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Emerging neurodevelopmental mechanisms in patient induced pluripotent stem cells-derived spheroids modelling <i>SCN1A</i> Dravet Syndrome

2024-05-10

Abstract excerpt

SCN1A encodes Naᵥ1.1, a voltage-gated sodium channel preferentially expressed in GABAergic interneurons, and it is the major cause of Dravet Syndrome (DS), a rare condition of developmental and epileptic encephalopathy (DEE). Among over 1000 DS mutations reported to date, almost all cause SCN1A loss-of function (LoF). A reduction in NaV1.1 function in inhibitory neurons would subsequently cause an over-excitation...

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Literature Corpus work
6cb471ee-4003-538b-bf29-ee7fb345278c
DOI
10.1101/2024.05.09.593441
Open publication

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Emerging neurodevelopmental mechanisms in patient induced pluripotent stem cells-derived spheroids modelling <i>SCN1A</i> Dravet SyndromeDOI 10.1101/2024.05.09.593441
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