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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,… Click to show full 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 mechanisms and to establish the Gabrb3+/N110D knock‐in mouse as a model of infantile spasms syndrome.
Keywords:
receptor subunit;
gabaa receptor;
knock;
infantile spasms;
n110d knock;
heterozygous gabaa
Journal Title: Epilepsia
Year Published: 2022
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Journal Title: Epilepsia
Year Published: 2022
Link to full text (if available)
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recommendations!