<i>CACNA1H</i>missense mutations associated with amyotrophic lateral sclerosis alter Ca_v3.2 T-type calcium channel activity and reticular thalamic neuron firing

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. In a recent study by Steinberg and colleagues, 2 recessive missense mutations were identified in the Cav3.2 T-type calcium channel gene (CACNA1H), in a family with an affected proband (early onset, long duration ALS) and 2 unaffected parents. We have introduced and functionally...

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