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Complex Biophysical Changes and Reduced Neuronal Firing in an SCN8A Variant Associated with Developmental Delay and Epilepsy

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

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE（2024）

Cited 1|Views34
Key words
SCN8A,Developmental epileptic encephalopathy,Patch -clamp,Neuronal and structural modeling,Biophysical analysis,G1625R
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