Epilepsy with eyelid myoclonia (Jeavons syndrome): Generalized, focal, or combined generalized and focal epilepsy syndrome?

Epilepsy with eyelid myoclonia (EM) or Jeavons syndrome (JS) is an epileptic syndrome related to the spectrum of genetic generalized epilepsies (GGE). We report two untreated children on which EEGs were performed several hours after a generalized tonic-clonic seizure (GTCS). These showed a unilateral, nearly continuous posterior slowing. This slow-wave activity was associated with contralateral epileptiform activity in one case, while in the second case, it was associated with an ipsilateral activity. However, in the latter child, a few months later an independent focus on the contralateral side was observed. A diagnosis of focal occipital lobe epilepsy was proposed in both cases, and one child underwent a left occipital lobectomy at 3.5 years of age. Despite surgery, absences with EM persisted in this child, and a marked photosensitivity to photic stimulation was observed two years later. The focal slow wave activity of one occipital lobe several hours after a GTCS in these two subjects was in favor of a focal onset preceding the generalization. The EEG evidence for independent left and right posterior focus in these two cases, the persistence of EM, and the development of a marked photosensitivity to photic stimulation in the child who underwent an occipital lobectomy, allow us to suggest that JS is associated with a network of bi-occipital hyperexcitability that rapidly engages bilaterally to produce generalized seizures.

Can epilepsy affect normal EEG variants? A comparative study between subjects with and without epilepsy.

OBJECTIVES: To compare the prevalence of benign EEG variants (BEVs) between epileptic and non-epileptic subjects. METHODS: A prospective, observational EEG study of 1,163 consecutive patients, using the 10-20 international system with systematically two additional anterior/inferior temporal electrodes. The video-EEG monitoring duration was between 24 h and eight days. RESULTS: We identified 917 (78.9%) epileptic patients (mean age: 33.42 ± 15.5 years; females: 53.4%) and 246 (21.2%) non-epileptic patients (mean age: 35.6 ± 18.75 years; females: 54.9%). Despite a shorter mean duration of the EEG recordings, the prevalence of BEVs was higher in non-epileptic vs. epileptic patients (73.2% vs. 57.8%, p = 0.000011). This statistical difference was confirmed for lambda waves (23.6% in the non-epilepsy group vs. 14.8% in the epilepsy group, p = 0.001), POSTs (50.8% vs. 32.5%, p < 0.000001), wicket spikes (20.3% vs. 13.6%, p = 0.009) in particular in NREM and REM sleep, and 14- and 6-Hz positive bursts (13% vs. 7.1% p = 0.003). Mu rhythm was observed at the same frequency in both groups (21.1% in the non-epilepsy group vs. 22.7% in the epilepsy group). There was no difference between the two groups for rarer rhythms, such as rhythmic mid-temporal theta burst of drowsiness, small sharp spikes, and midline theta rhythm. CONCLUSIONS: There was no increase in any of the BEVs in the epilepsy group. On the contrary, BEVs were more frequent and diversified in the non-epilepsy group. Epilepsy may negatively affect the occurrence of the most common BEVs, with the exception of the mu rhythm, which is present in about one-fifth of the population with or without epilepsy.

Benign EEG variants in the sleep-wake cycle: A prospective observational study using the 10-20 system and additional electrodes.

OBJECTIVES: To study the prevalence of benign EEG variants (BEVs) in the sleep-wake cycle among 1163 consecutive patients. METHODS: Prospective, observational EEG study using the 10-20 system with systematically two additional anterior-temporal electrodes. Depending on clinical indications, other electrodes were added. REM sleep identification was based on its characteristic EEG grapho-elements and rapid eye movements, clearly detectable with the additional anterior-temporal and fronto-polar electrodes due to eye proximity. The video-EEG monitoring duration was between 24hours and eight days. RESULTS: We identified 710 patients (61%) with BEVs. Positive occipital sharp transients of sleep (POSTs) were observed in 36.4% of participants, mu rhythm in 22.4%, lambda waves in 16.7%, wicket spikes (WS) in 15%, 14- and 6-Hz positive bursts in 8.3%, benign sporadic sleep spikes (BSSS) in 3.3%, rhythmic mid-temporal theta burst of drowsiness (RMTD) in 2.15%, midline theta rhythm in 2.1% and six-Hz spike and wave (SW) bursts in 0.1%. WS and RMTD were present during wakefulness, NREM (14.1%, 1.3%, respectively) and REM sleep (3.3%, 1.1%, respectively). Mu rhythm was also observed during NREM (1.5%) and REM sleep (7.7%). Fourteen- and 6-Hz positive bursts were present during NREM (4.5%) and REM sleep (6.5%). BSSS and six-Hz SW bursts were only observed during NREM sleep. CONCLUSIONS: The prevalence of BEVs is much higher than current estimates. POSTs and WS can no longer be considered as unusual patterns but physiological patterns of NREM sleep. RMTD and mu rhythm may be observed during NREM and REM sleep.

