IndraLab

Statements

Mutated SCN2A inhibits ARSD. 2 / 2
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"Contrary to SCN1A loss-of-function mutations in patients with severe epilepsies such as Dravet syndrome XREF_BIBR, XREF_BIBR, SCN2A gain-of-function (increased or accelerated, but not toxic) has recently been recognized as a cause of early infantile-onset severe epileptic encephalopathies such as Ohtahara syndrome, whereas loss-of-function SCN2A mutations underlie ASD or intellectual disability with later-onset mild epilepsy or without epilepsy XREF_BIBR, XREF_BIBR, XREF_BIBR."
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"Contrary to SCN1A loss-of-function mutations in patients with severe epilepsies such as Dravet syndrome , SCN2A gain-of-function (increased or accelerated, but not toxic) has recently been recognized as a cause of early infantile-onset severe epileptic encephalopathies such as Ohtahara syndrome, whereas loss-of-function SCN2A mutations underlie ASD or intellectual disability with later-onset mild epilepsy or without epilepsy ."
30175250