Browsing University of Galway Theses (PhD Theses) by Subject "KCNQ2-Developmental Epileptic Encephalopathy"
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Modelling human brain circuitry in patients with KCNQ2-Developmental Epileptic Encephalopathy using induced pluripotent stem cells
(NUI Galway, 2023-10-16)Mutations (pathogenic variants) in KCNQ2, which encode the voltage-dependent K+ channel Kv7.2 (responsible for neuronal M-current) can cause developmental epileptic encephalopathy (DEE), a disorder presenting with ...