Episodic Ataxia, Type 6; Ea6

Clinical Features

Top most frequent phenotypes and symptoms related to Episodic Ataxia, Type 6; Ea6

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Motor delay
  • Dysarthria
  • Fatigue
  • Dysphagia
  • Vomiting
  • Cerebellar atrophy

And another 17 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Episodic Ataxia, Type 6; Ea6 Recommended genes panels

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

By Athena Diagnostics Inc (United States).

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

By Athena Diagnostics Inc (United States).

SACS, ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, TTPA, VAMP1, CACNA1A, CACNB4, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, SYT14 , (...)

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

By Athena Diagnostics Inc (United States).

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

By Athena Diagnostics Inc (United States).

ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, ATN1, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
Episodic Ataxia type 6.

By Laboratorio di Neurogenetica Istituto di Farmacologia Traslazionale - CNR (Italy).

SLC1A3
Specificity
100 %
Genes
100 %
SLC1A3. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

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

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

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

You can get up to 29 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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