A Rare Case of Primary Malignant Melanoma of the Esophagus Presenting as Dysphagia.

Melanoma is one of the most notorious tumors due to its appearance in unusual locations. The most frequent site is the skin; however, it can sporadically develop as a primary tumor in the esophagus. However, as symptoms appear later, if the primary site is in the gastrointestinal system, it is frequently detected at the metastatic stage.

Association of the Achondroplasia Foramen Magnum Score and intraoperative neuromonitoring.

Introduction: Foramen magnum stenosis in achondroplasia carries a risk of sudden death. A proportion of these patients benefit from foramen magnum decompression (FMD). The Achondroplasia Foramen Magnum Score (AFMS) was developed to stratify those most at risk.

Neonatal seizures during extra corporeal membrane oxygenation support.

To evaluate EEG monitoring during neonatal ECMO and to identify any correlations between seizure detection to abnormal neuroimaging. Eight-year, service evaluation of neonates who received at least one continuous EEG (cEEG) whilst on ECMO at Great Ormond Street Hospital. Pearson's chi-square test and multivariate logistic regression analysis were used to assess clinical and EEG variables association with seizures and neuroimaging findings.

Sleep homeostasis, seizures, and cognition in children with focal epilepsy.

Aim: To investigate the link between sleep disruption and cognitive impairment in childhood epilepsy by studying the effect of epilepsy on sleep homeostasis, as reflected in slow-wave activity (SWA).

Method: We examined SWA from overnight EEG-polysomnography in 19 children with focal epilepsy (mean [SD] age 11 years 6 months [3 years], range 6 years 6 months-15 years 6 months; 6 females, 13 males) and 18 age- and sex-matched typically developing controls, correlating this with contemporaneous memory consolidation task scores, full-scale IQ, seizures, and focal interictal discharges.

Results: Children with epilepsy did not differ significantly from controls in overnight SWA decline (p = 0.

Proportion of resected seizure onset zone contacts in pediatric stereo-EEG-guided resective surgery does not correlate with outcome.

Objective: We aimed to determine whether the proportion of putative seizure onset zone (SOZ) contacts resected associates with seizure outcome in a cohort of children undergoing stereoelectroencephalography (SEEG)-guided resective epilepsy surgery.

Methods: Patients who underwent SEEG-guided resective surgery over a six-year period were included. The proportion of SOZ contacts resected was determined by co-registration of pre- and post-operative imaging.

Intraoperative neurophysiological monitoring in paediatric Chiari surgery-help or hindrance?

Introduction: The role of intraoperative neurophysiological monitoring (IONM) during surgery for Chiari I malformation has not been fully elucidated. Questions remain regarding its utility as an adjunct to foramen magnum decompression surgery, specifically, does IONM improve the safety profile of foramen magnum decompression surgery and can IONM parameters help in intraoperative surgical decision-making. This study aimed to describe a single institution experience of IOM during paediatric Chiari I surgery.

SEEG-guided radiofrequency thermocoagulation of epileptic foci in the paediatric population: Feasibility, safety and efficacy.

Purpose: Focal epilepsy in children may be refractory to pharmacological treatment and surgical resection may be an appropriate option. When invasive electroencephalogram is required in the presurgical evaluation, depth electrodes can be used to create focal lesions in the epileptogenic zone using radiofrequency thermocoagulation (RFTC), to disrupt the epileptogenic zone.

Methods: This study aimed to assess the efficacy and safety of RFTC in a paediatric population of 46 patients.

SYT1-associated neurodevelopmental disorder: a case series.

Synaptotagmin 1 (SYT1) is a critical mediator of fast, synchronous, calcium-dependent neurotransmitter release and also modulates synaptic vesicle endocytosis. This paper describes 11 patients with de novo heterozygous missense mutations in SYT1. All mutations alter highly conserved residues, and cluster in two regions of the SYT1 C2B domain at positions Met303 (M303K), Asp304 (D304G), Asp366 (D366E), Ile368 (I368T) and Asn371 (N371K).

Consensus-based guidelines for Video EEG monitoring in the pre-surgical evaluation of children with epilepsy in the UK.

Purpose: Paediatric Epilepsy surgery in the UK has recently been centralised in order to improve expertise and quality of service available to children. Video EEG monitoring or telemetry is a highly specialised and a crucial component of the pre-surgical evaluation. Although many Epilepsy Monitoring Units work to certain standards, there is no national or international guideline for paediatric video telemetry.

Mutations in a Sibship with Multifocal Polymyoclonus.

Background: Advances in molecular genetic technologies have improved our understanding of genetic causes of rare neurological disorders with features of myoclonus.

Case Report: A family with two affected siblings, presenting with multifocal polymyoclonus and neurodevelopmental delay, was recruited for whole-exome sequencing following unyielding diagnostic neurometabolic investigations. Compound heterozygous mutations in , a gene previously associated with various epilepsy phenotypes and hearing loss, were identified in both siblings.

Auditory processing following infantile spasms: An event-related potential study.

