[The effects of three mutations in SCN1A have been characterized in cultured mammalian cells as a gain-of-function abnormality causing prolonged membrane depolarization, a plausible underlying biophysical mechanism responsible for inherited epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE