Complex biophysical changes and reduced neuronal firing in an SCN8A variant associated with developmental delay and epilepsy

Author:

Quinn Shir,Zhang Nan,Fenton Timothy A.,Brusel Marina,Muruganandam Preethi,Peleg Yoav,Giladi Moshe,Haitin Yoni,Lerche Holger,Bassan Haim,Liu Yuanyuan,Ben-Shalom Roy,Rubinstein Moran

Funder

BMBF Berlin

Tel Aviv Sourasky Medical Center

Hartwell Foundation

Israel Cancer Association

Tel Aviv University Faculty of Medicine

Israel Cancer Research Fund

DFG

ISF

Publisher

Elsevier BV

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4. Distinguishing loss-of-function and gain-of-function SCN8A variants using a random forest classification model trained on clinical features;Hack;Neurol. Genet.,2023

5. Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability;Liu;Brain,2019

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