Objectives: To investigate acoustic auditory processing in patients with recent infantile spasms (IS).

Methods: Patients (n = 22; 12 female; median age 8 months; range 5-11 months) had normal preceding development, brain magnetic resonance imaging (MRI), and neurometabolic testing (West syndrome of unknown cause, uWS). Controls were healthy babies (n = 22; 11 female; median age 6 months; range 3-12 months).

Does sleep benefit memory consolidation in children with focal epilepsy?

Objective: Children with epilepsy have high rates of both cognitive impairment and sleep disruption. It is thus assumed that sleep-dependent memory consolidation is vulnerable to ongoing epileptic activity, but direct evidence of this is limited.

Methods: We performed a within-subject comparison of memory retention across intervals of wake or overnight sleep.

Interictal epileptiform discharges have an independent association with cognitive impairment in children with lesional epilepsy.

Objectives: The relative contribution of interictal epileptiform discharges (IEDs) to cognitive dysfunction in comparison with the underlying brain pathology is not yet understood in children with lesional focal epilepsy.

Methods: The current study investigated the association of IEDs with intellectual functioning in 103 children with medication-resistant focal epilepsy. Hierarchical multiple regression analyses were used to determine the independent contribution of IED features on intellectual functioning, after controlling for effects of lesional pathology, epilepsy duration, and medication.

Electroencephalography during general anaesthesia differs between term-born and premature-born children.

Objectives: Premature birth is associated with a wide range of complications in later life, including structural and functional neurological abnormalities and altered pain sensitivity. We investigated whether during anaesthesia premature-born children display different patterns of background EEG activity and exhibit increased responses to nociceptive stimuli.

Methods: We examined background EEG and time-locked responses to clinical cannulation in 45 children (mean age (±SD) at study: 4.

Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.

There is increasing evidence that vitamin B6, given either as pyridoxine or pyridoxal 5'-phosphate, can sometimes result in improved seizure control in idiopathic epilepsy. Whole-exome sequencing was used to identify a de novo mutation (c.629G>A; p.

Outcome following multiple subpial transection in Landau-Kleffner syndrome and related regression.

Objective: To determine whether multiple subpial transection in the posterior temporal lobe has an impact on long-term outcome in children who have drug-resistant Landau-Kleffner syndrome (LKS) or other "electrical status epilepticus during sleep" (ESES)-related regression. Given the wide variability in outcomes reported in the literature, a secondary aim was to explore predictors of outcome.

Methods: The current study includes a surgery group (n = 14) comprising patients who underwent multiple subpial transection of the posterior temporal lobe and a nonsurgery comparison group (n = 21) comprising patients who underwent presurgical investigations for the procedure, but who did not undergo surgery.

Quantitative magnetic resonance imaging evidence for altered structural remodeling of the temporal lobe in West syndrome.

Objective: To explore the structure-function relation of the temporal lobe in newly diagnosed West syndrome of unknown cause (uWS).

Methods: Quantitative magnetic resonance imaging (three-dimensional [3D] structural MRI and diffusion tensor imaging [DTI]) was analyzed using voxel-based morphometry (VBM) and tract-based spatial statistics (TBSS) in 22 patients and healthy age-matched controls. The electrophysiologic responsiveness of the temporal lobe was measured using the N100 auditory event-related potential (aERP) to a repeated 1,000 Hz tone.

Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.

Synaptotagmin-1 (SYT1) is a calcium-binding synaptic vesicle protein that is required for both exocytosis and endocytosis. Here, we describe a human condition associated with a rare variant in SYT1. The individual harboring this variant presented with an early onset dyskinetic movement disorder, severe motor delay, and profound cognitive impairment.

Epileptic spasms and early-onset photosensitive epilepsy in Patau syndrome: An EEG study.

Introduction: Patau syndrome, trisomy 13, is the third commonest autosomal trisomy. It is associated with a 25-50% prevalence of epilepsy, but detailed electroclinical descriptions are rare. The occurrence of early-onset photosensitivity has recently been reported in single patients.

Temporal lobe impairment in West syndrome: event-related potential evidence.

Objective: This study investigates auditory processing in infants with West syndrome (WS) using event-related potentials (ERPs).

Methods: ERPs were measured in 25 infants with mainly symptomatic WS (age range = 3-10 months) and 26 healthy term infants (age range = 3-9 months) using an auditory novelty oddball paradigm. The ERP recordings were made during wakefulness and repeated in stage II sleep.

Noxious stimulation in children receiving general anaesthesia evokes an increase in delta frequency brain activity.

More than 235,000 children/year in the UK receive general anaesthesia, but it is unknown whether nociceptive stimuli alter cortical brain activity in anaesthetised children. Time-locked electroencephalogram (EEG) responses to experimental tactile stimuli, experimental noxious stimuli, and clinically required cannulation were examined in 51 children (ages 1-12 years) under sevoflurane monoanaesthesia. Based on a pilot study (n=12), we hypothesised that noxious stimulation in children receiving sevoflurane monoanaesthesia would evoke an increase in delta activity.