Evaluating salvage electroconvulsive therapy for the treatment of prolonged super refractory status epilepticus: A case series.

BACKGROUND AND OBJECTIVES: Clinicians have treated super refractory status epilepticus (SRSE) with electroconvulsive therapy (ECT); however, data supporting the practice are scant and lack rigorous evaluation of continuous electroencephalogram (cEEG) changes related to therapy. This study aims to describe a series of patients with SRSE treated at our institution with ECT and characterize cEEG changes using a blinded review process. METHODS: We performed a single-center retrospective study of consecutive patients admitted for SRSE and treated with ECT from January 2014 to December 2022. Our primary outcome was the resolution of SRSE. Secondary outcomes included changes in ictal-interictal EEG patterns, anesthetic burden, treatment-associated adverse events, and changes in clinical examination. cEEG was reviewed pre- and post-ECT by blinded epileptologists. RESULTS: Ten patients underwent treatment with ECT across 11 admissions (8 female, median age 57 years). At the time of ECT initiation, nine patients had ongoing SRSE while two had highly ictal patterns and persistent encephalopathy following anesthetic wean, consistent with late-stage SRSE. Super-refractory status epilepticus resolution occurred with a median time to cessation of 4 days (interquartile range [IQR]: 3-9 days) following ECT initiation. Background continuity improved in five patients and periodic discharge frequency decreased in six. There was a decrease in anesthetic use following the completion of ECT and an improvement in neurological exams. There were no associated adverse events. DISCUSSION: In our cohort, ECT was associated with improvement of ictal-interictal patterns on EEG, and resolution of SRSE, and was not associated with serious adverse events. Further controlled studies are needed.

Long-term video-EEG monitoring and interictal epileptiform abnormalities.

In the appropriate clinical setting, the presence of interictal epileptiform abnormalities (IEAs) on EEG supports the diagnosis of epilepsy. However, the absence of epileptiform abnormalities on EEG cannot exclude a diagnosis of epilepsy. The goal of our study is to determine the prevalence of IEAs in patients with confirmed epilepsy, determined by having at least one epileptic seizure recorded during video-EEG monitoring. In addition, we aimed to analyze the time to recording IEAs and seizures in correlation with patient age, duration of epilepsy, and seizure focus localization. We retrospectively evaluate EEG data for all patients admitted to the epilepsy monitoring unit over a 2-year period. Of the 151 patients included, 129 (86%) patients had IEAs and 22 (14%) patients had no IEAs. Age and duration of epilepsy were not independent predictors of whether IEAs were present on EEG. The duration of EEG monitoring and time to first seizure did not influence IEA detection. In patients with IEAs, the mean time to the first IEA was 1.57 days. By day 5, IEAs were observed in 95% of the patients who had IEAs present on EEG (82% of total patients). The majority (75%) of patients also had their first seizure by day 5. We concluded that five days of EEG recording is optimal to detect IEAs and seizures, and that more prolonged recording has a low yield. Failure to detect IEAs should be interpreted with caution, and is not useful for diagnostic purposes.

Neuromotor synapses in Escobar syndrome.

The Escobar variant of multiple pterygium syndrome (OMIM #265000) is a rare, autosomal recessive disorder associated with mutations in the γ-subunit of the nicotinic acetylcholine receptor (CHRNG). CHRNG is expressed in fetal muscle during motor development and contributes to the formation of neuromuscular junctions (NMJs). Anomalies in NMJ structure and function have not been investigated in patients with Escobar syndrome. We report five patients identified as having Escobar syndrome, from four families. In three families, the same mutation (c.459dupA) was identified in CHRNG. A biopsy from brachioradialis muscle was collected from a patient from one of these families and analyzed for NMJ organization using fluorescence microscopy. Compared to spinalis muscle from control patients with idiopathic scoliosis or cerebral palsy (CP), the patient with Escobar syndrome had a significantly higher degree of acetylcholine receptor present outside acetylcholinesterase and significantly less acetylcholinesterase outside acetylcholine receptors. Given the role of the acetylcholine receptor γ-subunit in fetal neuromuscular signal transduction and in establishing the primary encounter of muscle and motor nerve terminal, the CHRNG mutations described in Escobar syndrome may cause a broader disruption of postsynaptic proteins and result in aberrant development of the NMJ due to impaired prenatal neuromuscular transmission and/or abnormal neuromuscular synaptogenesis.

Progressive myoclonic epilepsy: myoclonic epilepsy and ataxia due to KCNC1 mutation (MEAK): a case report and review of the literature.

Progressive myoclonic epilepsy (PME) is characterized by prominent myoclonus and generalized or focal seizures. A recently described novel KCNC1 mutation is associated with a specific phenotype of progressive myoclonic epilepsy, which has been defined as myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). Our case illustrates a typical presentation of this disease and the potential for misdiagnosis as idiopathic generalized epilepsy during the early phase of the disease. Unique findings that may suggest an alternative diagnosis are a progressive myoclonus, prominent ataxia/dysmetria on examination, and abnormally high amplitude in the sensory evoked potential recording. We also report a brief review of the existing literature on MEAK. Early and accurate diagnosis with genetic testing may significantly help in counseling patients and families.