CACNB4 gene related symptoms and diseases
All the information presented here about the CACNB4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CACNB4 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Common - Between 50% and 80% cases |
| Myoclonus | Common - Between 50% and 80% cases |
| Ataxia | Uncommon - Between 30% and 50% cases |
| Vertigo | Uncommon - Between 30% and 50% cases |
| Postural instability | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CACNB4 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Truncal ataxia
- Gaze-evoked nystagmus
- Generalized tonic-clonic seizures
- Dysarthria
- Absence seizures
- EEG with polyspike wave complexes
- Morning myoclonic jerks
Rarely - Less than 30% cases
- Intellectual disability
And 35 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CACNB4 gene
Here you will find a list of rare diseases related to the CACNB4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
EPISODIC ATAXIA TYPE 5
Description
Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours.
Most common symptoms of EPISODIC ATAXIA TYPE 5
- Ataxia
- Dysarthria
- Vertigo
- Postural instability
- Truncal ataxia
More info about EPISODIC ATAXIA TYPE 5
SOURCES: ORPHANET
DENTATORUBRAL PALLIDOLUYSIAN ATROPHY
Alternate names
DENTATORUBRAL PALLIDOLUYSIAN ATROPHY Is also known as dentatorubropallidoluysian atrophy, drpla, naito-oyanagi disease
Description
Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.
Most common symptoms of DENTATORUBRAL PALLIDOLUYSIAN ATROPHY
- Seizures
- Ataxia
- Nystagmus
- Cognitive impairment
- Dysarthria
More info about DENTATORUBRAL PALLIDOLUYSIAN ATROPHY
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EIG9
Description
For a general phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see {600669}. Juvenile myoclonic epilepsy is a subtype of idiopathic generalized epilepsy; see {254770} for a general phenotypic description and a discussion of genetic heterogeneity of JME.
Most common symptoms of EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EIG9
- Seizures
- Myoclonus
- Generalized tonic-clonic seizures
- Absence seizures
- Loss of consciousness
More info about EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EIG9
SOURCES: OMIM
JUVENILE MYOCLONIC EPILEPSY
Alternate names
JUVENILE MYOCLONIC EPILEPSY Is also known as janz syndrome, juvenile myoclonus epilepsy, jme, myoclonic epilepsy, juvenile, petit mal, impulsive
Description
Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).
Most common symptoms of JUVENILE MYOCLONIC EPILEPSY
- Intellectual disability
- Seizures
- Depressivity
- Myoclonus
- Aggressive behavior
More info about JUVENILE MYOCLONIC EPILEPSY
Search interest in CACNB4
Potential gene panels for CACNB4 gene
Episodic Ataxia Evaluation Panel
United States.
By Athena Diagnostics Inc Episodic Ataxia Evaluation that also includes the following genes: SLC1A3 CACNA1A CACNB4 KCNA1
More info about this panel United States.
Ataxia, Comprehensive Evaluation Panel
United States.
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 panel United States.
Ataxia, Supplemental Dominant Evaluation Panel
United States.
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 panel United States.
Ataxia, Complete Dominant Evaluation Panel
United States.
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 panel United States.
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel
United States.
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 United States.
Epilepsy Advanced Sequencing and CNV Evaluation Panel
United States.
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 United States.
NGS Epilepsy/Seizure Panel Panel
United States.
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 United States.
Childhood Epilepsy Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Childhood Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SLC2A1 SLC9A6 CDKL5 SYN1 UBE3A CNTNAP2 CACNB4
More info about this panel United States.
Epilepsy/Seizure Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Epilepsy/Seizure that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1
More info about this panel United States.
Ataxia Exome Panel Panel
United States.
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 panel United States.
Comprehensive Epilepsy Panel Panel
United States.
By GeneDx Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC9A6 SPTAN1 CDKL5 STXBP1 SYN1
More info about this panel United States.
Childhood-Onset Epilepsy Panel Panel
United States.
By GeneDx Childhood-Onset Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SLC2A1 SLC9A6 CDKL5 SYN1 TCF4 UBE3A CNTNAP2
More info about this panel United States.
Episodic Ataxia type 5 Panel
Italy.
By Laboratorio di Neurogenetica Istituto di Farmacologia Traslazionale - CNR
This panel specifically test the CACNB4 gene.
More info about this panel Italy.
CACNB4. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CACNB4 gene.
More info about this panel Spain.
KCNA1, CACNA1A, CACNB4, SLC1A3. NextGeneDx. Complete sequencing by NGS Panel
Spain.
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 panel Spain.
Episodic ataxia type 5 (sequence analysis of CACNB4 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CACNB4 gene.
More info about this panel Portugal.
Hereditary ataxias (NGS panel for 44 genes) Panel
Portugal.
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 panel Portugal.
Myoclonic epilepsy, juvenile (sequence analysis of CACNB4 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CACNB4 gene.
More info about this panel Portugal.
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel
United States.
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 United States.
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
United States.
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 United States.
Neurogenetic Disorders - panels Panel
Germany.
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 Germany.
Progressive Myoclonic Epilepsy Panel
Germany.
By MGZ Medical Genetics Center Progressive Myoclonic Epilepsy that also includes the following genes: SGCE CACNB4 NPC2 CASR EFHC1 SCARB2 PRICKLE1 PRICKLE2 TPP1 CLN3
More info about this panel Germany.
