A KCNB1 gain of function variant causes developmental delay and speech apraxia but not seizures
Objective: Numerous pathogenic variants in KCNB1, which encodes the voltage-gated potassium channel, KV2.1, are linked to developmental and epileptic encephalopathies and associated with loss-of-function, -regulation, and -expression of the channel. Here we describe a novel de novo variant (P17T) oc...
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| Main Authors: | , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2022-12-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |