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Epilepsy and neurobehavioral abnormalities in mice with a <i>KCNB1</i> pathogenic variant that alters conducting and non-conducting functions of K <sub>V</sub> 2.1

2019-09-18

Abstract excerpt

Developmental and epileptic encephalopathies (DEE) are a group of severe epilepsies that usually present with intractable seizures, developmental delay and are at a higher risk for premature mortality. Numerous genes have been identified as a monogenic cause of DEE, including KCNB1 . The voltage-gated potassium channel K V 2.1, encoded by KCNB1 , is primarily responsible for delayed rectifier potassium currents...

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Literature Corpus work
62fd3fd6-16a6-5e91-b782-c4499f3d9710
DOI
10.1101/770206
Open publication

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