Episodic Ataxia, Type 2; Ea2

Description

Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007).For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Episodic Ataxia, Type 2; Ea2

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Pain
  • Motor delay

And another 53 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.

Alternative names

Episodic Ataxia, Type 2; Ea2 Is also known as cerebellopathy, hereditary paroxysmal, ataxia, familial paroxysmal, capa, acetazolamide-responsive hereditary paroxysmal cerebellar ataxia, apca, cerebellar ataxia, paroxysmal, acetazolamide-responsive, ataxia, episodic, with nystagmus, episodic ataxia, nystagmu.

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.


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Episodic Ataxia, Type 2; Ea2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SCA6 (CACNA1A) Repeat Expansion Test.

By Athena Diagnostics Inc (United States).

CACNA1A
Specificity
100 %
Genes
100 %
Ataxia, Common Repeat Expansion Evaluation.

By Athena Diagnostics Inc (United States).

ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, TBP, CACNA1A, ATXN3
Specificity
13 %
Genes
100 %
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 %
Hemiplegic Migraine Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, CACNA1A, ATP1A2
Specificity
34 %
Genes
100 %
CACNA1A Sequencing Test.

By Athena Diagnostics Inc (United States).

CACNA1A
Specificity
100 %
Genes
100 %

We have 156 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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