Brain language networks and cognitive outcomes in children with frontotemporal lobe epilepsy.

Introduction: Pediatric frontal and temporal lobe epilepsies (FLE, TLE) have been associated with language impairments and structural and functional brain alterations. However, there is no clear consensus regarding the specific patterns of cerebral reorganization of language networks in these patients. The current study aims at characterizing the cerebral language networks in children with FLE or TLE, and the association between brain network characteristics and cognitive abilities.

Treatment of Refractory Epilepsy With MEK Inhibitor in Patients With RASopathy.

Background: Several specific syndromes within the RASopathies spectrum lead to an increased risk of seizures up to developing refractory epileptic encephalopathy. Management remains symptomatic.

Methods: Here we report two patients treated with trametinib, a MEK1-2 inhibitor, as a precision strategy for drug-resistant epilepsy.

Pharmacogenetic testing in pediatric neurology: a pragmatic study evaluating clinician and patient perceptions.

To evaluate clinicians' and patients' perceptions of pharmacogenetic testing in a clinical setting. This is a pragmatic mixed-method prospective observational study. Hospital pharmacists and neurologists participated in focus groups regarding pharmacogenetic testing; patients who received pharmacogenetic testing and their community pharmacists completed surveys to assess their perception of these tests.

Recognition of Psychogenic Versus Epileptic Seizures Based on Videos.

Objective: Ictal semiology interpretation for differentiating psychogenic nonepileptic seizures (PNESs) and epileptic seizures (ESs) is important for the institution of appropriate treatment. Our objective was to assess the ability of different health care professionals (HCPs) or students to distinguish PNES from ES based on video-recorded seizure semiology.

Methods: This study was designed following the Standards for Reporting of Diagnostic Accuracy Studies (STARD) guidelines.

Cognitive outcome in children with infantile spasms using a standardized treatment protocol. A five-year longitudinal study.

Aim: To evaluate the long-term developmental trajectory of children with infantile spasms (IS) and identify the clinical protective and risk factors associated with their cognitive outcome.

Methods: We analyzed the five-year follow-up results of 41 children (13 female) from the previously published cohort (n = 68) recruited in a multicenter randomized controlled trial for 2-years, examining the effect of an adjunctive therapy (Flunarizine) on standardized IS treatment. The children were subsequently monitored in an open-label study for additional 3 years.

Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis.

Isolated neuroinflammatory disease has been described in case reports of familial hemophagocytic lymphohistiocytosis (FHL), but the clinical spectrum of disease manifestations, response to therapy and prognosis remain poorly defined. We combined an international survey with a literature search to identify FHL patients with (i) initial presentation with isolated neurological symptoms; (ii) absence of cytopenia and splenomegaly at presentation; and (iii) systemic HLH features no earlier than 3 months after neurological presentation. Thirty-eight (20 unreported) patients were identified with initial diagnoses including acute demyelinating encephalopathy, leukoencephalopathy, CNS vasculitis, multiple sclerosis, and encephalitis.

Seizures in Pediatric Patients With Primary Brain Tumors.

Background: Seizures are one of the most common symptoms of pediatric brain tumors. The purpose of this study was to define seizures related to primary central nervous system tumors and to identify risk factors predictive of seizure occurrence and recurrence.

Methods: We reviewed the records of children treated from January 1, 2004, to January 1, 2018 and collected data including age, gender, tumor location, histology, extent of initial resection, seizure characteristics, treatment modalities, recurrence, and seizure control.

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

We identified individuals with variations in ACTL6B, a component of the chromatin remodeling machinery including the BAF complex. Ten individuals harbored bi-allelic mutations and presented with global developmental delay, epileptic encephalopathy, and spasticity, and ten individuals with de novo heterozygous mutations displayed intellectual disability, ambulation deficits, severe language impairment, hypotonia, Rett-like stereotypies, and minor facial dysmorphisms (wide mouth, diastema, bulbous nose). Nine of these ten unrelated individuals had the identical de novo c.

Intracranial hypertension following sacrifice of occipital and marginal sinuses during posterior fossa decompression for Chiari I malformation: case report.

The occipital and marginal sinuses, when present, must be sacrificed in order to open the dura in most posterior fossa surgeries in the pediatric population, including posterior fossa decompression for Type I Chiari malformation (CM-I) with duraplasty. Apart from the immediate risk of hemorrhage, the voluntary occlusion of this structure is almost universally well tolerated. The authors report a case of intracranial hypertension following the sacrifice of occipital and marginal sinuses following posterior fossa decompression with duraplasty for CM-I.

Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study.

Background: Genetic generalised epilepsy is the most common type of inherited epilepsy. Despite a high concordance rate of 80% in monozygotic twins, the genetic background is still poorly understood. We aimed to investigate the burden of rare genetic variants in genetic generalised epilepsy.

Atypical juvenile presentation of G gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the gene.

G-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the gene that encodes G ganglioside activator protein (GM2AP). GM2AP is necessary for solubilisation of G ganglioside in endolysosomes and its presentation to β-hexosaminidase A. Conversely GM2AP deficiency impairs lysosomal catabolism of G ganglioside, leading to its storage in cells and tissues.

Periictal activity in cooled asphyxiated neonates with seizures.

