Benefits of routine ICU avoidance following stereo-electroencephalography.

Objective: Stereo-electroencephalography (SEEG) is a minimally invasive surgical technique for seizure localization in patients with refractory epilepsy. Acute postimplantation care varies, with many centers choosing routine postoperative ICU monitoring before transfer to an epilepsy monitoring unit (EMU). In this study, the authors aimed to describe their institutional experience implementing an ICU bypass guideline for pediatric patients, and to evaluate the safety and benefits of the bypass guideline, while comparing patient characteristics and outcomes before and after guideline implementation.

Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants.

Somatic mosaic variants contribute to focal epilepsy, with variants often present only in brain tissue and not in blood or other samples typically assayed for genetic testing. Thus, genetic analysis for mosaic variants in focal epilepsy has been limited to patients with drug-resistant epilepsy who undergo surgical resection and have resected brain tissue samples available. Stereo-EEG (sEEG) has become part of the evaluation for many patients with focal drug-resistant epilepsy, and sEEG electrodes provide a potential source of small amounts of brain-derived DNA.

Epilepsy surgery in Sturge-Weber syndrome with unilateral or bilateral asymmetric brain involvement: Boston Children's Hospital experience.

Objective: Sturge-Weber syndrome (SWS) is a neurocutaneous disorder caused by a somatic mosaic mutation in the GNAQ gene. Epilepsy is seen in 75%-80% of children with SWS, and they are at high risk of early onset seizures, status epilepticus, and drug-resistant epilepsy. Epilepsy surgery is an effective treatment, but timing and candidacy for epilepsy surgery remain controversial in this patient population.

Neuromodulation Strategies in Lennox-Gastaut Syndrome: Practical Clinical Guidance from the Pediatric Epilepsy Research Consortium.

Lennox-Gastaut syndrome (LGS) is a severe developmental and epileptic encephalopathy characterized by multiple drug-resistant seizure types, cognitive impairment, and distinctive electroencephalographic patterns. Neuromodulation techniques, including vagus nerve stimulation (VNS), deep brain stimulation (DBS), and responsive neurostimulation (RNS), have emerged as important treatment options for patients with LGS who do not respond adequately to antiseizure medications. This review, developed with input from the Pediatric Epilepsy Research Consortium (PERC) LGS Special Interest Group, provides practical guidance for clinicians on the use of these neuromodulation approaches in patients with LGS.

Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants.

Somatic mosaic variants contribute to focal epilepsy, but genetic analysis has been limited to patients with drug-resistant epilepsy (DRE) who undergo surgical resection, as the variants are mainly brain-limited. Stereoelectroencephalography (sEEG) has become part of the evaluation for many patients with focal DRE, and sEEG electrodes provide a potential source of small amounts of brain-derived DNA. We aimed to identify, validate, and assess the distribution of potentially clinically relevant mosaic variants in DNA extracted from trace brain tissue on individual sEEG electrodes.

Intralesional epileptiform activity in a fourth ventricular hamartoma associated with epileptic hemifacial spasm in a toddler: illustrative case.

Background: Focal epilepsy caused by a posterior fossa lesion is a rare phenomenon. In these cases, seizure onset typically occurs during the first few months of life, with episodes of epileptic hemifacial spasms and abnormal eye movements. Patients often present with drug-resistant epilepsy and often require resection for the best chance of seizure freedom.

The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome.

Children with developmental and epileptic encephalopathies often present with co-occurring dyskinesias. Pathogenic variants in ARX cause a pleomorphic syndrome that includes infantile epilepsy with a variety of movement disorders ranging from focal hand dystonia to generalized dystonia with frequent status dystonicus. In this report, we present three patients with severe movement disorders as part of ARX-associated epilepsy-dyskinesia syndrome, including a patient with a novel pathogenic missense variant (p.