Objective: To analyze clinical phenotypes associated with KCNC1 variants other than the Progressive Myoclonus Epilepsy‐causing variant p.Arg320His, determine the electrophysiological functional impact of identified variants and explore genotype‐phenotype‐physiological correlations.Methods: Ten cases with putative pathogenic variants in KCNC1 were studied. Variants had been identified via whole‐exome sequencing or gene panel testing. Clinical phenotypic data were analyzed. To determine functional impact of variants detected in the K_v3.1 channel encoded by KCNC1, Xenopus laevis oocyte expression system and automated two‐electrode voltage clamping were used.Results: Six unrelated patients had a Developmental and Epileptic Encephalopathy and a recurrent de novo variant p.Ala421Val (c.1262C > T). Functional analysis of p.Ala421Val revealed loss of function through a significant reduction in whole‐cell current, but no dominant‐negative effect. Three patients had a contrasting phenotype of Developmental Encephalopathy without seizures and different KCNC1 variants, all of which caused loss of function with reduced whole‐cell currents. Evaluation of the variant p.Ala513Val (c.1538C > T) in the tenth case, suggested it was a variant of uncertain significance.Interpretation: 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.

Hospitalised, unwell patients have vital signs such as heart rate (HR), oxygen saturation (SpO₂) and temperature measured multiple times a day to detect clinical deterioration and monitor health trajectories. Advancements in contact-free (ambient) sensors (AS) to measure vital signs can help mitigate risks due to skin injury and infection transmission seen in conventional hospital equipment. This prospective, observational clinical study aims to validate vital sign measurements from a multi-channel AS compared to conventional equipment in three cohorts: patients in a hospital ward, patients at home within a Hospital-at-Home service, and healthy volunteers. Data analysis of 571 paired measurements from 29 participants indicates that heart rate measurements via AS were accurate, though they lacked precision, with the clinical agreement range between 6.38 and 6.49 beats per minute. Temperature and oxygen saturation measurements showed less agreement when compared with the reference standard. In conclusion, ambient sensors show promising utility in measuring vital signs, with this study amongst the first of its kind to utilise this in measuring vital signs in hospitalised patient cohorts in both ward and home environments.