Descreva sintomas, busque uma doença ou conte sua história. Eu pesquiso em 10.468 doenças raras.
Raras pode cometer erros. Não substitui orientação médica profissional.
1 ensaios clínicos encontrados.
Neurodevelopmental features in KCNQ2 developmental and epileptic encephalopathy may have limited associations with K(V)7.2 dysfunction.
Delayed excitability recovery and downregulation of neurodevelopmental pathways contribute to phenotypic differences in KCNQ2-related disorders.
Targeting Kv7 Potassium Channels for Epilepsy.
Genetic features and pharmacological rescue of novel Kv7.2 variants in patients with epilepsy.
Novel KCNQ2 Variants Related to a Variable Phenotypic Spectrum Ranging from Epilepsy with Auditory Features to Severe Developmental and Epileptic Encephalopathies.