Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations.
Jillian M CameronSnezana MaljevicUmesh NairYe Htet AungBenjamin CognéStéphane BézieauEdward BlairBertrand IsidorChristiane ZweierAndré ReisMary Kay KoenigTimothy MaarupDean SarcoAlexandra AfenjarA H M Mahbubul HuqMary KukolichThierry Billette de VillemeurCaroline NavaBénédicte HéronSteven PetrouSamuel Frank BerkovicPublished in: Annals of clinical and translational neurology (2019)
These are the first reported cases of Developmental and Epileptic Encephalopathy due to KCNC1 mutation. The spectrum of phenotypes associated with KCNC1 is now broadened to include not only a Progressive Myoclonus Epilepsy, but an infantile onset Developmental and Epileptic Encephalopathy, as well as Developmental Encephalopathy without seizures. Loss of function is a key feature, but definitive electrophysiological separation of these phenotypes has not yet emerged.