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KCNQ2 activates EIEE7. 2 / 2
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"However, unlike in benign outcomes, such as normal neurodevelopment of self‐limited BFNS, KCNQ2 variants can also lead to EIEE7 (OMIM # 613720) with intractable epilepsy characteristics (Weckhuysen et al., 2012)."
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"By contrast, EIEE7 is nearly always caused by de novo KCNQ2 missense variants, and characterized by multiple, pharmacoresistant seizures beginning in the first few days of life, burst-suppression pattern or multifocal epileptiform activity at the EEG, and moderate to severe developmental impairment."
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