PMC10167015_01
Brain MRI and EEG of the individual with DYNC1H1 variant p.Arg292Trp. (A) Interictal EEG showed multifocal spike-wave complexes at 2 years old. (B) EEG at spasm onset (2 years old) revealed brief, high gamma oscillations combined with slow delta waves (red arrow). (C) (Axial plane, T1 flair), (D) (Axial plane, T1 flair), (E) (Sagittal plane, T1 flair), (F) (Sagittal plane, T1 flair) and (G) (Sagittal plane, midline, T1 flair). MRI performed at 4 years old and revealed posterior predominant pachygyria (red arrow).
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F1
A ketogenic diet and vagus nerve stimulation were ineffective at treating the condition, and spasms began when the child was 2 years-of-age (Figures 1A, B). Brain magnetic resonance imaging (MRI) revealed small, broad, and flat gyri in the bilateral multiple lobes, indicating pachygyria (Figures 1C-F). Figure S1). Function- and stability-change predictions were performed as previously described.
Function and stability prediction of variants. (A) Prediction of p.Arg292Trp function. (B) Prediction of variant stability.
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F2
The results showed that this variant caused significant damage to the encoded protein (Figure 2).