Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation

Case report 3

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Early onset epileptic encephalopathy caused by de novo <i><scp>SCN</scp>8A</i> mutations

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Life Sciences, Genetics, Molecular Genetics +16

An Increase in Persistent Sodium Current Contributes to Intrinsic Neuronal Bursting After Status Epilepticus

Shmuel Chen, Hailing Su, Cuiyong Yue et al. · Journal of Neurophysiology · 2010 · 120 citations

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<i>De Novo</i> <i>SCN8A</i> Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and Movement Disorders

Ulvi Vaher, Margit Nõukas, Tiit Nikopensius et al. · Journal of Child Neurology · 2013 · 67 citations

Life Sciences, Genetics, Molecular Genetics +17