Article

Impaired excitability of fast-spiking neurons in a novel mouse model of <i>KCNC1</i> epileptic encephalopathy

2024-09-27

Abstract excerpt

The recurrent pathogenic variant KCNC1 -p.Ala421Val (A421V) is a cause of developmental and epileptic encephalopathy characterized by moderate-to-severe developmental delay/intellectual disability, and infantile-onset treatment-resistant epilepsy with multiple seizure types including myoclonic seizures. Yet, the mechanistic basis of this disease, and of the KCNC1 disease spectrum, is unclear. KCNC1 encodes Kv3....

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Literature Corpus work: 3e687946-ad32-5d87-a6b6-72c361a58de9
DOI: 10.1101/2024.09.27.615463

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