IndraLab

Statements

Mutated KCNA1 activates CD69. 6 / 6
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reach
"Mutations of KCNA1 and CACNA1A cause episodic ataxia 1 (EA1 : MIM # 160120) and episodic ataxia 2 (EA2 : MIM # 108500), respectively."
12736095
reach
"Heterozygous mutations of KCNA1, the gene encoding potassium channel Kv1.1 subunits, cause episodic ataxia type 1 (EA1), which is characterized by paroxysmal cerebellar incoordination and interictal myokymia."
19779067
reach
"A specific therapy to treat EA1 and epilepsy phenotypes caused by KCNA1 mutations is lacking and pharmacological technologies targeting Kv1.1 channels would be ideal to overcome the limits of available therapeutic options and to offer patients a personalized therapy."
32331416
reach
"In humans, KCNA1 mutations cause the movement disorder episodic ataxia type 1 (EA1), as well as epilepsy, which is characterized by spontaneous recurrent seizures (Paulhus et al., 2020)."
33427415
reach
"EA1 is caused by mutations of the KCNA1 gene coding for the voltage gated potassium channel Kv1.1."
21492892
reach
"The functional consequences of human KCNA1 mutations causing typical myokymia and EA1 have been reported [XREF_BIBR], much less is known about the functional consequences of mutations causing unusual KCNA1 associated phenotypes."
17136396