Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
By A. Escayg, Bryan T. MacDonald, M. Meisler, S. Baulac, G. Huberfeld, I. An-Gourfinkel, A. Brice, E. Leguern, B. Moulard, D. Chaigne and 2 more. Nature Genetics, 2000
1,015 citations recorded by the source corpus.
Subfields: Molecular Biology, Psychiatry and Mental health
View Paper: https://www.semanticscholar.org/paper/18f77f50df91804d9641da0e69637c3aa31ed2f8
How researchers see this paper
The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.
In Molecular Biology
- William A. Catterall
- A. L. Goldin
- F. H. Yu
- T. Scheuer
- P. Distefano
- Takao K. Hensch
- R. Curtis
- Frank Sengpiel
In Psychiatry and Mental health
Citations in the corpus
- Seizures and epilepsy: an overview for neuroscientists. (2015, background): “In different families, genetic defects have been identified in neuronal sodium channels (Escayg et al. 2000) and GABA receptors (Macdonald et al.”
- Resurgence of sodium channel research. (2001, background): “1 (SCN1A) (18).”
- Sodium Channel β4, a New Disulfide-Linked Auxiliary Subunit with Similarity to β2 (2003, background): “1 channel (SCN1A; Escayg et al., 2000; Claes et al., 2001; Wallace et al., 2001).”
- Nav1.1 Localizes to Axons of Parvalbumin-Positive Inhibitory Interneurons: A Circuit Basis for Epileptic Seizures in Mice Carrying an Scn1a Gene Mutation (2007, background): “The importance of genetic background, or modifier genes, has been also suggested in some familial SMEI cases in which SMEI patients have inherited the SCN1A mutations from mildly affected parents (Gennaro et al., 2003; Nabbout et al., 2003; Meisler and Kearney, 2005; Yamakawa, 2005).”