Ataxia Panel
Germany.
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 panel Germany.
Brain Malformations / Neuronal Migration Disorders Panel
Germany.
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 Germany.
Episodic Ataxia and Phenocopies Panel
Germany.
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 panel Germany.
Epilepsy Panel
Germany.
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 Germany.
IGE/JME/CAE panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht IGE/JME/CAE panel that also includes the following genes: SLC2A1 BRD2 CACNA1H CACNB4 CASR EFHC1 CLCN2 GABRA1 GABRB3 GABRD
More info about this panel Netherlands.
Episodic ataxia type 5 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CACNB4 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
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 Germany.
Idiopathic Generalized and Focal Epilepsy Panel Panel
Germany.
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 Germany.
Episodic Ataxia Panel Panel
Germany.
By CeGaT GmbH Episodic Ataxia Panel that also includes the following genes: SLC1A3 SLC2A1 CACNA1A CACNB4 FGF14 KCNA1 KCNQ2
More info about this panel Germany.
Ataxia and differential diagnoses Panel Panel
Germany.
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 panel Germany.
Single gene testing CACNB4 Panel
Germany.
By CeGaT GmbH
This panel specifically test the CACNB4 gene.
More info about this panel Germany.
Ataxia, autosomal dominant and X-linked Panel Panel
Germany.
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 panel Germany.
Epilepsy, juvenile myoclonic 6 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the CACNB4 gene.
More info about this panel Austria.
Episodic Ataxia 5 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the CACNB4 gene.
More info about this panel Austria.
Epilepsy, juvenile myoclonic 6 Panel
Slovakia.
By MedGene
This panel specifically test the CACNB4 gene.
More info about this panel Slovakia.
Episodic Ataxia 5 Panel
Slovakia.
By MedGene
This panel specifically test the CACNB4 gene.
More info about this panel Slovakia.
DRAVET, SYNDROME & MIOCLONIC EPILEPSY Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DRAVET, SYNDROME & MIOCLONIC EPILEPSY that also includes the following genes: SCN1A SCN1B SCN2A SCN9A CACNB4 PCDH19 EFHC1 CHRNA7 NHLRC1 EPM2A
More info about this panel Spain.
EPILEPSY HEREDITARY PANEL Panel
Spain.
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 panel Spain.
Episodic ataxia Panel
Spain.
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 panel Spain.
Ataxia Panel
Spain.
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 panel Spain.
Epilepsy and Seizure Disorders: Sequencing Panel Panel
United States.
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 United States.
Hereditary Neuropathies: Sequencing Panel Panel
United States.
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 panel United States.
Neurology: Sequencing Panel Panel
United States.
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 United States.
Epilepsy and Seizure Disorders: Deletion/Duplication Panel Panel
United States.
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 United States.
Hereditary Neuropathies: Deletion/Duplication Panel Panel
United States.
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 panel United States.
Epilepsy NGS Panel Panel
United States.
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 panel United States.
CACNB4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CACNB4 gene.
More info about this panel United States.
Idiopathic Generalized Epilepsy NGS Panel Panel
United States.
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 United States.
Early-Onset Epileptic Encephalopathy NGS Panel Panel
United States.
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 United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
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 United States.
Ataxia Panel Panel
Finland.
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 panel Finland.
Comprehensive Epilepsy Panel Panel
Finland.
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 Finland.
Idiopathic Generalized and Focal Epilepsy Panel Panel
Finland.
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 Finland.
Episodic ataxia type 5 Panel
Spain.
By Bioarray
This panel specifically test the CACNB4 gene.
More info about this panel Spain.
EPISODIC ATAXIA TYPE 5 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the CACNB4 gene.
More info about this panel Spain.
JUVENILE MYOCLONIC EPILEPSY Panel
Spain.
By Laboratorio de Genetica Clinica SL JUVENILE MYOCLONIC EPILEPSY that also includes the following genes: CACNB4 EFHC1 CLCN2 GABRA1 JRK KCNQ3
More info about this panel Spain.
EPISODIC ATAXIA NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL EPISODIC ATAXIA NGS PANEL that also includes the following genes: SLC1A3 CACNA1A CACNB4 KCNA1
More info about this panel Spain.
PROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL PROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL that also includes the following genes: SCN1A SCN1B SCN2A SCN9A SGCE SLC6A1 STXBP1 CACNB4 CERS1 PCDH19
More info about this panel Spain.
Episodic ataxia panel Panel
Canada.
By LifeLabs Genetics Episodic ataxia panel that also includes the following genes: SLC1A3 CACNB4 KCNA1
More info about this panel Canada.
Episodic Ataxia Type 5, Sequencing CACNB4 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CACNB4 gene.
More info about this panel Spain.
Episodic Ataxia , Panel Massive Sequencing (NGS) 4 Genes Panel
Spain.
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 panel Spain.
Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes Panel
Spain.
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 panel Spain.
Severe Myoclonic Epilepsy (Dravet's Syndrome), Panel Massive Sequencing (NGS) 11 Genes Panel
Spain.
By Reference Laboratory Genetics Severe Myoclonic Epilepsy (Dravet's Syndrome), Panel Massive Sequencing (NGS) 11 Genes that also includes the following genes: SCN1A SCN1B SCN2A SCN9A CACNB4 PCDH19 EFHC1 NHLRC1 EPM2A GABRA1
More info about this panel Spain.
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