EGR3 Deletion Rescues Developmental and Epileptic Encephalopathy in <i>Kcna1</i>-null Mice.

ABSTRACT: KCNA1 encodes the α-subunit of the voltage-gated potassium channel K_V1.1. Mutations in K_V1.1's pore domain result in developmental and epileptic encephalopathy (DEE), where early life seizures and a culprit lesion synergistically disrupt neurodevelopmental trajectories, resulting in intellectual disability that often presents with disturbances in sleep, sociability and sensory processing. Abnormalities in the subcellular localization of Kv1.1, via mutations in/autoantibodies against LGI1 and CNTNAP2, also give rise to syndromes of epilepsy and neuropsychiatric impairment. Mice with deletions of Kcna1 ^("-/-") display spontaneous seizures at 2-3 weeks of age and premature mortality. In this study, we applied instrumented home-cage monitoring to

SUBMITTER: Mazumder AG 

PROVIDER: S-EPMC12208490 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature