Lacosamide for the Treatment of Seizures in Neonates and Infants: A Retrospective Assessment of Efficacy and Tolerability.

Background: A retrospective study was conducted to assess the safety and efficacy of lacosamide in children aged less than 24 months.

Methods: Patients were included if they were ≤24 months when they first received lacosamide; patients were excluded if they were enrolled in research studies investigating lacosamide or if there were insufficient data in the chart. Treatment response was assessed by reviewing charts and electroencephalographic reports to determine reduction in seizure burden.

Electroencephalographic (EEG) Biomarkers in Genetic Neurodevelopmental Disorders.

Collectively, neurodevelopmental disorders are highly prevalent, but more than a third of neurodevelopmental disorders have an identifiable genetic etiology, each of which is individually rare. The genes associated with neurodevelopmental disorders are often involved in early brain development, neuronal signaling, or synaptic plasticity. Novel treatments for many genetic neurodevelopmental disorders are being developed, but disease-relevant clinical outcome assessments and biomarkers are limited.

Exploring the Age-Old Question: What Is the Predictive Value of EEG for Future Epilepsy in Children With Complex Febrile Seizures?

Children with complex febrile seizures (CFS) have increased risk for the development of epilepsy, but varying prognostic value has been ascribed to abnormal post-CFS electroencephalograms (EEGs). We conducted a retrospective cohort study of 621 children with post-CFS EEGs and identified an association between CFS and midline-vertex discharges, which were present in 52% of the 56 EEGs with interictal epileptiform discharges. Among patients who completed at least 1 year of follow-up, 24.

EEG and clinical characteristics of neonatal parechovirus encephalitis.

Rationale: Human parechoviruses (HPeVs) are single -stranded ribonucleic (RNA) viruses belonging to the picornaviridae family with characteristics similar to enteroviruses. They either cause mild respiratory and gastrointestinal or no symptoms in older children and adults but can be a major cause of central nervous system (CNS) infection in the neonatal period and demonstrate a seasonal predilection. Starting in March 2022, we saw eight patients with polymerase chain reaction (PCR) proven HPeV encephalitis with seizures and some electroencephalographic (EEG) features raising concerns for neonatal genetic epilepsy.

A case of Bainbridge-Ropers syndrome with breath holding spells and intractable epilepsy: challenges in diagnosis and management.

Background: Bainbridge-Ropers syndrome is caused by monoallelic ASXL3 variants on chromosome 18. Clinical features include dysmorphic facies, developmental delay, intellectual disability, autistic traits, hypotonia, failure to thrive, seizures and hyperventilation. Breath-holding spells with choreathetoid movements have been previously described.

Electroclinical Features in Duplication Syndrome: Pediatric Case Series.

Objective: duplication syndrome (MECP2DS) is an x-linked recessive syndrome characterized by infantile hypotonia, severe neurodevelopmental delay, intellectual disability, progressive spasticity, recurrent infections, and seizures. More than 50% of cases have been associated with epilepsy. Seizure semiology and electroencephalogram (EEG) findings in these patients are poorly described.

The 6th International Lafora Epilepsy Workshop: Advances in the search for a cure.

Lafora disease (LD) is a fatal childhood dementia with severe epilepsy and also a glycogen storage disease that is caused by recessive mutations in either the EPM2A or EPM2B genes. Aberrant, cytoplasmic carbohydrate aggregates called Lafora bodies (LBs) are both a hallmark and driver of the disease. The 6 International Lafora Epilepsy Workshop was held online due to the pandemic.

Retrospective analysis of open surgical versus laser interstitial thermal therapy callosotomy in pediatric patients with refractory epilepsy.

Objective: Corpus callosotomy remains an established surgical treatment for certain types of medically refractory epilepsy in pediatric patients. While the traditional surgical approach is often well tolerated, the advent of MR-guided laser interstitial thermal therapy (LITT) provides a new opportunity to ablate the callosal body in a minimally invasive fashion and minimize the risks associated with an open interhemispheric approach. However, the literature is sparse regarding the comparative efficacy and safety profiles of open corpus callosotomy (OCC) and LITT callosotomy.

Nicotine: A Targeted Therapy for Epilepsy Due to nAChR Gene Variants.

Objective: Genetic variants of the neuronal nicotinic acetylcholine receptor (nAChR) cause autosomal dominant sleep-related hypermotor epilepsy. Approximately 30% of autosomal dominant sleep-related hypermotor epilepsy patients are medically intractable. In preclinical models, pathogenic nAChR variants cause a gain of function mutation with sensitivity to acetylcholine antagonists and agonists.

Different ketogenesis strategies lead to disparate seizure outcomes.

Background: Despite the introduction of new medicines to treat epilepsy over the last 50 years, the number of patients with poorly-controlled seizures remains unchanged. Metabolism-based therapies are an underutilized treatment option for this population. We hypothesized that two different means of systemic ketosis, the ketogenic diet and intermittent fasting, would differ in their acute seizure test profiles and mitochondrial respiration.

Does Autoimmunity have a Role in Myoclonic Astatic Epilepsy? A Case Report of Voltage Gated Potassium Channel Mediated Seizures.

Background: There is expanding knowledge about the phenotypic variability of patients with voltage gated potassium channel complex (VGKC) antibody mediated neurologic disorders. The phenotypes are diverse and involve disorders of the central and peripheral nervous systems. The central nervous system manifestations described in the literature include limbic encephalitis, status epilepticus, and acute encephalitis.

Rett syndrome and epilepsy: an update for child neurologists.

Rett syndrome, a neurogenetic disorder predominantly affecting females, has many characteristic features including psychomotor retardation, impaired language development, hand stereotypies, gait dysfunction, and acquired microcephaly. Although each of these features undoubtedly contributes to the morbidity of this neurologic disorder, epilepsy is perhaps one of the most well-described and problematic, affecting as many as 50%-90% of patients. Seizures can often be refractory, requiring polytherapy and consideration of nonpharmacologic management (e.

The mTOR inhibitor rapamycin has limited acute anticonvulsant effects in mice.

Objective: The mammalian target of rapamycin (mTOR) pathway integrates signals from different nutrient sources, including amino acids and glucose. Compounds that inhibit mTOR kinase activity such as rapamycin and everolimus can suppress seizures in some chronic animal models and in patients with tuberous sclerosis. However, it is not known whether mTOR inhibitors exert acute anticonvulsant effects in addition to their longer term antiepileptogenic effects.