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. 2023 Feb 7;100(6):e603–e615. doi: 10.1212/WNL.0000000000201492

Figure 2. Phenotypic Spectrum Associated With KCNH5 Missense Variants.

Figure 2

The number of individuals in the phenotype group is represented by circle size, and colors of each circle and star match the variant/phenotype class. The individuals with the p.Lys324Glu and p.Arg327His variants in the S4 transmembrane domain presented with an infantile-onset DEE with drug-resistant generalized and focal seizures, whereas the 4 individuals with the nearby recurrent p.Arg333His variant had drug-responsive seizures and became seizure-free. The 2 individuals with variants in or directly at the junction of the S6 transmembrane domain (p.Ile463Thr and p.Thr468Pro) are the most severely affected with a neonatal-onset movement disorder and early-infantile DEE. The single individual with the nearby p.Phe471Ser variant was less severely affected with moderate ID and drug-responsive seizures. Range is indicated in parentheses where applicable. DE = developmental encephalopathy; DEE = developmental and epileptic encephalopathy.