IndraLab

Statements

KCNA1 activates CD69. 19 / 19
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"EA1 is caused by mutations in KCNA1 located on chromosome 12, which encodes Kv1.1, a human homolog of the Shaker voltage gated potassium channel in Drosophila."
33613440
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"Several other EA syndromes have been described; mutations in KCNA1 - the gene that encodes the K V 1.1 potassium channel - underlie EA1, which is characterised by brief attacks of ataxia (lasting minutes) with interictal myokymia [XREF_BIBR - XREF_BIBR]."
20948794
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"Episodic ataxia type 1 (EA1) is caused by mutations in the KCNA1 gene encoding the fast potassium channel Kv1.1 and is characterized clinically by brief episodes of ataxia and continuous and spontaneous motor unit activity."
23909822
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"Mutations in the KCNA1 gene, which encodes for the alpha subunit of the voltage gated potassium channel Kv1.1, cause episodic ataxia type 1 (EA1)."
25312505
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"EA1 is caused by mutations in the potassium channel gene KCNA1, which encodes the Shaker related channel Kv1.1."
30891074
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"EA1 is caused by mutations in the KCNA1 gene on chromosome 12p13."
18980218
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"Notably, within the same PVP region, another KCNA1 variant (p. V404I) causing a dominantly transmitted, familial EA1 phenotype and responsible for milder in vitro LoF effects has been described."
34778950
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"EA1, which features persistent myokymia and usually brief ataxia episodes, is caused by mutations in the KCNA1 gene, encoding the neuronal potassium channel Kv1.1 [XREF_BIBR]."
32466254
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"Seizures and ataxia responded poorly to antiepileptic drugs (topiramate, oxcarbazepine, valproic acid, bromide), including acetazolamide (known to be effective in EA1 caused by mutations in KCNA1 18)."
25751627
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"While a small subset of individuals with EA1 caused by LOF variants in KCNA1 has shown quite good therapeutic response to the commonly used carbonic anhydrase inhibitor acetazolamide (AZA), five of nine attempted treatments were not successful (see Table 1; Figure 2)."
34566847
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"Mutations in the KCNA1 gene are known to cause episodic ataxia and myokymia syndrome type 1 (EA1)."
26395884
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"Mutations in the KCNA1 gene induce LOF defects and change the biophysical properties of heteromeric Kv1 channels, causing epilepsy or Episodic Ataxia Type 1 (EA1) or a mixed phenotype [35]."
39513870
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"Variants in another potassium channel gene, KCNA1 (K V 1.1), underlie EA1 (Browne etal., 1994)."
29168350
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"Although the classic phenotype of episodic ataxia type 1 (EA1) caused by variants in KCNA1 includes episodic ataxia and myokymia, further genotype-phenotype correlations are difficult to establish due to highly heterogeneous clinical presentations associated with KCNA1 pathogenic variants."
33355533
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"Numerous missense mutations have been described previously in KCNA1 that cause EA1."
15532032
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"EA1 is caused by mutations in KCNA1 gene located on chromosome 12p13 (MIM 160120), which encodes Kv1.1, a voltage gated potassium channel [XREF_BIBR]."
22379397
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"Episodic ataxia type 1 (EA-1) is caused by missense mutations in the potassium channel gene KCNA1, whereas episodic ataxia type 2 (EA-2) is caused by missense and nonsense mutations in the calcium channel gene CACNA1A."
11960817
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"Mutations in a potassium channel gene (KCNA1) located on chromosome 12p13 underlie EA1, and in a voltage dependent calcium channel gene (CACNA1A) located on chromosome 19p13 can lead to EA2."
24665320
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"To date, eight types of EA have been described; the dominant forms are EA1 (OMIM, 160120) and EA2 (OMIM, 108500), caused by mutations in KCNA1 (OMIM, 176260) and CACNA1A (OMIM, 601011), respectively."
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