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Our study expands the phenotypical spectrum of KCNH1-related encephalopathies to individuals with an attenuated extraneurological phenotype preventing a clinical diagnosis of TBS or ZLS. This subtype may be related to recurrent substitutions of the Gly496, suggesting a genotype-phenotype correlation and, possibly, to variants in the CNBHD domain. Pathogenic variants are a frequent cause of developmental and epileptic encephalopathy. We recruited 13 adults (between 18 years and 45 years of age) with encephalopathy and reviewed their clin
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