Epileptic Disorders最新文献

Objective: This retrospective study aimed to assess the efficacy and tolerability of sulthiame as an add-on treatment in children with pharmacoresistant epilepsies.

Methods: All patients with epilepsy who received sulthiame at Montreal Children's Hospital over an 11-year period were included. Medical charts were reviewed, and extracted data included patient age and sex, seizure types, epilepsy syndrome, electroencephalography (EEG) reports, brain imaging reports, antiseizure treatments trialed, starting and final dose of sulthiame, duration of sulthiame treatment, adverse events attributed to sulthiame, and seizure frequency before and after sulthiame treatment. EEG studies were also analyzed and spike-wave index (SWI) in the first 10 min of sleep was calculated.

Results: Sixteen patients were included, all of whom had pharmacoresistant epilepsies (mean of 9.9 trials of other antiseizure treatments). Six had genetic diagnoses, four had in utero/perinatal acquired brain injury, one had a suspected focal cortical dysplasia, and five were idiopathic. Ten patients had developmental and epileptic encephalopathy with spike-wave activation in sleep, three had Lennox-Gastaut syndrome, and one each had sleep-related hyperkinetic epilepsy, self-limited epilepsy with centrotemporal spikes, and mixed generalized and multifocal epilepsy. Of the 12 patients with uncontrolled seizures at the time of sulthiame initiation, 4 had improvement in seizure frequency, including 2 who became seizure free. Eight patients had EEG data available that allowed calculation of sleep SWI; from this group, SWI decreased from 81.1% +/- 17.6% to 45.1% +/- 36.5% (p = .007). The most common adverse events reported were somnolence/drowsiness, aggression, and increased seizure frequency. Of the patients with genetic etiologies, significant positive responses were seen in patients with pathogenic variants in NDUFS1 and SATB1.

Significance: These data demonstrate the therapeutic potential of sulthiame, even in patients with highly pharmacoresistant epilepsy. Improvements may be seen in both seizure frequency and sleep SWI.

With the discovery of an expanding number of neural autoantibodies, autoimmune etiologies of seizures have been increasingly recognized. Clinical phenotypes have been identified in association with specific underlying antibodies, allowing an earlier diagnosis. These phenotypes include faciobrachial dystonic seizures with LGI1 encephalitis, neuropsychiatric presentations associated with movement disorders and seizures in NMDA-receptor encephalitis, and chronic temporal lobe epilepsy in GAD65 neurologic autoimmunity. Prompt recognition of these disorders is important, as some of them are highly responsive to immunotherapy. The response to immunotherapy is highest in patients with encephalitis secondary to antibodies targeting cell surface synaptic antigens. However, the response is less effective in conditions involving antibodies binding intracellular antigens or in Rasmussen syndrome, which are predominantly mediated by cytotoxic T-cell processes that are associated with irreversible cellular destruction. Autoimmune encephalitides also may have a paraneoplastic etiology, further emphasizing the importance of recognizing these disorders. Finally, autoimmune processes and responses to novel immunotherapies have been reported in new-onset refractory status epilepticus (NORSE) and febrile infection-related epilepsy syndrome (FIRES), warranting their inclusion in any current review of autoimmune-associated seizure disorders.

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Objective: Hypothalamic hamartomas are congenital lesions that typically present with gelastic seizures, refractory epilepsy, neurodevelopmental delay, and severe cognitive impairment. Surgical procedures have been reported to be effective in removing the hamartomas, however, they are associated with significant morbidity. Therefore, it is not considered a safe therapeutic modality. Image-guided robotic radiosurgery (CyberKnife® Radiosurgery System) has been shown to provide good outcomes without lasting complications.

Methods: This series of cases describes the clinical, radiological, radiotherapeutic, and postsurgical outcomes of five patients with epileptic encephalopathies secondary to hypothalamic hamartomas who were treated with CyberKnife®.

Results: All patients exhibited refractory epilepsy with gelastic seizures and were unsuitable candidates for surgical resection The prescribed dose ranged between 16 and 25 Gy, delivered in a single fraction for four patients and five fractions for one patient while adhering strictly to visual pathway constraints. After radiosurgery, four patients maintained seizure control (one with an Engel class Ia, three with an Engel class 1d), and another presented sporadic, nondisabling gelastic seizures (with an Engel class IIa). After 24-26 months of follow-up, in three patients, their intelligence quotient scores increased. No complications were reported.

Significance: This report suggests that Cyberknife may be a good option for treating hypothalamic hamartoma, particularly in cases where other noninvasive alternatives are unavailable. Nevertheless, additional studies are essential in order to evaluate the effectiveness of the technique in these cases.

Implantation effect is the phenomenon of a transient decrease in clinical seizure frequency following the placement of intracranial electrodes or neuromodulatory devices.¹ This effect has been demonstrated in different procedures such as stereo-EEG, deep brain stimulation, and subdural strips or grids.^2-4 This effect is typically thought to last for no longer than a few months.^{5, 6} Recently, Responsive Neurostimulation (RNS) system (NeuroPace, Inc.) electrode placement has also demonstrated similar transient improvement in clinical seizure frequency.³ Electrocorticographic (ECoG) spectral power changes and reduction in spike rates have also been described for up to 5 months of chronic ECoG in RNS patients.⁷ However, RNS stimulation is routinely turned on within a few weeks of implantation.^{3, 7} Therefore, the degree to which RNS implantation versus stimulation leads to long-term clinical and electrophysiologic changes beyond the initial post-implant period is unclear.

