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Article

A knock‐in mouse model for KCNQ2‐related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment

2 Apr 2020

Abstract excerpt

Abstract Objective Early onset epileptic encephalopathy with suppression‐burst is one of the most severe epilepsy phenotypes in human patients. A significant proportion of cases have a genetic origin, and the most frequently mutated gene is KCNQ2, encoding Kv7.2, a voltage‐dependent potassium channel subunit, leading to so‐called KCNQ2‐related epileptic encephalopathy (KCNQ2‐REE). To study the pathophysiology of...

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PMID: 32239694
DOI: 10.1111/epi.16494

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