European Journal of Paediatric Neurology 
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This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.Corrigendum to "Is diffuse axonal injury on susceptibility weighted imaging a biomarker for executive functioning in adolescents with traumatic brain injury?" [Eur. J. Paediatr. Neurol. (2019) 525-536].
Corrigendum to "Is diffuse axonal injury on susceptibility weighted imaging a biomarker for executive functioning in adolescents with traumatic brain injury?" [Eur. J. Paediatr. Neurol. (2019) 525-536].
Eur J Paediatr Neurol. 2020 Jun 26;:
Authors: Vander Linden C, Verhelst H, Genbrugge E, Deschepper E, Caeyenberghs K, Vingerhoets G, Deblaere K
PMID: 32600976 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - June 26, 2020 Category: Neurology Authors: Vander Linden C, Verhelst H, Genbrugge E, Deschepper E, Caeyenberghs K, Vingerhoets G, Deblaere K Tags: Eur J Paediatr Neurol Source Type: research
Copy number variation in genetic epilepsy with febrile seizures plus.
rs KA
Abstract
AIM: Genetic epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which affected individuals may have a variety of epilepsy phenotypes, the most common being febrile seizures (FS) and febrile seizures plus (FS+). We investigated the possible contribution of copy number variation to GEFS+.
METHOD: We searched our epilepsy research database for patients in GEFS + families who underwent chromosomal microarray analysis. We reviewed the clinical features and results of genetic testing in these families.
RESULTS: Of twelve families with available microarray da...
Source: European Journal of Paediatric Neurology - June 20, 2020 Category: Neurology Authors: Fortin O, Vincelette C, Chénier S, Ghais A, Shevell MI, Simard-Tremblay E, Myers KA Tags: Eur J Paediatr Neurol Source Type: research
Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes.
sca G
Abstract
OBJECTIVE: Self-limited focal epilepsies of childhood (SFEC) are amongst the best defined and most frequent epilepsy syndromes affecting children with usually normal developmental milestones. They include core syndromes such as Rolandic epilepsy or "Benign" epilepsy with Centro-Temporal Spikes and the benign occipital epilepsies, the early onset Panayiotopoulos syndrome and the late-onset Gastaut type. Atypical forms exist for all of them. Atypical Rolandic epilepsies are conceptualized as belonging to a continuum reaching from the "benign" RE to the severe end of the Landau-Klef...
Source: European Journal of Paediatric Neurology - May 29, 2020 Category: Neurology Authors: Rudolf G, de Bellescize J, de Saint Martin A, Arzimanoglou A, Valenti Hirsch MP, Labalme A, Boulay C, Simonet T, Boland A, Deleuze JF, Nitschké P, Ollivier E, Sanlaville D, Hirsch E, Chelly J, Lesca G Tags: Eur J Paediatr Neurol Source Type: research
Headache in children with Sturge-Weber syndrome - Prevalence, associations and impact.
CONCLUSIONS: Headache is common in children with SWS, often without classical migraine features and affects daily activities. Awareness of headache and its associations in SWS may improve management of this complex population.
PMID: 32561288 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 28, 2020 Category: Neurology Authors: Arkush L, Prabhakar P, Scott RC, Aylett SE Tags: Eur J Paediatr Neurol Source Type: research
Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy.
Abstract
Among 1339 unrelated cases accrued by the Italian National Registry for facioscapulohumeral muscular dystrophy (FSHD), we found three unrelated cases who presented signs of Williams-Beuren Syndrome (WBS) in early childhood and later developed FSHD. All three cases carry the molecular defects associated with the two disorders. The rarity of WBS and FSHD, 1 in 7500 and 1 in 20,000 respectively, makes a random association of the two diseases unlikely. These cases open novel and unexpected interpretation of genetic findings. The nonrandom association of both FSHD and WBS points at a gene co-expression network...
Source: European Journal of Paediatric Neurology - May 22, 2020 Category: Neurology Authors: Rodolico C, Politano L, Portaro S, Murru S, Boccone L, Sera F, Passamano L, Brizzi T, Tupler R Tags: Eur J Paediatr Neurol Source Type: research
Transient cortical diffusion restriction in children immediately after prolonged febrile seizures.
CONCLUSIONS: Some children with PFSs exhibit transient restricted diffusion in the regional cortex on DWI performed immediately after the end of PFS. These transient diffusion changes were not associated with unfavorable epileptic sequelae or neuroimaging in the short-term.
