Epilepsy with Eyelid myoclonias - A diagnosis concealed in other genetic generalized epilepsies with photoparoxysmal response.

OBJECTIVE: Epilepsy with eyelid myoclonias(EMA) is a genetic generalized epilepsy (GGE) characterized by eyelid myoclonia, eye-closure sensitivity and photosensitivity. Data on EMA patients who specifically present with photoparoxysmal response on EEG is lacking. EMA is an under-recognized syndrome which is frequently misclassified as another GGE. The main objective of our research is to describe the occurrence of EMA versus other GGEs among patients with photoparoxysmal response and evaluate their distinguishing features. METHODS: We retrospectively identified all patients who had photoparoxysmal response on EEGs performed at Cleveland clinic between 01/01/2012 and 12/31/2019. Initial epilepsy diagnosis and clinical data were collected. EEGs were reviewed for eyelid myoclonia and eye-closure-sensitivity which were used as main diagnostic clues for EMA. If clinical criteria was met, diagnosis was revised as EMA. RESULTS: Of 249 patients with photoparoxysmal response, 70(28.1%) met EMA criteria. Sixty-two (88.6%) were females. Mean age of onset of epilepsy was 7 years (+7.9) and 120(48.2%) had other GGEs. Fifty-four (77.1%) patients with EMA were initially classified as another epilepsy. Initial diagnosis included CAE or JME in 40(57.1%) patients with EMA so we compared EMA with these syndromes. Female preponderance, drug refractoriness, older age of onset and generalized myoclonia were more common in EMA than CAE. Earlier age of onset, absence seizures, and lack of generalized myoclonic jerks were more common EMA than JME. SIGNIFICANCE: Our study demonstrates that EMA is under-recognized among GGE patients with photoparoxysmal response. It highlights distinguishing clinical and electrographic features which separate EMA from other GGEs. It emphasizes the diverse treatments utilized and the need for therapeutic options for patients with refractory EMA.

Exacerbation of eyelid myoclonia in patients with epilepsy and eyelid myoclonia receiving cannabidiol.

Epilepsy with eyelid myoclonia or Jeavons Syndrome (JS) is a childhood genetic generalized epilepsy. Its clinical features include eyelid myoclonia (hallmark) with or without brief absences, eyelid closure-induced seizures and/or electroencephalographic (EEG) paroxysms (generalized polyspikes and/or generalized spike-wave activity at 3-6 Hz, elicited by closure of eyelid) and photosensitivity. Broad-spectrum anti-seizure medications are often utilized for the management of JS patients. A wide variety of medications may be utilized especially in refractory cases. Efficacy or safety of cannabidiol (CBD) for JS has not been studied. We describe two cases of exacerbation of eyelid myoclonia in JS which correlated with CBD use and resolved after CBD discontinuation. These cases highlight that caution should be practiced when using CBD for JS as it can potentially worsen eyelid myoclonia.

Surgical candidates in children with epileptic spasms can be selected without invasive monitoring: A report of 70 cases.

OBJECTIVE: Prior surgical series in children with drug-resistant epileptic spasms have reported use of intracranial EEG monitoring in up to two-third of patients. We report outcome after epilepsy surgery for drug-resistant epileptic spasms in a cohort of children without the use of intracranial EEG monitoring in any of the patients. METHODS: Medical records of all consecutive children aged 5 years or under who had epilepsy surgery for epileptic spasms at Cleveland Clinic between 2000 and 2018 were reviewed. Post-operative seizure outcome and predictors of prognosis of seizure outcome were analyzed. RESULTS: Seventy children with active epileptic spasms underwent surgical resections during the study period. Mean age at seizure onset was 6.8 (+9.31) months and median age at surgery was 18.5 months. An epileptogenic lesion was identified on brain MRI in all patients; 17 (24%) had bilateral abnormalities. Etiologies included malformations of cortical development (58%), perinatal infarct/encephalomalacia (39%), and tumor (3%). None of the patients had intracranial EEG. Surgical procedures included hemispherectomy (44%), lobectomy/ lesionectomy (33%), and multilobar resections (23%). Twelve children needed repeat surgery; six (50%) became seizure free after the second surgery. At six months follow-up, 73% (51/70) were seizure-free since surgery. At a mean follow-up of 4.7 years, 60% (42/70) had Engel 1 outcome. In those with seizure recurrence, 17 (60%) reported improvement. Shorter epilepsy duration (p = 0.05) and lobar or sub-lobar epileptogenic lesions (p = 0.02) predicted favorable seizure outcome at 6 months after surgery. For long term outcome, patients with bilateral abnormalities on MRI (p = 0.001), and multilobar extent on MRI (p = 0.02) were at higher risk for recurrence. SIGNIFICANCE: Children with drug-resistant epileptic spasms secondary to an epileptogenic lesion detected on MRI could be selected for epilepsy surgery without undergoing intracranial EEG monitoring. A surgical selection paradigm without intracranial monitoring may allow early surgery without the risks of invasive monitoring.

Investigation of networks underlying hyperkinetic seizures utilizing ictal SPECT.

OBJECTIVE: To study neural networks involved in hyperkinetic seizures (HKS) using ictal SPECT. METHODS: We retrospectively identified 18 patients with HKS evaluated at the Cleveland Clinic between 2005 and 2015 with video-EEG monitoring and ictal SPECT. Semiology was confirmed by the consensus of 2 epileptologists' independent reviews and classified as type 1, 2, or 3 HKS. SPECT data were analyzed by 2 independent physicians using a z score of 1.5. Ictal hyperperfusion patterns for each group were analyzed visually and with SPM. Spatial normalization to Montreal Neurological Institute space for each patient's data was performed, followed by flipping of data from patients with left-sided ictal onset to the right side. Finally, an average z score map for each group was calculated. RESULTS: Visual analysis and SPM identified different patterns of ictal hyperperfusion in the 3 subtypes of HKS. Type 1 seizures showed hyperperfusion in a more anteriorly located network involving the anterior insula, orbitofrontal cortex, cingulate, and anterior perisylvian region and rostral midbrain. Type 2 seizures were associated with hyperperfusion in a more caudally located network involving the orbitofrontal cortex, cingulate (middle and posterior), basal ganglia, thalami, and cerebellum. Type 3 seizures showed a mixed pattern of SPECT hyperperfusion involving the temporal pole and anterior perisylvian region. CONCLUSIONS: Each of the 3 different semiologic subtypes of HKS is associated with distinct patterns of hyperperfusion, providing further insight into the neural networks involved. This knowledge may inform placement of invasive EEG electrodes in patients with HKS semiology undergoing presurgical evaluation.

Patient management conference: Correlating pre-surgical data.

The epilepsy surgery patient management conference is a fundamental part of the presurgical evaluation. This article reviews the literature and describes a single center's approach. Case examples highlight how patient management conferences may influence clinical care.

Perampanel-induced hair curling in a patient with epilepsy associated with Pitt Hopkins syndrome.

Antiepileptic drug side effects are frequent, 42% of them corresponding to cosmetic changes. The most frequent effects are weight gain, gingival hyperplasia, and hair loss. Hair changes in texture or colour are rarely reported in the literature. We present a case of hair curling after the introduction of perampanel. A 13-year-old girl with genetically confirmed Pitt-Hopkins syndrome with uncontrolled seizures, while on treatment with levetiracetam and valproic acid, was started on perampanel, reaching seizure control. After a few weeks of the introduction of the new antiepileptic drug, she developed hair curling. Hair curling is a rare cosmetic side effect, reported mainly in patients under valproic acid treatment. Perampanel is a recently introduced pharmaceutical molecule with no prior reports of hair changes as a side effect. There is no clear explanation for this side effect, but it should be discussed with patients taking valproate whenever perampanel is added to the treatment.

Don't Just Stand There: Do Something! The Case for Peri-Ictal Intervention.

Hypoxemia Following Generalized Convulsive Seizures: Risk Factors and Effect of Oxygen Therapy Rheims S, Alvarez BM, Alexandre V, Curot J, Maillard L, Bartolomei F, et al; the REPO2MSE Study Group. Hypoxemia following generalized convulsive seizures: risk factors and effect of oxygen therapy . Neurology. 2019;92(3):e183-e193 Objective: To analyze the factors that determine the occurrence or severity of postictal hypoxemia in the immediate aftermath of a generalized convulsive seizure (GCS). METHODS: We reviewed the video-electroencephalogram (EEG) recordings of 1006 patients with drug-resistant focal epilepsy included in the REPO2MSE study to identify those with ≥1 GCS and pulse oximetry (SpO2) measurement. Factors determining recovery of SpO2 ≥90% were investigated using Cox proportional hazards models. Association between SpO2 nadir and person- or seizure-specific variables was analyzed after correction for individual effects and the varying number of seizures. RESULTS: A total of 107 GCS in 73 patients were analyzed. A transient hypoxemia was observed in 92 (86%) GCS. Rate of GCS with SpO2 <70% dropped from 40% to 21% when oxygen was administered early ( P = .046). Early recovery of SpO2 ≥90% was associated with early administration of oxygen ( P = .004), absence of postictal generalized EEG suppression (PGES; P = .014), and extratemporal lobe epilepsy ( P = .001). Lack of early administration of O2 ( P = .003), occurrence of PGES ( P = .018), and occurrence of ictal hypoxemia during the focal phase ( P = .022) were associated with lower SpO2 nadir. CONCLUSION: Postictal hypoxemia was observed in the immediate aftermath of nearly all GCS, but administration of oxygen had a strong preventive effect. Severity of postictal hypoxemia was greater in temporal lobe epilepsy and when hypoxemia was already observed before the onset of secondary GCS.

Ictal biting injuries in the epilepsy monitoring unit, a cohort study of incidence and semiological significance.

PURPOSE: Oral biting injuries are widely recognized complications of seizures. Value in differentiating epileptic vs paroxysmal non-epileptic seizures is well demonstrated, but frequency and semiological value are poorly described. We aimed to evaluate frequency in an epilepsy monitoring unit setting as well as semiological value. MATERIAL AND METHODS: Systematic evaluation of ictal oral injuries was provided by the nursing staff on the Epilepsy Monitoring Unit. Cases were identified by chart review. Demographic, diagnostic and seizure-related data were collected from medical records and video-EEG recording, and correlated with location of tongue laceration. Lateralized oral lacerations while recumbent were further analyzed to eliminate contribution of body position. RESULTS: 89 events were reported in 52 individuals (5.6% of all admissions or 8.3% of patients with epileptic seizures). Lacerations occurred in 88 epileptic seizures (80 generalized, three focal, five undetermined) and one non-epileptic seizure. 87/88 had a tonic component and 86/88 had a clonic component. Lateralized tongue laceration occurred in 30 patients. This correlated with body position during the event but not with handedness or seizure characteristics. CONCLUSIONS: Oral biting is a common complication in the epilepsy monitoring unit. Its presence suggests a tonic or clonic component but is of no help in localizing seizure onset.

Lateralizing and localizing value of seizure semiology: Comparison with scalp EEG, MRI and PET in patients successfully treated with resective epilepsy surgery.

PURPOSE: To evaluate the lateralizing and localizing value of seizure semiology in patients who became completely seizure free after resective epilepsy surgery. METHODS: We analyzed seizures of patients who were seizure free after focal resection limited to the temporal lobe (30 patients), frontal lobe (27 patients), parietal lobe (8 patients) and occipital lobe (8 patients). Three investigators independently analyzed video segments of seizures blinded to clinical information and attempted to lateralize and localize the seizure focus, based on pre-defined criteria. Inter-observer agreement measured and positive predictive value were calculated and compared with scalp interictal, ictal EEG, MRI and PET. RESULTS: Seizure semiology correctly lateralized 19/30 (63%) temporal lobe epilepsy patients (kappa = 0.64); lobar localization was correct in 27/30 patients (90%) (Kappa = 0.6). Twenty of 27 (74%) frontal lobe patients were correctly lateralized (kappa = 0.55) and localized (Kappa = 0.41). Seven of 8 (87%) of parietal lobe patients were correctly lateralized (kappa = 0.83) and lobar localization was correct in 3/8 patients (37%) (Kappa = 0.5). Seven of 8 (87%) occipital lobe patients were correctly lateralized (kappa = 0.67) and lobar localization was correct in 7/8 patients (87%) (Kappa = 0.67). Collectively, seizure semiology was correctly lateralizing in 74% and correctly localizing in 77% of patients. Lateralization in secondarily generalized seizures was significantly higher compared to seizures that did not generalize (p = 0.0001). In non-lesional patients, lateralization was correct in 81% while localization was correct in 88% of patients. CONCLUSION: Seizure semiology has high lateralizing and localizing value, on par with interictal/ictal scalp EEG and MRI.

