Article

Genotype-phenotype correlations in <i>SCN8A</i>-related disorders reveal prognostic and therapeutic implications

2021-03-26

Abstract excerpt

We report detailed functional analyses and genotype-phenotype correlations in 433 individuals carrying disease-causing variants in SCN8A , encoding the voltage-gated Na + channel Na V 1.6. Five different clinical subgroups could be identified: 1) Benign familial infantile epilepsy (BFIE) (n=17, normal cognition, treatable seizures), 2) intermediate epilepsy (n=36, mild ID, partially pharmacoresponsive), 3) develop...

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Literature Corpus work: af4f65fe-f1c2-5acb-a493-fdeb6837fdbf
DOI: 10.1101/2021.03.22.21253711

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