PMID: 32473849 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 19, 2020 Category: Neurology Authors: Suzuki T, Kidokoro H, Kubota T, Fukasawa T, Suzui R, Tsuji T, Kato T, Yamamoto H, Ohno A, Nakata T, Saitoh S, Okumura A, Natsume J Tags: Eur J Paediatr Neurol Source Type: research
Efficacy of nusinersen in type 1, 2 and 3 spinal muscular atrophy: Real world data from Hungarian patients.
ek D, Herczegfalvi Á
Abstract
INTRODUCTION: Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by a homozygous deletion of the survival motor neuron (SMN) 1 gene. Nusinersen is an antisense oligonucleotide enhancing the production of the SMN protein. It has received approval by the European Medicines Agency (EMA) in 2017, based on the clinical trials demonstrating the effectiveness of nusinersen in several types of SMA. In Hungary, the first patient received nusinersen treatment in April 2018. Our aim is to summarize our experience regarding the efficacy, safety and tolerability of nusi...
Source: European Journal of Paediatric Neurology - May 14, 2020 Category: Neurology Authors: Szabó L, Gergely A, Jakus R, Fogarasi A, Grosz Z, Molnár MJ, Andor I, Schulcz O, Goschler Á, Medveczky E, Czövek D, Herczegfalvi Á Tags: Eur J Paediatr Neurol Source Type: research
Motor learning in unilateral cerebral palsy and the influence of corticospinal tract reorganization.
Abstract
Cerebral Palsy (CP) is a complex neurological disorder, characterized by congenital motor disability associated with behaviour, perception and cognition disorders. The sensorimotor impairments represent the main hallmark of the disease, significantly impacting the quality of life. So far, few studies have investigated motor learning abilities in CP and their association with the plastic reorganization of the motor system remains largely unknown. The present proof-of-principle study explored explicit motor sequence learning in children with unilateral CP and different patterns of motor system reorganizatio...
Source: European Journal of Paediatric Neurology - May 4, 2020 Category: Neurology Authors: Carneiro MIS, Russo C, Masson R, Rossi Sebastiano D, Baranello G, Turati C, Bolognini N Tags: Eur J Paediatr Neurol Source Type: research
Prevalence of congenital myasthenic syndromes is underestimated and varies with the region of investigation.
PMID: 32359833 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 23, 2020 Category: Neurology Authors: Finsterer J Tags: Eur J Paediatr Neurol Source Type: research
Seizures during treatment of childhood acute lymphoblastic leukemia: A population-based cohort study.
CONCLUSION: Seizures are relatively common in ALL patients and occur most often in patients with PRES, SVT, or as an isolated symptom. Older children have higher risk of seizures.
PMID: 32340855 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 18, 2020 Category: Neurology Authors: Anastasopoulou S, Heyman M, Eriksson MA, Niinimäki R, Taskinen M, Mikkel S, Vaitkeviciene GE, Johannsdottir IM, Myrberg IH, Jonsson OG, Als-Nielsen B, Schmiegelow K, Banerjee J, Ranta S, Harila-Saari A Tags: Eur J Paediatr Neurol Source Type: research
Migraine in children under 6 years of age: A long-term follow-up study.
CONCLUSIONS: Our results suggest that the onset of migraine at very young age represents unfavorable prognostic factor for persistence of the disease at later ages. Some clinical features may change during clinical course, and the active persistence of the disorder may lead to an increase in allodynia.
PMID: 32334992 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 17, 2020 Category: Neurology Authors: Marchese F, Rocchitelli L, Messina LM, Nardello R, Mangano GD, Vanadia F, Mangano S, Brighina F, Raieli V Tags: Eur J Paediatr Neurol Source Type: research
High association of MOG-IgG antibodies in children with bilateral optic neuritis.
l;ngler V, Waltz S, Wegener-Panzer A, Wiegand G, Reindl M, Rostásy K
Abstract
BACKGROUND: Bilateral optic neuritis (bilON) is a rare clinical presentation often thought to be associated with relapsing disorders such as neuromyelitis optica spectrum disorders (NMOSD) or multiple sclerosis (MS).
OBJECTIVE: To characterize the clinical, radiological phenotype and antibody status of children presenting with bilON.
MATERIAL AND METHODS: Retrospective multicenter study on children with bilON age
Source: European Journal of Paediatric Neurology - April 15, 2020 Category: Neurology Authors: Wendel EM, Baumann M, Barisic N, Blaschek A, Coelho de Oliveira Koch E, Della Marina A, Diepold K, Hackenberg A, Hahn A, von Kalle T, Karenfort M, Kornek B, Lechner C, Leiz S, Merkenschlager A, Nosadini M, Sartori S, Schanda K, Schimmel M, Seemann L, Tün Tags: Eur J Paediatr Neurol Source Type: research
Prevalence of mental disorders in children and adolescents with cerebral palsy: Danish nationwide follow-up study.
ard J
Abstract
AIM: To compare the prevalence of mental disorders (MDs) in a cohort of children and adolescents with and without cerebral palsy (CP) and to explore whether there is an association between MDs and the Gross Motor Function Classification System (GMFCS) level.
