JLE

Epileptic Disorders

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ATP6V1B2-related epileptic encephalopathy Volume 22, issue 3, June 2020

Figure 1

(A, B) Front and profile facial features; (C) gingival hyperplasia; (D) onychodystrophy of the toes; and (E) hypertrichosis.

Figure 2

Video-EEG of the patient at 22 months of age showing disorganized background activity (excessive theta and delta waves) during wakefulness.

Figure 3

Video-EEG of the patient at 22 months of age showing epileptiform discharges characterized by bilateral anterior multispikes.

Figure 4

Video-EEG at 22 months of age showing a tonic seizure with suppression of background activity, followed by rhythmic delta activity over the bilateral anterior regions mixed with sharp waves.