Laser Interstitial Thermal Therapy (LITT) in pediatric neurosurgery: Single center retrospective analysis of 41 consecutive procedures.

Introduction: Laser Interstitial Thermal Therapy under MRI control has emerged as a safe and efficient alternative to microsurgery in epilepsy and neurooncology procedures. Yet it has been used only recently in seldom European centers. Here, we report our 4 years' experience with LITT in children (complications, epileptic and oncologic outcomes).

An extreme type of new onset refractory status epilepticus with stimulus-induced seizures in pharmacological isoelectric states.

Objective: Status epilepticus (SE) is a common neurological emergency associated with high morbidity and mortality. SE is classified as refractory when it persists despite benzodiazepine and second-line antiseizure medication. Managing refractory SE in the intensive care setting often requires high doses of sedative drugs, which can induce burst suppression or complete electrical suppression (amplitude < 10 μV).

Exploring transition in epilepsy within ERN EpiCARE centers: Insights from a survey analysis.

The transition from pediatric to adult healthcare is a critical stage for young individuals with chronic neurological disorders, particularly those with rare and complex epilepsies. This paper aims to explore the practice of transition by healthcare providers within EpiCARE. Through a comprehensive questionnaire, developed in collaboration with European Patient Advocacy Groups, this study investigates the current management of transition and identifies key barriers hindering stakeholders' needs.

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature.

Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti-seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates (to bypass a block). In most IEMs, seizures present with variable and non-specific semiology and EEG findings.

Longitudinal PET and MRI Evaluation in Late Onset Rasmussen Encephalitis: A Series of Three Cases.

Background: Rasmussen's encephalitis (RE) is a rare, chronic, neurological disorder characterized by progressive focal epilepsy and hemispheric atrophy. Late-onset RE poses diagnostic challenges due to atypical clinical features and nonspecific early MRI findings.

Methods: This case series underscores the value of [18F]FDG PET in detecting unihemispheric hypometabolism and crossed cerebellar diaschisis at diagnosis, before MRI changes appear.

Facial emotion recognition in focal epilepsy: localization is not the main factor.

Objectives: Facial emotion recognition is impaired in people with epilepsy (PWE). Little is known about the factors that truly impact this deficit. Therefore, we aimed to study the role of seizure focus localization, both before and after surgery.

Striatal interdependencies in focal seizures: Insights from stereoelectroencephalographic functional connectivity analysis.

Objective: We investigated the interdependency between striatal activity and the electrophysiological dynamics of the cortical epileptogenic zone using intracerebral stereoelectroencephalographic recordings in patients with drug-resistant epilepsy. We performed both qualitative and quantitative analyses of ictal striatal activity and its synchronization with the cerebral cortex to gain deeper insight into the striatal contribution to seizure regulation.

Methods: Thirty-one patients were retrospectively included.

GABRA2-related encephalopathy: Identification of two phenotypes with distinctive electroclinical features.

Pathogenic variants in γ-aminobutyric acid type A (GABA) receptor subunit genes are increasingly associated with epilepsy and neurodevelopmental disorders. Pathogenic variants in GABRA2, encoding the α-2 subunit of GABA receptors, have been recently reported. This study aims to better delineate the phenotypic spectrum of GABRA2 pathogenic variants.

Clinical trial knowledge in families of children with epilepsy. A survey from a French Center for Rare Epilepsies.

Clinical trials are essential to the development of innovative treatments. Many patients and families have limited knowledge of biomedical research. This study aimed to determine whether families of children with epilepsy were interested in learning more about biomedical research, what specific trial-related topics they wanted to know more about, and how they preferred to receive this information.

Dravet syndrome: Insights into seizure and speech progression from registry data.

Objective: Dravet syndrome (DS) is a rare genetic developmental and epileptic encephalopathy syndrome characterized by refractory seizures and neurodevelopmental disorders beginning in infancy. This study aims to understand the natural history of DS by utilizing longitudinal data from patient registries.

Methods: We analysed data from 475 subjects across two European patient registries (RESIDRAS and Platform-RESIDRAS) from Dravet Italia Onlus, collected between 2010 and 2024.

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.

Objective: Genetic testing is now included in the diagnostic assessment of childhood onset epilepsies. We evaluated the yield of a targeted next generation sequencing (TNGS) panel dedicated to pediatric epilepsies.

Methods: We tested by TNGS panel 1000 consecutive patients presenting with childhood onset epilepsies and including mainly patients with early onset epilepsies (under 2 years, 61%).

Auditory evoked delta brushes involve stimulus-specific cortical networks in preterm infants.

