A novel loss-of-function KCNB1 gene variant in a twin with global developmental delay and seizures
Human voltage-gated potassium (Kv) channels are expressed by a 40-member gene family that is essential for normal electrical activity and is closely linked to various excitability disorders. Function-altering sequence variants in the KCNB1 gene, which encodes the neuronally expressed Kv2.1 channel,...
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| Principais autores: | , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Frontiers Media S.A.
2024-10-01
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| Serija: | Frontiers in Cellular Neuroscience |
| Teme: | |
| Online dostop: | https://www.frontiersin.org/articles/10.3389/fncel.2024.1477989/full |
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