IndraLab

Statements

KCNA1 activates EE. 2 / 2
| 2
reach
"Thus, the KCNA1 CNV is likely a key contributor to both the EE and SUDEP phenotypes, especially given the strong association between missense mutations in the PVP motif and severe forms of epilepsy and intellectual disability."
32316562
reach
"Pro‐Val‐Pro motif variants 21 and copy number variants in KCNA1 are likely to cause EE, and LOF variants in the gene can cause mental retardation and even sudden unexpected death in epilepsy."
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