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The mutation in the MFSD8 (also known as CLN7 ) gene resulted in a truncated, and dysfunctional protein, and treatment with Milasen was able to effectively rescue seizure phenotypes and to increase neurological scores, temporarily improving quality of life of the patient [104]

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The resultant complementary DNAs were eluted by mixing with 1 PCR reaction buffer and heating at 95 C for 5 min, followed by immediate separation of the supernatant from the beads

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However, dose frequency significantly affects outcomes