Article

<i>CACNA1A</i> haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability

2024-03-18

Abstract excerpt

Haploinsufficiency of the CACNA1A gene, encoding the pore-forming α1 subunit of P/Q-type voltage-gated calcium channels, is associated with a clinically variable phenotype ranging from cerebellar ataxia, to neurodevelopmental syndromes with epilepsy and intellectual disability. To understand the pathological mechanisms of CACNA1A loss-of-function variants, we characterized a human neuronal model for CACNA1A ha...

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Literature Corpus work: a83252e8-fe67-5d05-a9ec-e465c022569b
DOI: 10.1101/2024.03.18.585506

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