Article
Knockout of sodium pump α3 subunit gene (Atp1a3-/-) results in perinatal seizure and defective respiratory rhythm generation.
Brain research - 1 Jul 2017
Ikeda Keiko, Onimaru Hiroshi, Kawakami Kiyoshi
Abstract excerpt
ATP1A3 encodes a neuron-specific human α3 subunit isoform of the sodium pump that plays an important role in neuronal excitability. Point and deletion mutations in ATP1A3 have been recognized in diverse neurological disorders. Three ATP1A3 disorders, alternating hemiplegia of childhood (AHC); apnea; and severe infantile epileptic encephalopathy often appear shortly after birth. To gain insight into the...
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