SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.
Tariq ZamanKatherine L HelbigJérôme ClatotChristopher H ThompsonSeok Kyu KangKatrien StouffsAnna E JansenLieve VerstraeteAdeline JacquinetElena ParriniRenzo GuerriniYuh FujiwaraSatoko MiyatakeBruria Ben-ZeevHaim BassanOrit ReishDaphna MaromNatalie HauserThuy-Anh VuSally AckermannCareni E SpencerNatalie LippaShraddha SrinivasanAgnieszka CharzewskaDorota Hoffman-ZacharskaDavid FitzpatrickVictoria HarrisonPradeep VasudevanShelagh JossDaniela T PilzKatherine A FawcettIngo HelbigNaomichi MatsumotoJennifer A KearneyAndrew E FryEthan M GoldbergPublished in: Annals of neurology (2020)
Our study defines SCN3A-related neurodevelopmental disorder along a spectrum of severity, but typically including epilepsy and severe or profound developmental delay/intellectual disability. Malformations of cortical development are a characteristic feature of this unusual channelopathy syndrome, present in >75% of affected individuals. Gain of function at the channel level in developing neurons is likely an important mechanism of disease pathogenesis. ANN NEUROL 2020;88:348-362.