Article
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.
Annals of neurology - 1 Aug 2020
Zaman Tariq, Helbig Katherine L, Clatot Jérôme, Thompson Christopher H, Kang Seok Kyu, Stouffs Katrien, Jansen Anna E, Verstraete Lieve, Jacquinet Adeline, Parrini Elena, Guerrini Renzo, Fujiwara Yuh, Miyatake Satoko, Ben-Zeev Bruria, Bassan Haim, Reish Orit, Marom Daphna, Hauser Natalie, Vu Thuy-Anh, Ackermann Sally, Spencer Careni E, Lippa Natalie, Srinivasan Shraddha, Charzewska Agnieszka, Hoffman-Zacharska Dorota, Fitzpatrick David, Harrison Victoria, Vasudevan Pradeep, Joss Shelagh, Pilz Daniela T, Fawcett Katherine A, Helbig Ingo, Matsumoto Naomichi, Kearney Jennifer A, Fry Andrew E, Goldberg Ethan M
Abstract excerpt
OBJECTIVE: Pathogenic variants in SCN3A, encoding the voltage-gated sodium channel subunit Nav1.3, cause severe childhood onset epilepsy and malformation of cortical development. Here, we define the spectrum of clinical, genetic, and neuroimaging features of SCN3A-related neurodevelopmental disorder. METHODS: Patients were ascertained via an international collaborative network. We compared sodium channels...
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