KCNA1 gene related symptoms and diseases
All the information presented here about the KCNA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KCNA1 gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Common - Between 50% and 80% cases |
Dysarthria | Uncommon - Between 30% and 50% cases |
Choreoathetosis | Uncommon - Between 30% and 50% cases |
Headache | Uncommon - Between 30% and 50% cases |
Focal-onset seizure | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with KCNA1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Cerebral palsy
- Ataxia
- Muscle weakness
- Myokymia
- Blurred vision
- Muscle stiffness
- Muscle cramps
- Postural instability
And 72 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KCNA1 gene
Here you will find a list of rare diseases related to the KCNA1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HEREDITARY CONTINUOUS MUSCLE FIBER ACTIVITY
Description
Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.
Most common symptoms of HEREDITARY CONTINUOUS MUSCLE FIBER ACTIVITY
- Seizures
- Ataxia
- Dysarthria
- Elevated serum creatine phosphokinase
- Abnormality of movement
More info about HEREDITARY CONTINUOUS MUSCLE FIBER ACTIVITY
SOURCES: ORPHANET
EPISODIC ATAXIA TYPE 1
Alternate names
EPISODIC ATAXIA TYPE 1 Is also known as episodic ataxia with myokymia
Description
Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.
Most common symptoms of EPISODIC ATAXIA TYPE 1
- Scoliosis
- Delayed speech and language development
- Motor delay
- Dysarthria
- Respiratory distress
More info about EPISODIC ATAXIA TYPE 1
SOURCES: ORPHANET
EPISODIC ATAXIA, TYPE 1; EA1
Alternate names
EPISODIC ATAXIA, TYPE 1; EA1 Is also known as ataxia, episodic, with myokymia, paroxysmal ataxia with neuromyotonia, hereditary, eam, episodic ataxia with myokymia, aemk, aem, myokymia with periodic ataxia
Description
Episodic ataxia is a neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia (Jen et al., 2007).
Most common symptoms of EPISODIC ATAXIA, TYPE 1; EA1
- Seizures
- Ataxia
- Muscle weakness
- Pain
- Flexion contracture
More info about EPISODIC ATAXIA, TYPE 1; EA1
SOURCES: OMIM
PAROXYSMAL KINESIGENIC DYSKINESIA
Alternate names
PAROXYSMAL KINESIGENIC DYSKINESIA Is also known as dystonia 10, pkd, paroxysmal kinesigenic choreathetosis, dystonia, familial paroxysmal, pkc, familial paroxysmal kinesigenic dyskinesia, familial pkd, paroxysmal kinesigenic dyskinesia, dyt10, paroxysmal kinesigenic choreoathetosis
Description
Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.
Most common symptoms of PAROXYSMAL KINESIGENIC DYSKINESIA
- Seizures
- Neoplasm
- Muscle weakness
- Dystonia
- Myoclonus
More info about PAROXYSMAL KINESIGENIC DYSKINESIA
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY
Alternate names
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY Is also known as early infantile epileptic encephalopathy with suppression-bursts, ohtahara syndrome, eiee
Description
Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death.
Most common symptoms of EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY
- Seizures
- Encephalopathy
- Generalized myoclonic seizures
- Focal-onset seizure
- Epileptic encephalopathy
More info about EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY
SOURCES: ORPHANET
ISOLATED AUTOSOMAL DOMINANT HYPOMAGNESEMIA, GLAUDEMANS TYPE
Description
Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.