To our knowledge, no previous studies have investigated the impact of RNS implantation on long episodes and electrographic seizures in patients not receiving RNS stimulation. Long episodes refer to any pattern that meets the RNS detection threshold but without evolution, whereas electrographic seizures constitute a pattern with distinct evolution. Here, we describe a patient who underwent bilateral RNS implantation and remained free of clinical seizures for at least 2 years and 1 month and free of long episodes and electrographic seizures for 14 months with no RNS stimulation during the initial 8-month period. Informed consent was obtained.

A 19-year-old woman with a longstanding history of drug-resistant focal epilepsy with focal seizures with impaired awareness, with and without secondary generalization underwent presurgical evaluation. At baseline, she had five to nine seizures per month. The longest seizure-free period prior to RNS was a few months. Stereo-EEG confirmed independent seizures arising from (Figure 1) bilateral hippocampi (Table 1). She underwent RNS implantation with bilateral hippocampal leads, after which she remained seizure-free. Given her lack of clinical and electrographic seizures, long episodes, or other epileptiform activity on ECoG, RNS stimulation was not turned on for 8 months post-implantation. At 8 months, RNS stimulation was ultimately turned on at the suggestion of the NeuroPace team despite the continued lack of clinical or electrographic events. After self-weaning anti-seizure medications (ASMs), she started to have rare long episodes and electrographic seizures at 14 months. These resolved after increasing her ASMs back to their original doses. She continues to remain completely free of clinical seizures at 2 years and 1 month post-implantation.

Our case demonstrates the extended impac

In epilepsy patients with tumors involving the cortex with language representations, a comprehensive interdisciplinary workup is required to protect language function during surgical resection.¹

We report the presurgical evaluation of a patient with focal epilepsy due to a progressive tumor in the language area of the left temporal lobe. After non-invasive presurgical diagnostics, we performed an invasive subdural electroencephalogram (iEEG) with extraoperative electrical stimulation mapping (ESM) prior to tumor surgery.²

A 22-year-old female university student with left-sided temporal lobe epilepsy was referred for invasive video-EEG monitoring and language mapping to guide resective tumor surgery. Her epilepsy began at the age of 20 years, and it was characterized by focal aware seizures with speech arrest, occasionally followed by focal impaired awareness seizures. Under monotherapy with Levetiracetam up to 4 g/day, she had two to three focal aware seizures/day, despite which she was able to finish her university studies. High-resolution 3T structural magnetic resonance imaging (s-MRI) showed a slowly progressive, partially contrast-enhancing low-grade neuroglial tumor located at the left posterior superior temporal gyrus (Figure 1, Panels A and B) and the basal insula. A functional language MRI (l-fMRI) confirmed left-hemispheric language dominance with activations directly adjacent to the tumor (Figure 1, Panel C). Presurgical neuropsychological assessment (NPS) revealed discrete word-finding difficulties, partly reduced verbal fluency and impaired verbal short-term and working memory performance. The right-handed patient had a normal physical examination. Written informed consent was obtained for the scientific publication of the patient's clinical data.

Invasive video-EEG monitoring for 4 days with a 32-contact subdural grid implanted over the left temporal lobe was performed (Figure 1, Panel D). The ESM language cortical mapping with 50 Hz (biphasic pulses, duration 250 μs, bipolar stimulation up to 15 mA, referential stimulation up to 18 mA) comprised six different language tasks as described in detail before.³ Language representations were identified in contacts B2-3, B6, C5-C8, and D7 (Figure 1, Panel D). The language representation around contacts A3-4 and B4-5 could not be assessed due to unavoidable afterdischarges despite the additional use of lorazepam. In summary, the ESM showed a clear overlap of language representation and tumor in the left superior temporal gyrus. The irritative zone and the seizure onset zone overlapped with language representations (Figure 1, Panel D).

Due to the tumor's location, only the contrast-enhancing solid component and the cyst membrane could be resected via a transsylvian approach to minimize the risk of postoperative language deficits. No need for awake surgery with additional intraoperative language

Pathogenic variants in CACNA1E are associated with early-onset epileptic and developmental encephalopathy (DEE). Severe to profound global developmental delay, early-onset refractory seizures, severe hypotonia, and macrocephaly are the main clinical features. Patients harboring the recurrent CACNA1E variant p.(Gly352Arg) typically present with the combination of early-onset DEE, dystonia/dyskinesia, and contractures. We describe a 2-year-and-11-month-old girl carrying the p.(Gly352Arg) CACNA1E variant. She has a severe DEE with very frequent drug-resistant seizures, profound hypotonia, and episodes of dystonia and dyskinesia. Long-term video-EEG-monitoring documented subsequent tonic asymmetric seizures during wakefulness and mild paroxysmal dyskinesias of the trunk out of sleep which were thought to be a movement disorder and instead turned out to be focal hyperkinetic seizures. This is the first documented description of the EEG findings in this disorder. Our report highlights a possible overlap between cortical and subcortical phenomena in CACNA1E-DEE. We also underline how a careful electro-clinical evaluation might be necessary for a correct discernment between the two disorders, playing a fundamental role in the clinical assessment and proper management of children with CACNA1E-DEE.