IndraLab

Statements

Mutated CACNA1A activates calcium(2+). 7 / 7
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"However, little is known about how ataxia can be caused by CACNA1A mutations that increase the Ca (2+) influx, such as the S218L missense mutation."
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"CACNA1A mutations produce gain-of-function of the Ca V 2.1 channel and result in increased neurotransmitter release from cortical neurons [XREF_BIBR]."
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"The Ca (2+) channelopathies caused by mutations of the CACNA1A gene that encodes the pore forming subunit of the human Cav2.1 (P/Q-type) voltage gated Ca (2+) channel include episodic ataxia type 2 (EA2)."
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"Importantly, CACNA1A mutations promoting increased Ca 2+ influx seem to selectively capacitate glutamate release at pyramidal neurons, without altering fast spiking inhibitory interneurons [XREF_BIBR]."
| PMC
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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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"Largely based on work in the ataxic mouse mutant tottering (which carries a mutation of the Cacna1a gene of the P/Q voltage activated calcium channel), 4-AP is hypothesized to function by enhancing excitability or rhythmicity of floccular Purkinje cells."
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"Although hemiplegic migraine (HM) is linked to CACNA1A mutations that enhance Ca V 2.1 channel activity and EA2, on the contrary, is associated to loss-of-function mutations, symptomatology overlap of HM, EA2 and SCA6 are well recognized at the clinical level."
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