IndraLab

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Mutated CACNA1A activates FHM1. 5 / 5
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"To date, 18 missense mutations of the CACNA1A gene that lead to FHM1 have been discovered."
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"FHM is classified into 3 types : FHM1, which is caused by CACNA1A mutations on chromosome 19p13, FHM2, caused by ATP1A2 mutations on chromosome 1q21-23, and FHM3, caused by SCN1A mutations on chromosome 2q24 [XREF_BIBR, XREF_BIBR]."
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"FHM1 is caused by a gain-of-function mutation of the CACNA1A gene, which causes calcium influx into neurons, enhanced glutamatergic neurotransmission, cortical hyperexcitability, and increased susceptibility to cortical spreading depression (CSD) [13, 14]; however, there is only a link to CSD and not to migraine with a typical aura."
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"While some gain-of-function CACNA1A mutations cause only FHM1, others can lead to additional maladies, such as epileptic attacks."
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"Notably, CACNA1A mutations causing FHM1 have been shown to increase the Ca2+ flux through single channels15 and to lower the threshold for cortical spreading depression, the likely substrate of migraine aura in a mouse model,16 and yet they appear to be less efficient in triggering neurotransmitter release when expressed in neurons from CACNA1A-null mice.17 Notwithstanding the limitations of extrapolating from ion-channel function to whole organisms, Dichgans and colleagues ' findings broadly support the principle that migraine aura has a so called ionopathic basis."
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