Episodic Ataxia, Type 5; Ea5

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.

Clinical Features

Phenotypes and symptoms related to Episodic Ataxia, Type 5; Ea5

  • Ataxia
  • Nystagmus
  • Dysarthria
  • Postural instability
  • Vertigo
  • Truncal ataxia
  • Gaze-evoked nystagmus
  • Episodic ataxia

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Episodic Ataxia, Type 5; Ea5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Episodic Ataxia Evaluation.

By Athena Diagnostics Inc in United States.

CACNA1A, KCNA1, CACNB4, SLC1A3
Specificity
25 %
Genes
100 %
Ataxia, Comprehensive Evaluation.

By Athena Diagnostics Inc in United States.

PRKCG, POLG, AFG3L2, MTPAP, COQ8A, FLVCR1, FXN, APTX, ATXN1, ATM, MRE11, SACS, TTPA, PPP2R2B, ATXN2, ATXN3, ATXN10, ATXN7, CACNA1A, TBP , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Ataxia, Supplemental Dominant Evaluation.

By Athena Diagnostics Inc in United States.

PRKCG, AFG3L2, CACNA1A, KCNA1, CACNB4, SLC1A3, VAMP1, EEF2, KCND3, KCNC3, ITPR1, PDYN, FGF14, TGM6, TTBK2, SPTBN2
Specificity
7 %
Genes
100 %
Ataxia, Complete Dominant Evaluation.

By Athena Diagnostics Inc in United States.

PRKCG, AFG3L2, ATXN1, PPP2R2B, ATXN2, ATXN3, ATXN10, ATXN7, CACNA1A, TBP, ATXN8OS, ATN1, KCNA1, CACNB4, SLC1A3, VAMP1, EEF2, KCND3, KCNC3, ITPR1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies.

By Athena Diagnostics Inc in United States.

ALPL, ADSL, SLC25A19, LIAS, ABAT, GAMT, GATM, SUCLA2, ALG9, GLDC, AMT, ALDH7A1, NDUFA1, L2HGDH, CYP27A1, SLC6A8, CHRNA7, PCDH19, SLC2A1, PHGDH , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2 , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

MTHFR, UBE3A, ADSL, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3, ARX , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
100 %
Childhood Epilepsy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

UBE3A, ADSL, POLG, MECP2, GAMT, GATM, CTSD, SLC9A6, TPP1, CLN3, CDKL5, FOXG1, MEF2C, SLC2A1, CLN6, CLN8, PPT1, CLN5, CSTB, SCN1A , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Epilepsy/Seizure.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MTHFR, UBE3A, BTD, ADSL, MMACHC, ADGRV1, POLG, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
Comprehensive Epilepsy Panel.

By GeneDx in United States.

UBE3A, ADSL, POLG, MECP2, LIAS, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Childhood-Onset Epilepsy Panel.

By GeneDx in United States.

UBE3A, ADSL, POLG, MECP2, GAMT, GATM, CTSD, SLC9A6, TPP1, CLN3, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, SLC2A1, CLN6, CLN8, PPT1, CLN5 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Episodic Ataxia type 5.

By Laboratorio di Neurogenetica Istituto di Farmacologia Traslazionale - CNR in Italy.

CACNB4
Specificity
100 %
Genes
100 %
CACNB4. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CACNB4
Specificity
100 %
Genes
100 %
KCNA1, CACNA1A, CACNB4, SLC1A3. NextGeneDx. Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CACNA1A, KCNA1, CACNB4, SLC1A3
Specificity
25 %
Genes
100 %
Episodic ataxia type 5 (sequence analysis of CACNB4 gene).

By CGC Genetics in Portugal.

CACNB4
Specificity
100 %
Genes
100 %
Hereditary ataxias (NGS panel for 44 genes).

By CGC Genetics in Portugal.

ABHD12, PRKCG, ELOVL4, POLG, AFG3L2, MTPAP, COQ8A, ABCB7, FXN, APTX, ATM, MRE11, MTTP, SACS, TTPA, CACNA1A, SETX, SYNE1, KCNA1, CACNB4 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Myoclonic epilepsy, juvenile (sequence analysis of CACNB4 gene).

By CGC Genetics in Portugal.

