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ENEpisodic 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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Episodic Ataxia, Type 2, also known as episodic ataxia type 2, is related to familial hemiplegic migraine and spinocerebellar ataxia 6, and has symptoms including ataxia, tinnitus and vertigo. 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 Transmission across Chemical Synapses and DREAM Repression and Dynorphin Expression. The drugs Sargramostim and Urofollitropin have been mentioned in the context of this disorder. Affiliated tissues include brain and cerebellum, and related phenotypes are nystagmus and ataxia
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