EA2
MCID: EPS035
MIFTS: 66
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Episodic Ataxia, Type 2 (EA2)
Categories:
Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Episodic Ataxia, Type 2:
Characteristics:Inheritance:
Episodic Ataxia, Type 2:
Autosomal dominant 57
Familial Paroxysmal Ataxia:
Autosomal dominant 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
most common episodic ataxia syndrome onset usually in childhood or adolescence onset may occur in adulthood incomplete penetrance progressive ataxia episodes last from several hours to days frequency of episodes ranges from several per week to several per year symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes favorable response of episodic attacks to acetazolamide phenotypic overlap with fhm1 and sca6 Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Muscle diseases
ICD10:
32
Orphanet: 58
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OMIM®: 57 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 (160120). (108500) (Updated 08-Dec-2022) MalaCards based summary: Episodic Ataxia, Type 2, also known as episodic ataxia type 2, is related to familial hemiplegic migraine and hereditary ataxia, and has symptoms including ataxia, vertigo and tinnitus. An important gene associated with Episodic Ataxia, Type 2 is CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A), and among its related pathways/superpathways are ERK Signaling and MIF Mediated Glucocorticoid Regulation. The drugs Altretamine and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and spinal cord, and related phenotypes are nystagmus and ataxia GARD: 19 Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia. Disease Ontology: 11 An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has material basis in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A. UniProtKB/Swiss-Prot: 73 An autosomal dominant disorder characterized by acetozolamide- responsive attacks of ataxia, migraine-like symptoms, interictal nystagmus, and cerebellar atrophy. Orphanet: 58 A form of hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia. |
Human phenotypes related to Episodic Ataxia, Type 2:58 30 (show all 23)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:108500 (Updated 08-Dec-2022)UMLS symptoms related to Episodic Ataxia, Type 2:ataxia; vertigo; tinnitus; weakness MGI Mouse Phenotypes related to Episodic Ataxia, Type 2:45
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Drugs for Episodic Ataxia, Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 13)
Interventional clinical trials:(show all 12)
Cochrane evidence based reviews: episodic ataxia, type 2 |
Organs/tissues related to Episodic Ataxia, Type 2:
MalaCards :
Brain,
Cerebellum,
Spinal Cord,
Heart,
Prefrontal Cortex,
Dorsal Root Ganglion,
Hypothalamus
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Articles related to Episodic Ataxia, Type 2:(show top 50) (show all 1622)
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ClinVar genetic disease variations for Episodic Ataxia, Type 2:5 (show top 50) (show all 1717)
UniProtKB/Swiss-Prot genetic disease variations for Episodic Ataxia, Type 2:73 (show all 22)
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Search
GEO
for disease gene expression data for Episodic Ataxia, Type 2.
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Pathways related to Episodic Ataxia, Type 2 according to GeneCards Suite gene sharing:(show all 34)
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Cellular components related to Episodic Ataxia, Type 2 according to GeneCards Suite gene sharing:
Biological processes related to Episodic Ataxia, Type 2 according to GeneCards Suite gene sharing:(show all 20)
Molecular functions related to Episodic Ataxia, Type 2 according to GeneCards Suite gene sharing:(show all 12)
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