CACNB4
Specificity
100 %
Genes
100 %
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, ADSL, TUBB3, POLG, MECP2, GAMT, STXBP1, TUBA1A, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, ARX, CDKL5, FOXG1, MEF2C , (...)

View the complete list with 133 more genes
Specificity
1 %
Genes
100 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, PTEN, ADSL, POLG, MECP2, LIAS, DHDDS, ABAT, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Progressive Myoclonic Epilepsy.

By MGZ Medical Genetics Center in Germany.

POLG, GLDC, HEXA, HEXB, TPP1, CLN3, NPC1, NPC2, CLN6, PPT1, CLN5, CSTB, SGCE, CASR, CACNB4, EFHC1, GOSR2, NHLRC1, KCTD7, PRICKLE1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Ataxia.

By MGZ Medical Genetics Center in Germany.

ARG1, BCKDHA, BCKDHB, C12orf65, CPS1, POLG, TTC19, COQ8A, DARS2, OTC, PDHA1, ABCB7, DBT, IVD, SLC25A15, ASS1, APTX, ASL, TACO1, SLC2A1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
100 %
Episodic Ataxia and Phenocopies.

By MGZ Medical Genetics Center in Germany.

ACADVL, ARG1, BCKDHA, BCKDHB, CPS1, CPT2, DARS2, PNPLA2, OTC, PDHA1, ABHD5, DBT, IVD, SLC25A15, ETFB, ETFA, ETFDH, ASS1, SLC22A5, ASL , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Epilepsy.

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, AMACR, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2 , (...)

View the complete list with 192 more genes
Specificity
1 %
Genes
100 %
IGE/JME/CAE panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

ME2, SLC2A1, CASR, CACNB4, CACNA1H, EFHC1, GABRB3, GABRD, GABRA1, CLCN2, BRD2
Specificity
10 %
Genes
100 %
Episodic ataxia type 5.

By Centogene AG - the Rare Disease Company in Germany.

CACNB4
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Idiopathic Generalized and Focal Epilepsy Panel.

By CeGaT GmbH in Germany.

AMACR, ME2, ALDH7A1, SLC2A1, SCN1A, CACNA1A, CASR, KCNA1, CACNB4, SLC1A3, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, SCN9A, SCN1B, SCN2A, STX1B , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Episodic Ataxia Panel.

By CeGaT GmbH in Germany.

SLC2A1, CACNA1A, KCNA1, CACNB4, SLC1A3, FGF14, KCNQ2
Specificity
15 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

FMR1, AARS2, ABHD12, UQCRQ, BTD, ATP7B, AUH, TWNK, PRKCG, PAX6, INPP5E, AMACR, OPA1, WFS1, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
100 %
Single gene testing CACNB4.

By CeGaT GmbH in Germany.

CACNB4
Specificity
100 %
Genes
100 %
Ataxia, autosomal dominant and X-linked Panel.

By CeGaT GmbH in Germany.

PRKCG, ELOVL4, AFG3L2, SPG7, ATXN1, PPP2R2B, ATXN2, ATXN3, ATXN10, ATXN7, CACNA1A, TBP, ATN1, KCNA1, CACNB4, SLC1A3, VAMP1, EEF2, KCND3, KCNC3 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Epilepsy, juvenile myoclonic 6.

By Praxis fuer Humangenetik Wien in Austria.

CACNB4
Specificity
100 %
Genes
100 %
Episodic Ataxia 5.

By Praxis fuer Humangenetik Wien in Austria.

CACNB4
Specificity
100 %
Genes
100 %
Epilepsy, juvenile myoclonic 6.

By MedGene in Slovakia.

CACNB4
Specificity
100 %
Genes
100 %
Episodic Ataxia 5.

By MedGene in Slovakia.