Purpose: Seizures are common in critically ill neonates. Both seizures and antiepileptic treatments may lead to short term complications and worsen the outcomes. Predicting the risks of seizure reoccurrence could enable individual treatment regimens and better outcomes.

Rewarming affects EEG background in term newborns with hypoxic-ischemic encephalopathy undergoing therapeutic hypothermia.

Objective: To investigate how rewarming impacts the evolution of EEG background in neonates with hypoxic-ischemic encephalopathy (HIE) undergoing therapeutic hypothermia (TH).

Methods: We recruited a retrospective cohort of 15 consecutive newborns with moderate (9) and severe (6) HIE monitored with a continuous EEG during TH and at least 12h after its end. EEG background was analyzed using conventional visual and quantitative EEG analysis methods including EEG discontinuity, absolute and relative spectral magnitudes.

Efficacy and safety of lacosamide as an adjunctive therapy for refractory focal epilepsy in paediatric patients: a retrospective single-centre study.

Aim: Lacosamide is an antiepileptic drug approved for the treatment of focal epilepsy in adult patients. The aim of this observational study was to review our centre's experience with lacosamide and to characterize its effectiveness and tolerability as an adjunctive antiepileptic drug in a retrospective cohort of children with refractory focal epilepsy.

Methods: We retrospectively reviewed the medical records of 22 patients who received lacosamide from November 2009 to April 2014 at the CHU Ste-Justine, University of Montreal.

Recovery From Central Nervous System Acute Demyelination in Children.

Background: Few prospective studies have systematically evaluated the extent of recovery from incident acquired demyelinating syndromes (ADS) of the central nervous system in children.

Methods: In a national cohort study of pediatric ADS, severity of the incident attack and extent of recovery by 12 months were evaluated. Annual evaluations were used to determine current diagnoses (monophasic ADS or multiple sclerosis [MS]) and new deficits.

CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

CACNA1A loss-of-function mutations classically present as episodic ataxia type 2 (EA2), with brief episodes of ataxia and nystagmus, or with progressive spinocerebellar ataxia (SCA6). A minority of patients carrying CACNA1A mutations develops epilepsy. Non-motor symptoms associated with these mutations are often overlooked.

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.

Epileptic encephalopathies are increasingly thought to be of genetic origin, although the exact etiology remains uncertain in many cases. We describe here three girls from two nonconsanguineous families affected by a clinical entity characterized by dysmorphic features, early-onset intractable epilepsy, intellectual disability, and cortical blindness. In individuals from each family, brain imaging also showed specific changes, including an abnormally marked pontobulbar sulcus and abnormal signals (T2 hyperintensities) and atrophy in the occipital lobe.

The genetic landscape of infantile spasms.

Infantile spasms (IS) is an early-onset epileptic encephalopathy of unknown etiology in ∼40% of patients. We hypothesized that unexplained IS cases represent a large collection of rare single-gene disorders. We investigated 44 children with unexplained IS using comparative genomic hybridisation arrays (aCGH) (n = 44) followed by targeted sequencing of 35 known epilepsy genes (n = 8) or whole-exome sequencing (WES) of familial trios (n = 18) to search for rare inherited or de novo mutations.

Diagnosis of migraine in the pediatric emergency department.

Background: Migraine criteria lack sensitivity in children and are not designed to be used in the emergency department. This study's aim was to compare the diagnosis of migraine in children with moderate to severe headache made by pediatric emergency physicians to the International Classification of Headache Disorders II migraine criteria with annotation for children and a new criteria, the Irma emergency department criteria, using the neurologist's diagnosis as the gold standard.

Methods: This was part of a prospective study with a convenience sample of patients <18 years old, diagnosed with migraine by pediatric emergency physicians and treated with intravenous medication due to severity of symptoms.

Psychogenic nonepileptic seizures.

Psychogenic nonepileptic seizures (PNES) are clinical events resembling epileptic seizures but lacking abnormal cortical electrical discharges. They are involuntary manifestations of a psychological distress. PNES are less frequent in the pediatric population than in adults, they represent from 3.

[Surgical treatment of paediatric epileptic patients].

Epilepsy surgery is now accepted as a well proven therapeutic strategy for resistant epileptic patients either adults or children. Even though investigations and surgical techniques are similar in both groups, epileptic surgery in paediatric patients has some particularities. Epileptic aetiologies can differ in children, the disease occurs in an immature brain, at a time of intense plasticity, especially in younger patients.

Ataxia-telangiectasia presenting with a novel immunodeficiency.

Ataxia-telangiectasia is a rare autosomal recessive disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasias, and variable degrees of immunodeficiency. Immunologic evaluations of affected patients often reveal anomalies of humoral and cell-mediated immunity. We describe a case of ataxia-telangiectasia with an atypical immunodeficiency and a novel mutation in the ATM gene.

Hemimegalencephaly in an adult with normal intellectual function and mild epilepsy.

Hemimegalencephaly is a rare congenital brain malformation, usually associated with mental retardation, * refractory epilepsy, and progressive neurological deficits. We report the case of a 19-year-old female with de novo diagnosis of right hemimegalencephaly, normal intellectual function, and history of non-refractory epilepsy. She presented with weakness and paraesthesia of the left leg.