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

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Helen V. Firth, Shola M. Richards, A. Paul Bevan et al. · The American Journal of Human Genetics · 2009 · 2.1K citations · Full text

Life Sciences, Bioinformatics, Genetics +14

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich et al. · Brain · 2017 · 575 citations · Full text

Medicine, Genetics, Neurology +17

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

Krishna R. Veeramah, Janelle E. O’Brien, Miriam H. Meisler et al. · The American Journal of Human Genetics · 2012 · 439 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Double-mutant cycles: a powerful tool for analyzing protein structure and function

Amnon Horovitz · Folding and Design · 1996 · 332 citations

Life Sciences, Biochemistry, Molecular Biology +8

Opposing Effects on Na V 1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures

Roy Ben‐Shalom, Caroline M. Keeshen, Kiara N. Berríos et al. · Biological Psychiatry · 2017 · 296 citations · Full text

Life Sciences, Genetics, Neuroscience +17