METHOD: A register-linkage follow-up study of 10- to 16-year children with CP (identified in the Danish National Cerebral Palsy Registry, n = 893), and 2627 children without CP, matched by gender and age. Information on MDs was obtained from the National Patient Registry in Denmark and based on ICD-10-codes. Conditional logistic r...
Source: European Journal of Paediatric Neurology - April 13, 2020 Category: Neurology Authors: Rackauskaite G, Bilenberg N, Uldall P, Bech BH, Østergaard J Tags: Eur J Paediatr Neurol Source Type: research
Minor neurological signs and behavioural function at age 2 years in neonatal hypoxic ischaemic encephalopathy (HIE).
CONCLUSIONS: In this clinical cohort, the majority of children had favourable outcome at 2 years. However, children with MNS were at risk for cognitive and behavioural difficulties and will benefit from enhanced clinical follow-up and support.
PMID: 32327390 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 11, 2020 Category: Neurology Authors: Edmonds CJ, Helps SK, Hart D, Zatorska A, Gupta N, Cianfaglione R, Vollmer B Tags: Eur J Paediatr Neurol Source Type: research
Feasibility & safety of plasma exchange in paediatric neuro-immunology: A single center experience.
CONCLUSION: TPE was safe and well tolerated in our PNID patients.
PMID: 32307218 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 10, 2020 Category: Neurology Authors: Shah YD, Eksambe P, Fomani K, Louie J, Shefali K, Kothare S Tags: Eur J Paediatr Neurol Source Type: research
Management of PHACES syndrome: Risk of stroke and its prevention from a neurosurgical perspective.
CONCLUSIONS: Patients within the intermediate and high-risk strata for ischemic stroke must undergo a 6-vessel cerebral angiography and further hemodynamic evaluation to indicate need for cerebral revascularization to prevent ischemic stroke. Non-progressive vasculopathy associated with PHACES can itself be hemodynamically relevant for neurosurgical intervention. This vasculopathy is distinct from moyamoya angiopathy, which can occur in conjunction with PHACES, resulting in concurrent progressive vasculopathy that would otherwise be absent.
PMID: 32276757 [PubMed - as supplied by publisher] (Source: European Journal o...
Source: European Journal of Paediatric Neurology - March 18, 2020 Category: Neurology Authors: Habib M, Manilha R, Khan N Tags: Eur J Paediatr Neurol Source Type: research
Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.
CONCLUSIONS: TUBB3 related cortical malformations can be mild, consistent with dysgyria rather than typical pachygyria or polymicrogyria. The autopsy findings in fetal TUBB3 related dysgyria are abnormal orientation of sulci and gyri, but normal neuron morphology and layering. We suggest that TUBB3 - associated brain malformations can be suspected in-utero which in turn can aid in prognostic counselling and interpretation of genetic testing.
PMID: 32169460 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - March 4, 2020 Category: Neurology Authors: Blumkin L, Leibovitz Z, Krajden-Haratz K, Arad A, Yosovich K, Gindes L, Zerem A, Ben-Sira L, Lev D, Nissenkorn A, Kidron D, Dobyns WB, Malinger G, Bahi-Buisson N, Leventer RJ, Lerman-Sagie T Tags: Eur J Paediatr Neurol Source Type: research
Uncovering sleep in young males with Duchenne muscular dystrophy.
CONCLUSION: Our findings offer a novel look into sleep in young boys with Duchenne muscular dystrophy. Both parent-report and actigraphy data indicate poor sleep health in this population compared with age-matched unaffected peers. Actigraphy was found to align with parent-report of sleep in this population, supporting the use of these two different ways to measure sleep in Duchenne muscular dystrophy. Results from this study should encourage clinicians and researchers alike to further explore sleep and its impact on disease in young boys with Duchenne muscular dystrophy.
PMID: 32165079 [PubMed - as supplied by publis...
Source: European Journal of Paediatric Neurology - February 28, 2020 Category: Neurology Authors: Hartman AG, Terhorst L, Little N, Bendixen RM Tags: Eur J Paediatr Neurol Source Type: research
Ankle foot orthoses in cerebral palsy: Effects of ankle stiffness on trunk kinematics, gait stability and energy cost of walking.
