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For patients with unexplained mental and motor developmental delay, seizures, recurrent acute encephalopathy, and systemic multisystem manifestations, it is important to conduct early diagnostic investigations such as cranial MRI, EEG, plasma amino acid metabolism, urine organic acid metabolism analysis, CSF metabolism, and genetic testing to clarify the diagnosis

Ghasemi, N., S

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NF-kappaB/RelA transactivation is required for atypical protein kinase C iota-mediated cell survival
