IndraLab

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CACNA1A activates FHM1. 19 / 19
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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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"FHM1 is caused by variants in CACNA1A, encoding a P/Q type neuronal voltage gated calcium channel alpha subunit, which is also associated with episodic ataxia type 2 (EA2)."
34092402
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"In addition, some CACNA1A gene point mutations causing FHM1 may be associated with impairment of the cerebellar system."
26675662
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"FHM1 is induced by mutations in CACNA1A at chromosome 19p13, which encodes the Cav2.1 (P/Q-type)."
27313535
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"FHM1, which accounts for approximately 50% of FHM cases, is caused by mutations in the CACNA1A gene, which encodes the alpha-1 subunit of a high-voltage-gated P/Q type calcium channel (Cav2.1)."
22969264
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"FHM is a genetically heterogeneous disease, in which mutations can occur in the ion transportation genes CACNA1A, ATP1A2, and SCN1A, promoting the different types of familial migraines, FHM1, FHM2 and FHM3."
27313535
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"We report a 63-year-old woman with FHM1 caused by an R583Q mutation in the CACNA1A gene, clinically presenting with migraine and permanent cerebellar ataxia."
25969684
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"FHM1, FHM2 and FHM3 are caused by mutations in the ion-channel genes CACNA1A, ATP1A2 and SCN1A, respectively [XREF_BIBR - XREF_BIBR]."
18846413
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"In particular, FHM1 (OMIM 141500) is caused by mutations in the CACNA1A calcium channel subunit (see below), FHM2 is caused by mutations in the alpha2 subunit of the Na, K-ATPase pump (ATP1A2; OMIM 602481), and FHM3 has been more recently associated to mutations in Na v 1.1 channels."
26236192
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"Gain-of-function mutations in the CACNA1A gene causing FHM1 lead to increased Ca 2+ influx in presynaptic terminals, which, in turn, results in increased glutamate release in the synaptic cleft [11, 12]."
32237043
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"The authors investigated whether large scale genetic rearrangements in CACNA1A can cause EA2 and FHM1."
19586927
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"Familial hemiplegic migraine type 1 (FHM1, OMIM # 141500), caused by gain-of-function variants in CACNA1A, is an extreme type of migraine with aura that typically presents in the first or second decade of life with episodes of headaches, sensory loss, visual disturbance, hemiparesis, and cerebellar signs such as nystagmus or ataxia (Byers etal.,2016; Jen,2001)."
32692472
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"FHM1 is caused by mutations in CACNA1A gene that codes for the pore forming alpha 1A subunit of neuronal voltage gated Ca V 2.1 channels [XREF_BIBR]."
27032388
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"Episodic ataxia, type 2 (EA2) and SCA6 are allelic disorders to FHM1 caused by mutations in the CACNA1A gene on chromosome 19p13 encoding the neuronal P/Q-type voltage gated calcium channel [XREF_BIBR, XREF_BIBR]."
25969684
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"Familial hemiplegic migraine type 1 (FHM1), a severe migraine with aura variant, is caused by mutations in the CACNA1A gene."
19847904
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"We present a case with FHM1 caused by an R583Q mutation in the CACNA1A gene with cerebellar ataxia, and also parkinsonism, a feature which has not previously been reported in association with FHM1."
25969684
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"FHM1 is caused by mutations in the CACNA1A gene, which encodes the alpha1A subunit of Cav2.1 channels; the R192Q mutation in CACNA1A causes a mild form of FHM1, whereas the S218L mutation causes a severe, often lethal phenotype."
19104150
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"FHM type 1 (FHM1) is caused by mutations in the CACNA1A gene, encoding the pore-forming subunit of Ca 2.1 channels that conduct P/Q-type Ca current (Fig. 5A; (Ophoff et al., 1996))."
19005038
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"Genetically and clinically heterogeneous, FHM1 is caused by mutations in CACNA1A and FHM2 by mutations in ATP1A2."
17435187