Episodic Ataxia, Type 2; Ea2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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 ).

Genes related to Episodic Ataxia, Type 2; Ea2

CACNA1A

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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.

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 Panel complete gene list SACS, ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, TTPA, VAMP1, CACNA1A, CACNB4, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, SYT14, SIL1, FLVCR1, ANO10, MTPAP, ATN1, AFG3L2, EEF2, FGF14, FXN, SETX, GRM1, ITPR1, KCNA1, KCNC3, KCND3, ATXN3, MRE11, ATM, PDYN, POLG, PPP2R2B, PRKCG 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 Panel complete gene list ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, ATN1, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3, KCND3, ATXN3, PDYN, PPP2R2B, PRKCG 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 %

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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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