JLE

Epileptic Disorders

MENU

Possible critical region associated with late-onset spasms in 17p13.1-p13.2 microdeletion syndrome: a report of two new cases and review of the literature Volume 24, issue 3, June 2022

Figure 1

EEG was performed using the international 10 20 electrode system, reformatted to longitudinal bipolar montage; electromyography (EMG) electrodes were attached to the deltoid muscles bilaterally. (A) At 18 months of age, interictal EEG during the awake state showed symmetrical hypsarrhythmia. (B) At 18 months of age, ictal EEG showed a paroxysmal fast wave superimposed on widespread slow waves that appeared periodically, corresponding to the movement of raising both upper limbs. EMG revealed a crescendo-decrescendo sequence with a diamond-shaped configuration associated with diffuse triphasic slow waves. LDEL: left deltoid muscle; RDEL: right deltoid muscle.

Figure 2

(A) Schematic representation of the genetic deletions in patients described in the literature. (B) Enlargement of the region that may be involved in the development of late-onset spasms, and the possible epilepsy-related genes within this region (modified from figure 5 in [1]).