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Association between genotype and phenotype in patients carrying different functional variants.
| GOF/NF (n = 7) | LOF/POLF (n = 6) | p | |
|---|---|---|---|
| Epilepsy | 4 | 6 | 0.192 |
| DEE | 1 | 5 | 0 . 029 |
| MD | 5 | 5 | 1.000 |
| Death | 4 | 1 | 0.266 |
DEE, development and epileptic encephalopathy; GOF, gain-of-function; LOF, loss-of-function; PLOF, partial-loss-of-function.
The bold font indicates the difference was significant statistically.
