SLC1A3 gene related symptoms and diseases
All the information presented here about the SLC1A3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC1A3 gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Very Common - Between 80% and 100% cases |
Hemiplegia | Very Common - Between 80% and 100% cases |
Headache | Very Common - Between 80% and 100% cases |
Ataxia | Very Common - Between 80% and 100% cases |
Migraine | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SLC1A3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Slurred speech
- Hemiparesis
- Dysphagia
- Fatigue
- Nystagmus
- Gaze-evoked nystagmus
- Phonophobia
- Diplopia
And 58 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC1A3 gene
Here you will find a list of rare diseases related to the SLC1A3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
EPISODIC ATAXIA TYPE 6
Description
Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.
Most common symptoms of EPISODIC ATAXIA TYPE 6
- Seizures
- Ataxia
- Cerebellar atrophy
- Headache
- Reduced visual acuity
More info about EPISODIC ATAXIA TYPE 6
SOURCES: ORPHANET
EPISODIC ATAXIA, TYPE 6; EA6
Most common symptoms of EPISODIC ATAXIA, TYPE 6; EA6
- Seizures
- Generalized hypotonia
- Ataxia
- Nystagmus
- Motor delay
More info about EPISODIC ATAXIA, TYPE 6; EA6
SOURCES: OMIM
ALTERNATING HEMIPLEGIA OF CHILDHOOD
Alternate names
ALTERNATING HEMIPLEGIA OF CHILDHOOD Is also known as ahc
Description
Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.
Most common symptoms of ALTERNATING HEMIPLEGIA OF CHILDHOOD
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Ataxia
More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD
Search interest in SLC1A3
Potential gene panels for SLC1A3 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 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 type 6 Panel
By Laboratorio di Neurogenetica Istituto di Farmacologia Traslazionale - CNR
This panel specifically test the SLC1A3 gene.
More info about this panelSLC1A3. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SLC1A3 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 panelEpisodic ataxia type 6 (EA6, sequence analysis of SLC1A3 gene) Panel
By CGC Genetics
This panel specifically test the SLC1A3 gene.
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 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 panelEpisodic ataxia type 6 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC1A3 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 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 panelMigraine Panel Panel
By CeGaT GmbH Migraine Panel that also includes the following genes: SCN1A SLC1A3 SLC2A1 CACNA1A KCNK18 PRRT2 NOTCH3 ATP1A2 ATP1A3 POLG
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 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 SLC1A3 Panel
By CeGaT GmbH
This panel specifically test the SLC1A3 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 type 6: SLC1A3 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SLC1A3 gene.
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 panelSpinocerebellar ataxia Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spinocerebellar ataxia that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 SLC1A3 SPTBN2 TBP TTPA VLDLR
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 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 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 panelSLC1A3 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC1A3 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 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 panelMigraine Panel Panel
By Blueprint Genetics Migraine Panel that also includes the following genes: SCN1A SLC1A3 SLC2A1 CACNA1A KCNK18 PRRT2 NOTCH3 ATP1A2 ATP1A3 POLG
More info about this panelEpisodic ataxia type 6 Panel
By Bioarray
This panel specifically test the SLC1A3 gene.
More info about this panelEPISODIC ATAXIA TYPE 6 Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the SLC1A3 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 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 6, Sequencing SLC1A3 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the SLC1A3 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
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