SCN1A and epilepsy: We present a patient with an early-onset, temperature-sensitive epilepsy phenotype and a heretofore uncharacterised de novo heterozygous SCN1A mutation (c.3818C > T, ClinVar Accession: RCV000180969.1) coding for a mutant in DIIIS2 of the NaV1.1 channel (p.Ala1273Val).