[…] early interictal EEG XD SLC25A22 Cerebellar hypoplasia, CC malformation AR STXBP1 AD 6% SPTAN1 Cerebral atrophy, hypomyelination AD KCNQ2 Early (resolving) thalamic/BG hyperintensities
[rch.org.au]
Diagnosis Brain imaging is expected to be normal. EEG, ictal and interictal, show focal epileptic discharges in different areas.
[doctorstrizhak.com]
[…] myoclonus, photosensitivity AR GLYCTK D-glyceric acidaemia, glycine encephalopathy AR ARX Allelic with XLAG, dyskinesia, BG hyperintensities X 7% CDKL5 Atypical Rett syndrome, normal
[rch.org.au]