Magnetoencephalographic Recordings in Infants Using a Standard-Sized Array: Technical Adequacy and Diagnostic Yield.

PURPOSE: Although a few magnetoencephalography (MEG) systems have been built specifically for infants (<2 years), most children are routinely examined using MEG systems designed primarily to accommodate adult subjects. The practicality of the adult MEG device has not been systematically reviewed in infants with epilepsy. The aim of this study is to investigate whether infant epilepsy patients, whose heads are small relative to the sensor helmet, can have clinically successful MEG recordings using the conventional adult-size MEG device. METHODS: We reviewed our database of 964 patients who were referred for routine MEG epilepsy examination between January 2008 and May 2015. We reanalyzed the original data of the infant patients to investigate whether epileptiform discharges of the usual amplitudes could be detected. RESULTS: Nine patients (about 1%) were infants. All the infant MEG records were processed with temporally extended signal space separation to remove environmental artifacts. Seven of the nine were processed with movement compensation processing using continuous head position monitoring. Magnetoencephalography captured epileptic abnormalities in all the infants: interictal in nine and ictal in five. The source amplitudes of 10 representative interictal dipoles from each of the infants ranged from 46.0 to 437.2 (mean: 180.1, SD: ±92.5) nA-m. CONCLUSIONS: Despite increased brain to sensor distance, the conventional MEG device can detect epileptic abnormalities in infants, facilitated by monitoring head position and postprocessing with temporally extended signal space separation, with or without movement compensation. Magnetoencephalography is useful for managing infants with epilepsy using the conventional adult machine, without special adaptations for small heads.

Semiology of hypermotor (hyperkinetic) seizures.

BACKGROUND: Hypermotor seizures (HMSs) consist of complex movements involving proximal segments of the limbs and trunk that appear violent and inappropriate for the situation. METHODS: We analyzed hypermotor seizure videos in seizure-free patients (Engel class I) following resective epilepsy surgery. After completion of video analysis, we reviewed EEG and neuroimaging data. RESULTS: Search of our epilepsy surgery database yielded 116 patients classified as having hypermotor seizures between 1996 and 2013. From this subset, 17/31 (55%) patients had been seizure-free for >6months (mean follow-up: 3.3years). Mean seizure duration was 35s (range: 6-91s), of which the HM phase lasted a mean of 22s (range: 3-53s). In 16 patients (95%), hypermotor activity was seen at or within 10s of clinical seizure onset. Type I semiology occurred in 6 patients, type II semiology in 10 patients, and 1 patient exhibited features of both. Type I and type II semiologies were noted in patients who had frontal lobe as well as extrafrontal resections. Nonversive head and body turning occurred in 10 patients (ranging from 90° to 270°) which was ipsilateral to the side of resection in all patients and seen both in frontal and extrafrontal resections. Six out of eleven patients with abnormal MRI and 4/6 patients with nonlesional MRI underwent invasive EEG evaluation. Eight patients (47%) had frontal lobe resection, 4/17 (23%) patients had temporal lobe resection, and one patient each had parietal lobe, insular, temporoparietooccipital, or motor sparing resection; 1 patient had functional hemispherectomy. CONCLUSION: Hypermotor semiology typically occurs at or within 10s after seizure onset. Ipsilateral head/body turning appears to be of lateralizing value whereas asymmetry of limb movement was not lateralizing. Hypermotor semiology is most often seen in frontal lobe epilepsy but may occur in seizures arising from other locations.