Associated Papers
Patients carrying pathogenic SCN8A variants with loss- and gain-of-function effects can be classified into five subgroups exhibiting varying developmental and epileptic components of encephalopathy.
Hack JB et al.
Epilepsia, 2024
SCN8A Encephalopathy: Case Report and Literature Review.
Fan HC et al.
Neurology International, 2021
Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus.
Wagnon JL et al.
Human Mutation, 2018
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.
de Kovel CG et al.
Epilepsy Research, 2014
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