CACNB4
Specificity
100 %
Genes
100 %
DRAVET, SYNDROME & MIOCLONIC EPILEPSY.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CHRNA7, PCDH19, SCN1A, CACNB4, EFHC1, NHLRC1, SCN9A, SCN1B, SCN2A, GABRD, EPM2A, GABRA1, GABRG2
Specificity
8 %
Genes
100 %
EPILEPSY HEREDITARY PANEL.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

STXBP1, ALDH7A1, ARX, CDKL5, PCDH19, SLC2A1, MT-ATP6, SCN1A, CACNA1A, KCNA1, CACNB4, ATP1A2, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, NHLRC1, SCN9A , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Episodic ataxia.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CACNA1A, KCNA1, CACNB4, SLC1A3
Specificity
25 %
Genes
100 %
Ataxia.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PRKCG, POLG, AFG3L2, MTPAP, COQ8A, FXN, APTX, ATM, MRE11, MTTP, SACS, TTPA, CACNA1A, SETX, SYNE1, KCNA1, CACNB4, SLC1A3, SYT14, ANO10 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Epilepsy and Seizure Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH5A1, ALDH7A1, NDUFA1, CYP27A1 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
Hereditary Neuropathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Neurology: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

UBE3A, ADSL, TUBB3, CC2D2A, TMEM67, NPHP1, ADGRV1, CEP290, SHH, POLG, SLC25A19, MECP2, LIAS, GAMT, GATM, STXBP1, TUBA1A, RARS2, CTSD, SLC25A22 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
100 %
Epilepsy and Seizure Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
100 %
Hereditary Neuropathies: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
CACNB4.

By Fulgent Genetics Fulgent Genetics in United States.

CACNB4
Specificity
100 %
Genes
100 %
Idiopathic Generalized Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

UBE3A, ADSL, HSD17B10, ME2, MECP2, STXBP1, SLC9A6, ALDH7A1, ARX, CDKL5, FOXG1, MEF2C, PCDH19, PLP1, SLC2A1, SYNGAP1, SMC1A, GPC3, CSTB, SCN1A , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Early-Onset Epileptic Encephalopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

UBE3A, AUH, ADSL, ADGRV1, POLG, MECP2, LIAS, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, SLC6A8 , (...)

View the complete list with 113 more genes
Specificity
1 %
Genes
100 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
100 %
Ataxia Panel.

By Blueprint Genetics in Finland.

FMR1, ABHD12, TWNK, PRKCG, PAX6, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4, TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, POLG, NDUFS4, AFG3L2 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
100 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Idiopathic Generalized and Focal Epilepsy Panel.

By Blueprint Genetics in Finland.

AMACR, POLG, ALDH7A1, SLC2A1, SCN1A, CASR, KCNA1, CACNB4, CACNA1H, CHRNB2, EFHC1, LGI1, GABRB3, SCN9A, SCN1B, SCN2A, STX1B, SLC6A1, KCNT1, KCNQ2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Episodic ataxia type 5.

By Bioarray in Spain.

CACNB4
Specificity
100 %
Genes
100 %
EPISODIC ATAXIA TYPE 5.

By Laboratorio de Genetica Clinica SL in Spain.

CACNB4
Specificity
100 %
Genes
100 %
JUVENILE MYOCLONIC EPILEPSY.

By Laboratorio de Genetica Clinica SL in Spain.

CACNB4, EFHC1, GABRA1, CLCN2
Specificity
25 %
Genes
100 %
Episodic ataxia panel.

By LifeLabs Genetics in Canada.

KCNA1, CACNB4, SLC1A3
Specificity
34 %
Genes
100 %
Episodic Ataxia Type 5, Sequencing CACNB4 Gene.

By Reference Laboratory Genetics in Spain.

CACNB4
Specificity
100 %
Genes
100 %
Episodic Ataxia , Panel Massive Sequencing (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

CACNA1A, KCNA1, CACNB4, SLC1A3
Specificity
25 %
Genes
100 %
Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes.

By Reference Laboratory Genetics in Spain.

STXBP1, ALDH7A1, ARX, CDKL5, PCDH19, SLC2A1, SCN1A, CACNA1A, KCNA1, CACNB4, ATP1A2, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, NHLRC1, SCN9A, SCN1B , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Severe Myoclonic Epilepsy (Dravet's Syndrome), Panel Massive Sequencing (NGS) 11 Genes.

By Reference Laboratory Genetics in Spain.

PCDH19, SCN1A, CACNB4, EFHC1, NHLRC1, SCN9A, SCN1B, SCN2A, EPM2A, GABRA1, GABRG2
Specificity
10 %
Genes
100 %


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