IndraLab

Statements

CACNA1A activates EA2. 14 / 14
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"EA2 is caused by mutations in CACNA1A, a gene coding for the neuronal voltage gated calcium channel Cav1.1."
21492892
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"EA2 is caused by mutations in the CACNA1A gene, mapped to chromosome 19p13 [XREF_BIBR], which encodes the alpha-subunit of the P/Q-type voltage gated calcium channel, Ca v 2.1 [XREF_BIBR, XREF_BIBR]."
22379397
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"The authors investigated whether large scale genetic rearrangements in CACNA1A can cause EA2 and FHM1."
19586927
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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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"EA2 is caused by a wide range of mutations in CACNA1A, localized on chromosome 19p, which encodes the pore forming alpha 1A subunit of the Ca V 2.1 Ca 2+ channel (Ophoff etal."
27066515
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"CACNA1A and CACNB4 mutations lead to EA2 (MIM 108500) and EA5 (MIM 613855), respectively [XREF_BIBR, XREF_BIBR]."
26715324
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"CACNA1A variants underlie three neurological disorders : familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6)."
33544220
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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."
30314295
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"Dominant mutations in CACNA1A underlie at least three allelic diseases : EA2, familial hemiplegic migraine type 1 and spinocerebellar ataxia type 6."
22379397
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"EA2 is caused by mutations in CACNA1A."
19822774
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"Both EA2 and FHM1 are caused by mutations in the CACNA1A gene, which codes for the a1A subunit of the P/Q-type voltage gated calcium channel."
33613440
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"Molecular genetic tests for episodic ataxia type 2 (EA2) usually target only the specific calcium channel gene (CACNA1A) that is known to cause EA2."
30314295
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"Mutations of KCNA1 and CACNA1A cause episodic ataxia 1 (EA1 : MIM # 160120) and episodic ataxia 2 (EA2 : MIM # 108500), respectively."
12736095
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"We describe a family with episodic ataxia, clinically indistinguishable from EA2, that was not caused by CACNA1A gene mutation."
12525875