Episodic Ataxia, Type 2 (EA2)

Alias:
Episodic Ataxia Type 2
Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia
Familial Paroxysmal Ataxia
Apca
Capa
Ea2
Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive
Episodic Ataxia, Nystagmus-Associated
Cerebellopathy, Hereditary Paroxysmal
Episodic Ataxia Nystagmus-Associated
Hereditary Paroxysmal Cerebellopathy
Ataxia, Episodic, with Nystagmus
Episodic Ataxia with Nystagmus
Ataxia, Familial Paroxysmal
Ataxia, Episodic, Type 2
Episodic Ataxia 2
Ea-2
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
周期性共济失调2型,也称为周期性共济失调2型,与家族性偏瘫性偏头痛和脊髓小脑性共济失调6型有关,其症状包括共济失调、耳鸣和眩晕。与周期性共济失调2型有关的重要基因是CACNA1A(钙电压门控通道亚基α1A),其相关通路/超级通路包括化学突触的传递和DREAM抑制和二氢吗啡肽表达。在该疾病的背景下提到了Sargramostim和Urofollitropin这两种药物。相关组织包括大脑和小脑,相关表型为眼震和共济失调。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
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38
400
141

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
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Mutations
No data available

Related Drugs

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Status
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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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No Data Found!
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