JLE

Epileptic Disorders

MENU

Pharmacoresistant epileptic eyelid twitching in a child with a mutation in SYNGAP1 Volume 19, issue 3, September 2017

Figure 1

Ictal and interictal EEG. (A) Interictal EEG during sleep at 1 year and 7 months of age revealed bilateral frontal spikes. (B) Ictal EEG during photic stimulation at a frequency of 20 Hz at 2 years and 3 months of age revealed diffuse spike-and-wave activity, simultaneous with motion arrest, unresponsiveness, upward eye deviation, and intermittent eyelid twitching lasting for several seconds. (C) EEG during sleep at 2 years and 3 months of age revealed rhythmic generalized 2-3-Hz delta activity without visible seizures. (D) Interictal EEG at 1 year and 9 months of age during wakefulness showed normal background activity.

Figure 2

Clinical course. Seizures presenting as eyelid twitching were initially noticed at 1 year and 5 months of age. Seizures were refractory to carbamazepine (CBZ) and levetiracetam (LEV). At 2 years of age, seizure frequency increased when the dosage of valproate (VPA) was decreased, but at 4 years of age, the frequency did not change even when discontinued. At 2 years of age, frequent seizure episodes were reduced by ethosuximide (ESM). Seizures were aggravated after decreasing the ESM dosage at 3 years of age, but were alleviated by an increased dosage of lamotrigine (LTG) and ESM.

Figure 3

Results of SYNGAP1 gene analysis. A heterozygous mutation, c.3583-6 G>A, was identified.