case_images: PMC11135126_01
case_images: T1-weighted sagittal (A-D), T2-weighted sagittal (E-H), T1-weighted axial (I, J), T2-weighted axial (K, L) magnetic resonance imaging: showing abnormal changes bilaterally in the temporo-parietal occipital gyri and sulci, pachygyria and lissencephaly.
case_images: fped-12-1367305-g001.jpg
case_images: PMC11135126_01_fped-12-1367305-g001.jpg
case_images: F1
case_images: At the age of 5 months, brain MRI and diffusion-weighted imaging (Figure 1) showed normal cortex formation in the bilateral frontal lobes, wide temporal, parietal and occipital gyri, and shallow sulci. At the age of 5 months, the results of 6-h video electroencephalography (EEG) revealed severe abnormalities (Supplementary Figure S1): background activity was abnormal, and most of the waking periods were highly arrhythmic.
case_images: A missense mutation in the TUBA1A gene was detected in the patient. C. 1204C >T (C to T at nucleotide 1,204 of the coding region) is a heterozygous nucleotide variation resulting in p.Arg402Cys (Ary to Cys at amino acid 402). No such mutation (arrow) was found in the TUBA1A gene of his parents.
case_images: fped-12-1367305-g002.jpg
case_images: PMC11135126_02_fped-12-1367305-g002.jpg
case_images: F2
case_images: PMC11135126_02
case_images: A missense mutation in the TUBA1A gene was detected in the patient. C. 1204C >T (C to T at nucleotide 1,204 of the coding region) is a heterozygous nucleotide variation resulting in p.Arg402Cys (Ary to Cys at amino acid 402). No such mutation (arrow) was found in the TUBA1A gene of his parents.
case_images: fped-12-1367305-g002.jpg
case_images: PMC11135126_02_fped-12-1367305-g002.jpg
case_images: F2