A neurodevelopmental disorder caused by a dysfunctional CACNA1A allele
P/Q-type Ca2+ flux into nerve terminals via CaV2.1 channels is essential for neurotransmitter release at neuromuscular junctions and nearly all central synapses. Mutations in CACNA1A, the gene encoding CaV2.1, cause a spectrum of pediatric neurological disorders. We have identified a patient harbori...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-06-01
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| Series: | eNeurologicalSci |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S240565022300014X |