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Identification of an individual exhibiting epileptic encephalopathy and brain pathologies
(A) Affected individual 2163660 containing a homozygous c.1549C>T (NM_001009996.3) variant in DALRD3.
(B) EEG trace; Laplacian montage with eyes closed and opened.
(C) MRI of the affected individual; sagittal T1 Magnetization Prepared Rapid Gradient Echo imaging.
(D) MRI of the affected individual; transversal T2 Turbo Spin Echo imaging.
