Associated Papers
Integrated genotype-phenotype function analysis reveals distinct pathogenic mechanisms for cognitive impairment in KCNQ2-related disorders.
Xiong J et al.
Epilepsia, 2026
Constitutive opening of the Kv7.2 pore activation gate causes KCNQ2-developmental encephalopathy.
Nappi M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy.
Nappi M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
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