More info about ISOLATED AUTOSOMAL DOMINANT HYPOMAGNESEMIA, GLAUDEMANS TYPE
SOURCES: ORPHANET
Search interest in KCNA1
Potential gene panels for KCNA1 gene
Episodic Ataxia Evaluation Panel
By Athena Diagnostics Inc Episodic Ataxia Evaluation that also includes the following genes: SLC1A3 CACNA1A CACNB4 KCNA1
More info about this panelAtaxia, Comprehensive Evaluation Panel
By Athena Diagnostics Inc Ataxia, Comprehensive Evaluation that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SLC1A3 SPTBN2 TBP TTPA
More info about this panelAtaxia, Supplemental Dominant Evaluation Panel
By Athena Diagnostics Inc Ataxia, Supplemental Dominant Evaluation that also includes the following genes: SLC1A3 SPTBN2 VAMP1 CACNA1A CACNB4 TGM6 TTBK2 AFG3L2 EEF2 FGF14
More info about this panelAtaxia, Complete Dominant Evaluation Panel
By Athena Diagnostics Inc Ataxia, Complete Dominant Evaluation that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SLC1A3 SPTBN2 TBP VAMP1 CACNA1A
More info about this panelEpilepsy 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 panelEpilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders Panel
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders that also includes the following genes: SYNGAP1 TBX1 TSC1 TSC2 SETBP1 PANK2 ADGRV1 ATP6V0A2 MAGI2 VPS13A
More info about this panelNGS 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 panelAtaxia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panelEpisodic ataxia/myokymia syndrome Panel
By Human Genetics University Hospital Bern
This panel specifically test the KCNA1 gene.
More info about this panelEpisodic Ataxia Type 1 Panel
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the KCNA1 gene.
More info about this panelEpisodic Ataxia type 1 Panel
By Laboratorio di Neurogenetica Istituto di Farmacologia Traslazionale - CNR
This panel specifically test the KCNA1 gene.
More info about this panelKCNA1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the KCNA1 gene.
More info about this panelKCNA1, CACNA1A, CACNB4, SLC1A3. NextGeneDx. Complete sequencing by NGS Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica KCNA1, CACNA1A, CACNB4, SLC1A3. NextGeneDx. Complete sequencing by NGS that also includes the following genes: SLC1A3 CACNA1A CACNB4 KCNA1
More info about this panelCHOP Epilepsy Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC6A8 SPTAN1
More info about this panelEpisodic Ataxia Type 1 (sequence analysis of KCNA1 gene) Panel
By CGC Genetics
This panel specifically test the KCNA1 gene.
More info about this panelNon-dystrophic myotonias (NGS panel for 11 genes) Panel
By CGC Genetics Non-dystrophic myotonias (NGS panel for 11 genes) that also includes the following genes: SCN4A CACNA1A CACNA1S CAV3 CLCN1 KCNJ18 HINT1 HSPG2 KCNA1 KCNE3
More info about this panelHereditary ataxias (NGS panel for 44 genes) Panel
By CGC Genetics Hereditary ataxias (NGS panel for 44 genes) that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA VAMP1 VLDLR CACNA1A CACNB4 ELOVL4 ABHD12
More info about this panelEpisodic ataxia type 1 (deletion/duplication analysis on KCNA1 gene) Panel
By CGC Genetics
This panel specifically test the KCNA1 gene.
More info about this panelEpisodic ataxia (NGS panel of 4 genes) Panel
By CGC Genetics
This panel specifically test the KCNA1 gene.
More info about this panelEpisodic ataxia type 1 and 2 (deletions/duplications analysis of KCNA1 and CACNA1A genes) Panel
By CGC Genetics Episodic ataxia type 1 and 2 (deletions/duplications analysis of KCNA1 and CACNA1A genes) that also includes the following genes: CACNA1A KCNA1
More info about this panelHypomagnesemia (NGS panel for 17 genes) Panel
By CGC Genetics Hypomagnesemia (NGS panel for 17 genes) that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR BSND SARS2 TRPM6 CLCNKB CLDN16 CLDN19
More info about this panelEpisodic ataxia (NGS panel of 4 genes) Panel
By CGC Genetics
This panel specifically test the KCNA1 gene.
