Articles with "n110d knock" as a keyword



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Heterozygous GABAA receptor β3 subunit N110D knock‐in mice have epileptic spasms

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Published in 2022 at "Epilepsia"

DOI: 10.1111/epi.17470

Abstract: Infantile spasms is an epileptic encephalopathy of childhood, and its pathophysiology is largely unknown. We generated a heterozygous knock‐in mouse with the human infantile spasms‐associated de novo mutation GABRB3 (c.A328G, p.N110D) to investigate its molecular… read more here.

Keywords: receptor subunit; gabaa receptor; knock; infantile spasms ... See more keywords