Epilepsy with eyelid myoclonias (Jeavons syndrome): An electro-clinical study of 40 patients from childhood to adulthood.

PURPOSE: To describe the typical and atypical clinical and electroencephalographic (EEG) features of 40 patients with Jeavons syndrome (JS). METHOD: Retrospective analysis from two French tertiary centers. RESULTS: Forty patients were enrolled (31 females and 9 males; sex ratio F/M = 3.44; mean age at epilepsy onset: 6.2 ± 3.4 years [range: 1-15 years]). A positive family history of generalized genetic epilepsy was reported by 13 patients (32.5 %). Eyelid myoclonias with or without absence were the seizure onset in 29 patients (72.5 %), and generalized tonic-clonic seizures in 11 (27.5 %). Over the course of the disease, all had absences. Intellectual disability and psychiatric disorders were reported in 14 (35 %) and 18 patients (45 %), respectively. Focal EEG abnormalities were observed in 65 % of patients, with a posterior (57.7 %) or anterior (30 %) distribution. Generalized EEG discharges were identified in 37 patients (92.5 %). Epileptiform abnormalities were activated during NREM sleep and increased upon awakening. Response to intermittent light stimulation (ILS) was observed in 34 patients (85 %), with an unusual pattern of epileptiform abnormalities at the same frequency of the flashes in 20 patients. Patients with all seizure types were more likely to have this response (p = 0.017). CONCLUSION: JS is a lifelong genetic epileptic syndrome with onset in childhood, female preponderance, and a positive family history of epilepsy in one-third of the cases. Focal EEG abnormalities are frequent. Response to ILS appears different from other photosensitive syndromes, with an unusual pattern of photo-induced abnormal synchronization. Intellectual disability and psychiatric disorders are not rare.

Open-label, uncontrolled retrospective study of perampanel in adults with Lennox-Gastaut syndrome.

PURPOSE: Perampanel (PER) was added to the anticonvulsant regimen of 71 patients with Lennox-Gastaut Syndrome (LGS) to evaluate its efficacy against seizures and its tolerability. METHOD: We evaluated at 3-month intervals 62 with pure LGS and 9 with LGS-like epileptic encephalopathy (28 females, 43 males, mean age 40.1 ± 11.5 yrs, median 38, range 20-71) in whom PER was introduced by 2 mg steps at 2- to 4-week intervals up to 6 mg/day, with possible dose reduction or increases after that. The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) guidelines were followed. RESULTS: Mean PER exposure was 538.9 days ± 425 (median 429), with 44 patients (62 %) on PER at last follow-up. About 2/3 of patients were responders, including 35.2 % that had a ≥75 % decrease in their seizures. Among these 16.9 % had a ≥90 % decrease. No improvement was seen in 14 patients; 5 had a less than 50 % response, and 6 had seizure aggravation. Therefore, 25 (35.2 %) were considered non-responders. Half of the patients developed at least one side-effect. Significant negative changes in behavior were noted in 1/3 of the cases, including irritability (8.5 %) and aggressivity (7 %). Contrastingly, 4 patients reported positive behavioral and psychological well-being side-effects. CONCLUSIONS: This retrospective, open-label study provides evidence that PER may significantly help in LGS. PER should be tried in LGS patients who are not satisfactorily controlled. Its use may be limited in some patients due to behavioral side-effects occurring, particularly at doses ≥ 6 mg/d.