal Panel

By Ambry Genetics EpiFirst-Focal that also includes the following genes: SCN1A SCN1B DEPDC5 KCNT1 CHRNA2 CHRNA4 CHRNB2 CRH PRRT2 GRIN2A
More info about this panel
EpiFirst-Infantile Spasms Panel

By Ambry Genetics EpiFirst-Infantile Spasms that also includes the following genes: SCN2A SCN8A SIK1 SPTAN1 CDKL5 STXBP1 TSC1 TSC2 ARX KCNT1
More info about this panel
EpilepsyNext Panel

By Ambry Genetics EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A
More info about this panel
EpiRapid Panel

By Ambry Genetics EpiRapid that also includes the following genes: SCN1A SCN8A SLC2A1 STXBP1 TSC1 TSC2 PCDH19 KCNT1 PNPO PRRT2
More info about this panel
EpiRapid reflex EpilepsyNext Panel

By Ambry Genetics EpiRapid reflex EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A
More info about this panel
Epilepsy, nocturnal frontal lobe 5 (sequence analysis of KCNT1 gene) Panel

By CGC Genetics
This panel specifically test the KCNT1 gene.
More info about this panel
Nocturnal frontal lobe epilepsy (NGS panel for 4 genes) Panel

By CGC Genetics Nocturnal frontal lobe epilepsy (NGS panel for 4 genes) that also includes the following genes: KCNT1 CHRNA2 CHRNA4 CHRNB2
More info about this panel
Early infantile epileptic encephalopathy (NGS panel for 26 genes) Panel

By CGC Genetics Early infantile epileptic encephalopathy (NGS panel for 26 genes) that also includes the following genes: SCN1A SCN2A SCN8A ST3GAL3 SPTAN1 CDKL5 STXBP1 WWOX PCDH19 ARHGEF9
More info about this panel
Epileptic encephalopathy (NGS panel for 67 genes) Panel

By CGC Genetics Epileptic encephalopathy (NGS panel for 67 genes) that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 SLC2A1 SLC9A6 SPTAN1 CDKL5
More info about this panel
Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6
More info about this panel
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5
More info about this panel
Malignant Migrating Partial Seizures of Infancy and Autosomal Dominant Nocturnal Frontal Lobe Epilepsy via KCNT1 Gene Sequencing with CNV Detection Panel

By PreventionGenetics PreventionGenetics
This panel specifically test the KCNT1 gene.
More info about this panel
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
More info about this panel
Mental retardation - different panels Panel

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
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Familial Focal Epilepsy Panel

By MGZ Medical Genetics Center Familial Focal Epilepsy that also includes the following genes: DEPDC5 KCNT1 CHRNA2 CHRNA4 CHRNB2 LGI1
More info about this panel
KCNT1 Panel

By MGZ Medical Genetics Center
This panel specifically test the KCNT1 gene.
More info about this panel
Malignant Migrating Epilepsy of Infancy Panel

By MGZ Medical Genetics Center Malignant Migrating Epilepsy of Infancy that also includes the following genes: PLCB1 KCNT1 TBC1D24
More info about this panel
Neurogenetic Disorders - panels Panel

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel
Epileptic Encephalopathy Panel

By MGZ Medical Genetics Center Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SGCE SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1
More info about this panel
Malignant Migrating Partial Seizures of Infancy Panel

By MGZ Medical Genetics Center Malignant Migrating Partial Seizures of Infancy that also includes the following genes: PLCB1 KCNT1 TBC1D24
More info about this panel
Epileptic Encephalopathy – Basic Diagnostics Panel

By MGZ Medical Genetics Center Epileptic Encephalopathy – Basic Diagnostics that also includes the following genes: SCN1A SCN2A SLC2A1 CDKL5 STXBP1 SYNGAP1 PCDH19 ARX KCNT1 PNPO
More info about this panel
Epilepsy and Mitochondrial Encephalopathy Panel

By MGZ Medical Genetics Center Epilepsy and Mitochondrial Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel
Brain Malformations / Neuronal Migration Disorders Panel

By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panel
Epilepsy Panel

By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel
Epileptic encephalopathy panel Panel

By Genome Diagnostics Laboratory University Medical Center Utrecht Epileptic encephalopathy panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1
More info about this panel
Focal epilepsy panel Panel

