https://www.selleckchem.com/pr....oducts/avacopan-ccx1
Interictal EEG showed generalized spike-and-wave complexes, predominantly in the left frontal area. Brain MRI was unremarkable. Exome sequencing revealed novel de novo mutations in DYNC1H1 c.4691AT, p.(Glu1564Val) in Patient 1 and c.12536TC, p.(Leu4179Ser) in Patient 2. DYNC1H1 comprises a stem, stalk, and six AAA domains. Patient 2 is the second report of an AAA6 domain mutation without malformations of cortical development. The p.(Gly4072Ser) mutation in the AAA6 domain was also reported in a patient with ASD. It may
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