Complex biophysical changes and reduced neuronal firing in anSCN8Avariant associated with developmental delay and epilepsy
Shir Quinn,
Nan Zhang,
Timothy A. Fenton
et al.
Abstract:SummaryBackgroundMutations in theSCN8Agene, encoding the voltage-gated sodium channel NaV1.6, lead to various neurodevelopmental disorders. TheSCN8Ap.(Gly1625Arg) mutation (NaV1.6G1625R) was identified in a patient diagnosed with developmental epileptic encephalopathy (DEE), presenting with moderate epilepsy and severe developmental delay.MethodsWe performed biophysical and neurophysiological characterizations of NaV1.6G1625Rin Neuro-2a cells and cultured hippocampal neurons, followed by computational modeling… Show more
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