By Genome Diagnostics Laboratory University Medical Center Utrecht Focal epilepsy panel that also includes the following genes: SYN1 ELP4 KCNT1 CHRNA2 CHRNA4 CHRNB2 SRPX2 GRIN2A LGI1
More info about this panel
Epilepsy, nocturnal frontal lobe Panel

By Centogene AG - the Rare Disease Company
This panel specifically test the KCNT1 gene.
More info about this panel
AllNeuro panel Panel

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel
Early infantile epileptic encephalopathy type 14 Panel

By Centogene AG - the Rare Disease Company
This panel specifically test the KCNT1 gene.
More info about this panel
Early infantile epileptic encephalopathy type 14 Panel

By Centogene AG - the Rare Disease Company
This panel specifically test the KCNT1 gene.
More info about this panel
KCNT1 Panel

By Amplexa Genetics Amplexa Genetics A/S
This panel specifically test the KCNT1 gene.
More info about this panel
Epileptic Encephalopathy Panel Panel

By CeGaT GmbH Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6 SPTAN1
More info about this panel
Idiopathic Generalized and Focal Epilepsy Panel Panel

By CeGaT GmbH Idiopathic Generalized and Focal Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC1A3 SLC2A1 CACNA1A CACNA1H CACNB4
More info about this panel
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10
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Single gene testing KCNT1 Panel

By CeGaT GmbH
This panel specifically test the KCNT1 gene.
More info about this panel
Epilepsy Panel

By Asper Biogene Asper Biogene LLC Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC35A2 SLC35A3 SLC6A1 SLC6A8
More info about this panel
Invitae Epilepsy Panel Panel

By Invitae Invitae Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SGCE SLC2A1 SLC35A2 SLC6A1
More info about this panel
Invitae Early Infantile Epileptic Encephalopathy Panel Panel

By Invitae Invitae Early Infantile Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN2A SCN8A SCN9A SLC2A1 SLC35A2 SLC6A1 SMC1A SPTAN1 CDKL5
More info about this panel
Epilepsy and Seizure Disorders: Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel
Neurology: Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3
More info about this panel
Epilepsy and Seizure Disorders: Deletion/Duplication Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Deletion/Duplication Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel
Essential Epilepsy NGS Panel Panel

By Fulgent Genetics Fulgent Genetics Essential Epilepsy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6
More info about this panel
Idiopathic Generalized Epilepsy NGS Panel Panel

By Fulgent Genetics Fulgent Genetics Idiopathic Generalized Epilepsy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC9A6 SMC1A KDM5C CDKL5
More info about this panel
Early-Onset Epileptic Encephalopathy NGS Panel Panel

By Fulgent Genetics Fulgent Genetics Early-Onset Epileptic Encephalopathy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC25A12
More info about this panel
Comprehensive Epilepsy NGS Panel Panel

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panel
KCNT1 Panel

By Fulgent Genetics Fulgent Genetics
This panel specifically test the KCNT1 gene.
More info about this panel
Epileptic Encephalopathy Panel Panel

By Blueprint Genetics Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 ST3GAL3 ST3GAL5 SLC25A1 SLC2A1 SLC35A2
More info about this panel
Comprehensive Epilepsy Panel Panel

By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
More info about this panel
Idiopathic Generalized and Focal Epilepsy Panel Panel

By Blueprint Genetics Idiopathic Generalized and Focal Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A1 CACNA1H CACNB4 CASR
More info about this panel
EPILEPSY, NOCTURNAL FRONTAL LOBE (AUTOSOMAL DOMINANT) Panel

By Laboratorio de Genetica Clinica SL EPILEPSY, NOCTURNAL FRONTAL LOBE (AUTOSOMAL DOMINANT) that also includes the following genes: DEPDC5 KCNT1 CHRNA2 CHRNA4 CHRNB2 CRH
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EPILEPSY, NOCTURNAL FRONTAL LOBE NGS PANEL Panel

By Laboratorio de Genetica Clinica SL EPILEPSY, NOCTURNAL FRONTAL LOBE NGS PANEL that also includes the following genes: DEPDC5 KCNT1 CHRNA2 CHRNA4 CHRNB2 CRH
More info about this panel
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