During the third trimester of gestation in humans, the auditory cortex displays spontaneous and auditory-evoked EEG patterns of intermittent local oscillatory activity nested in delta waves - delta brushes (DBs). To test whether the spatiotemporal dynamics of evoked DBs depends on stimulus type, we studied auditory evoked responses (AERs) to voice and "click" using 32-electrode EEG in 30 healthy neonates aged 30 to 38 post-menstrual weeks. Both stimuli elicited two peaks at approximately 250 ms and 600 ms, the second corresponding to the first principal components of the AER and the evoked DB.

kcnb1 loss of function in zebrafish causes neurodevelopmental and epileptic disorders associated with γ-aminobutyric acid dysregulation.

Objective: KCNB1 encodes an α-subunit of the delayed-rectifier voltage-dependent potassium channel K2.1. De novo pathogenic variants of KCNB1 have been linked to developmental and epileptic encephalopathies (DEEs), diagnosed in early childhood and sharing limited treatment options.

Explosive onset focal epilepsies without cortical malformation: A review of a pediatric cohort with pathogenic variations in the GATOR1 complex (DEPDC5, NPRL3 and NPRL2).

GATOR1 complex genes (DEPDC5, NPRL2, NPRL3) are associated with focal epilepsies, often without cortical malformations or intellectual disabilities. Our study focused on 10 children, with GATOR1 pathogenic variation and negative MRIs, all experiencing focal epilepsy onset between ages 1 and 7 years. Three were initially misdiagnosed with immune encephalitis, with seizure frequencies ranging from 2 per week to 40 per day.

Epilepsy and Alzheimer disease: New insights and perspectives.

Numerous epidemiological and pathophysiological arguments suggest a bidirectional link between late-onset epilepsy and Alzheimer's disease. However, the temporal and causal relationship between the pathophysiological processes underlying these two conditions remains unclear. It is likely that these connections are complex, requiring consideration of various scenarios of causality and reciprocity.

Assessing the diagnostic performance of investigations in pediatric myoclonic epilepsies: A retrospective cohort study.

Objective: The primary purpose was to assess the diagnostic performance of investigations in children with myoclonic epilepsy. The secondary objectives were to examine the definitive syndromic diagnoses and report the outcomes of pediatric myoclonic epilepsies.

Methods: We conducted a retrospective monocentric study from a pediatric center for rare epilepsies.

Epilepsy syndromes classification.

Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with "a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings". Syndromes often present in an age-dependent manner, carry both prognostic and treatment implications, and are associated with a specific range of comorbidities.

Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study.

Background: The current development of gynecology services for children and adolescents seeks to meet needs both in the overall population and in patients with rare diseases. In France, the referral center for rare gynecological diseases specializes in four major types of conditions, namely, uterovaginal malformations, hereditary hemorrhagic diseases, rare benign breast diseases, and gynecological repercussions of rare chronic diseases.

Objective: To describe consecutive patients who had a first visit in 2018-2023 at the referral center for rare gynecological diseases at the Necker Pediatric University Hospital in Paris, France, and who were diagnosed with a condition in any of the four categories listed above.

The Mickey Mouse's hand sign in brain MRI points out multinodular and vacuolating neuronal tumors in mesial temporal lobe structures.

Purpose: Multinodular and vacuolating neuronal tumor (MVNT) is a rarely diagnosed neoplastic lesion often associated with adult-onset focal seizures. In some situations, atypical MRI features of MVNT may mimic other long-term epilepsy associated tumors (LEATs) or diffuse low-grade gliomas. In such a context, the identification of distinct clinical markers is recommended.

Communicating a diagnosis of Dravet syndrome to parents/caregivers: An international Delphi consensus.

Objective: Dravet syndrome is a developmental and epileptic encephalopathy characterized by drug-resistance, lifelong seizures, and significant comorbidities including intellectual and motor impairment. Receiving a diagnosis of Dravet syndrome is challenging for parents/caregivers, and little research has focused on how the diagnosis should be given. A Delphi consensus process was undertaken to determine key aspects for healthcare professionals (HCPs) to consider when communicating a Dravet syndrome diagnosis to parents/caregivers.

Contribution of neuroimaging to the understanding of social cognition in epilepsy.

This narrative review aims to identify and summarize existing research to better understand the pathophysiological and neuroanatomical bases of social cognition deficits in people with epilepsy. The neuroanatomical basis of social cognition was primarily examined in healthy subjects. In healthy individuals, social cognition is supported by a complex network of interconnected brain regions.

Vigabatrin-associated brain magnetic resonance imaging abnormalities and clinical symptoms in infants with tuberous sclerosis complex.

Objective: Previous retrospective studies have reported vigabatrin-associated brain abnormalities on magnetic resonance imaging (VABAM), although clinical impact is unknown. We evaluated the association between vigabatrin and predefined brain magnetic resonance imaging (MRI) changes in a large homogenous tuberous sclerosis complex (TSC) cohort and assessed to what extent VABAM-related symptoms were reported in TSC infants.

Methods: The Dutch TSC Registry and the EPISTOP cohort provided retrospective and prospective data from 80 TSC patients treated with vigabatrin (VGB) before the age of 2 years and 23 TSC patients without VGB.