[SCN1A mutations associated with ICEGTC (intractable childhood epilepsy with generalized tonic-clonic seizures) result in a wide spectrum of biophysical defects, including gating impairments, shifted voltage dependence and reduced use dependence.]. 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