More info about this panelEpisodic ataxia type 1 and 2 (deletions/duplications analysis of KCNA1 and CACNA1A genes) Panel
By CGC Genetics Episodic ataxia type 1 and 2 (deletions/duplications analysis of KCNA1 and CACNA1A genes) that also includes the following genes: CACNA1A KCNA1
More info about this panelHypomagnesemia (NGS panel for 17 genes) Panel
By CGC Genetics Hypomagnesemia (NGS panel for 17 genes) that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR BSND SARS2 TRPM6 CLCNKB CLDN16 CLDN19
More info about this panelHypomagnesemia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hypomagnesemia Sequencing Panel with CNV Detection that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR BSND SARS2 TRPM6 CLDN16 CLDN19 FAM111A
More info about this panelEpisodic Ataxia Type 1 or Hypomagnesemia via KCNA1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the KCNA1 gene.
More info about this panelEpilepsy 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 panelHereditary kidney disorders - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panelKCNA1 Panel
By MGZ Medical Genetics Center
This panel specifically test the KCNA1 gene.
More info about this panelNeurogenetic 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 panelAtaxia Panel
By MGZ Medical Genetics Center Ataxia that also includes the following genes: SACS SLC1A3 SLC25A15 SLC2A1 SLC2A10 CACNA1A CACNA1C CACNB4 APTX SLC52A3
More info about this panelEpisodic Ataxia and Phenocopies Panel
By MGZ Medical Genetics Center Episodic Ataxia and Phenocopies that also includes the following genes: SLC1A3 SLC22A5 SLC25A15 SLC2A1 CACNA1A CACNA1C CACNB4 ABHD5 CPT2 DARS2
More info about this panelAtaxia (AD/AR) panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht Ataxia (AD/AR) panel that also includes the following genes: ATXN1 ATXN2 ATXN7 TBP CACNA1A APTX AFG3L2 FGF14 FXN SETX
More info about this panelEpisodic ataxia type 1 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the KCNA1 gene.
More info about this panelAllNeuro 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 panelNon-dystrophic myotonia congenita panel Panel
By Centogene AG - the Rare Disease Company Non-dystrophic myotonia congenita panel that also includes the following genes: SCN4A CACNA1A CACNA1S CAV3 CLCN1 HINT1 HSPG2 KCNA1 KCNE3 ATP2A1
More info about this panelIdiopathic 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 panelEpisodic Ataxia Panel Panel
By CeGaT GmbH Episodic Ataxia Panel that also includes the following genes: SLC1A3 SLC2A1 CACNA1A CACNB4 FGF14 KCNA1 KCNQ2
More info about this panelChoreatic Movement Disorders Panel Panel
By CeGaT GmbH Choreatic Movement Disorders Panel that also includes the following genes: ATXN1 ATXN2 ATXN7 TBP NKX2-1 FRRS1L JPH3 RNF216 ADCY5 C9orf72
More info about this panelAtaxia and differential diagnoses Panel Panel
By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1
More info about this panelSingle gene testing KCNA1 Panel
By CeGaT GmbH
This panel specifically test the KCNA1 gene.
More info about this panelAtaxia, autosomal dominant and X-linked Panel Panel
By CeGaT GmbH Ataxia, autosomal dominant and X-linked Panel that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 SLC1A3 SPG7 SPTBN2 TBP VAMP1 VLDLR
More info about this panelEpisodic Ataxia 1, KCNA1 Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the KCNA1 gene.
More info about this panelEpilepsy 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 panelEpisodic Ataxia 1 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the KCNA1 gene.
More info about this panelEpisodic Ataxia 1 Panel
By MedGene
This panel specifically test the KCNA1 gene.
More info about this panelEpisodic ataxia type 1: KCNA1 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the KCNA1 gene.
More info about this panelEPILEPSY HEREDITARY PANEL Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases EPILEPSY HEREDITARY PANEL that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 CDKL5 STXBP1 CACNA1A CACNA1H
More info about this panelEpisodic ataxia Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Episodic ataxia that also includes the following genes: SLC1A3 CACNA1A CACNB4 KCNA1
More info about this panelAtaxia Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Ataxia that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA CACNA1A CACNB4 APTX TGM6 COQ8A SYNE1
More info about this panelNon-dystrophic myotonias Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Non-dystrophic myotonias that also includes the following genes: SCN4A CACNA1A CACNA1S CAV3 CLCN1 KCNJ18 HINT1 HSPG2 KCNA1 KCNE3
More info about this panelEpilepsy 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 panelHereditary Neuropathies: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panelEpilepsy 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 panelHereditary Neuropathies: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panelEpilepsy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panelNuclear-Mito NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panelKCNA1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KCNA1 gene.
More info about this panelComprehensive 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 panelHypomagnesemia Panel Panel
By Blueprint Genetics Hypomagnesemia Panel that also includes the following genes: CNNM2 CNNM4 SLC12A3 HNF1B CASR BSND NIPA2 SARS2 TRPM6 CLCNKB
More info about this panelAtaxia Panel Panel
By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2
More info about this panelComprehensive Metabolism Panel Panel
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panelComprehensive 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 panelIdiopathic 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 panelEpisodic ataxia type 1 & 2 Panel
By Bioarray
This panel specifically test the KCNA1 gene.
More info about this panelEpisodic ataxia type 1 Panel
By Bioarray
This panel specifically test the KCNA1 gene.
More info about this panelMYOTONIA CONGENITA NGS PANEL Panel
By Laboratorio de Genetica Clinica SL MYOTONIA CONGENITA NGS PANEL that also includes the following genes: SCN4A CACNA1S CAV3 CLCN1 HINT1 HSPG2 KCNA1 KCNE3 ATP2A1
More info about this panelEPISODIC ATAXIA TYPE 1 Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the KCNA1 gene.
More info about this panelHYPOMAGNESEMIA, ISOLATED, GLAUDEMANS TYPE (AUTOSOMAL DOMINANT) Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the KCNA1 gene.
More info about this panelEPISODIC ATAXIA NGS PANEL Panel
By Laboratorio de Genetica Clinica SL EPISODIC ATAXIA NGS PANEL that also includes the following genes: SLC1A3 CACNA1A CACNB4 KCNA1
More info about this panelHYPOMAGNESEMIA NGS PANEL Panel
By Laboratorio de Genetica Clinica SL HYPOMAGNESEMIA NGS PANEL that also includes the following genes: CNNM2 SLC12A3 HNF1B TRPM6 CLDN16 CLDN19 EGF FXYD2 KCNA1
More info about this panelEpisodic ataxia panel Panel
By LifeLabs Genetics Episodic ataxia panel that also includes the following genes: SLC1A3 CACNB4 KCNA1
More info about this panelEpisodic Ataxia Type 1, Sequencing KCNA1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the KCNA1 gene.
More info about this panelEpisodic Ataxia , Panel Massive Sequencing (NGS) 4 Genes Panel
By Reference Laboratory Genetics Episodic Ataxia , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: SLC1A3 CACNA1A CACNB4 KCNA1
More info about this panelFamilial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes Panel
By Reference Laboratory Genetics Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 CDKL5 STXBP1 CACNA1A CACNA1H
More info about this panelNon-Dystrophic Myotonias , Panel Massive Sequencing (NGS) 9 Genes Panel
By Reference Laboratory Genetics Non-Dystrophic Myotonias , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: SCN4A CACNA1A CACNA1S CAV3 CLCN1 HSPG2 KCNA1 KCNE3 ATP2A1
More info about this panelFamilial Hypomagnesemia , Panel Massive Sequencing (NGS) 14 Genes Panel
By Reference Laboratory Genetics Familial Hypomagnesemia , Panel Massive Sequencing (NGS) 14 Genes that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR SARS2 TRPM6 CLCNKB CLDN16 CLDN19 EGF
More info about this panelEpisodic Ataxia Type 1: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the KCNA1 gene.
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