We examined whether vAFO stiffness influences trunk movements and gait stability in CP, and whether there is a relationship between these factors and ECW. Fifteen children with spastic CP were prescribed vAFOs. Stiffness was varied into a rigid, stiff and flexible configuration. At baseline (shoes-only) and for each vAFO stiffness configuration, 3D-gait analyses and ECW-tests were performed. From the gait analyses, we derived trunk tilt, lateroflexion, and rotation range of motion (RoM) and the mediolateral and anteroposterior Margins of Stability (MoS) and their variability as measures of gait stability. With the ECW-test...
Source: European Journal of Paediatric Neurology - February 27, 2020 Category: Neurology Authors: Meyns P, Kerkum YL, Brehm MA, Becher JG, Buizer AI, Harlaar J Tags: Eur J Paediatr Neurol Source Type: research
The efficacy of endoscopic third ventriculostomy in children 1 year of age or younger: A systematic review and meta-analysis.
Abstract
PURPOSE: Hydrocephalus is a major cause of morbidity in the pediatric population, with potentially severe consequences if left untreated. Two viable strategies for management of non-communicating hydrocephalus are endoscopic third ventriculostomy (ETV) and ventriculoperitoneal shunting. However, there is uncertainty over the safety and efficacy of ETV in younger infants aged 1 year or below. In this systematic review, we aim to elucidate the success rate and procedural risks of ETV in this age group.
METHODS: A multi-database (PubMed, Embase, Web of Science) literature search between January 1990 and...
Source: European Journal of Paediatric Neurology - February 24, 2020 Category: Neurology Authors: Zaben M, Manivannan S, Sharouf F, Hammad A, Patel C, Bhatti I, Leach P Tags: Eur J Paediatr Neurol Source Type: research
Manifestation of migraine in adolescents: Does it change in puberty?
CONCLUSION: During puberty, migraine patterns in girls change to a typical adult pattern of migraine in a stepwise manner not clearly related to menarche. The first sign of this transition phase could be the higher frequency of migraine attacks in post-pubertal girls.
PMID: 32115367 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 20, 2020 Category: Neurology Authors: Böttcher B, Kyprianou A, Lechner C, Kößler M, Heinz-Erian E, Neururer S, Abdel Azim S, Wildt L, Toth B, Baumann M, Rauchenzauner M, Rostásy K Tags: Eur J Paediatr Neurol Source Type: research
Considering resilience models in recovery from pediatric stroke.
PMID: 32115368 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 19, 2020 Category: Neurology Authors: Dorris L Tags: Eur J Paediatr Neurol Source Type: research
Catatonia: An under-recognised treatable neuropsychiatric syndrome in developmental disorders.
PMID: 32107106 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 19, 2020 Category: Neurology Authors: Absoud M, Malik O Tags: Eur J Paediatr Neurol Source Type: research
Toward a better understanding of stroke-like episodes in Sturge-Weber syndrome.
;sz C
PMID: 32107105 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 14, 2020 Category: Neurology Authors: Juhász C Tags: Eur J Paediatr Neurol Source Type: research
Language functions deserve more attention in follow-up of children born very preterm.
Abstract
BACKGROUND: Language is a complex neurodevelopmental phenomenon. Approximately 45% of children born very preterm (VP) show mild-to-severe language problems throughout childhood. Nevertheless, in most hospitals in Europe language functions are not routinely assessed at follow-up.
OBJECTIVE: To give clear indications for extensive language assessment in school-aged children born VP, based on routinely assessed intelligence and behavioral problems.
METHOD: Language functions of 63 10-year-old children born VP (
Source: European Journal of Paediatric Neurology - February 14, 2020 Category: Neurology Authors: Stipdonk LW, Dudink J, Utens EMWJ, Reiss IK, Franken MJP Tags: Eur J Paediatr Neurol Source Type: research
Early or later cranial MRI in full-term infants with therapeutic hypothermia: Does it matter?
PMID: 32070631 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 11, 2020 Category: Neurology Authors: de Vries LS Tags: Eur J Paediatr Neurol Source Type: research
Prevalence and genetic subtypes of congenital myasthenic syndromes in the pediatric population of Slovenia.
jan O
Abstract
AIM: Congenital myasthenic syndromes (CMS) are rare, genetically and phenotypically diverse disorders of neuromuscular transmission. Data on prevalence among children are scarce. Whole exome sequencing facilitated discovery of novel CMS mutations and enabled targeted treatment. Our aim was to identify the prevalence, genetic subtypes and clinical characteristics of CMS in pediatric population of Slovenia.
METHODS: In this observational, national, cross-sectional study, medical records were retrospectively reviewed. Children with genetically confirmed CMS, referred over a 19 - year period (2000-...
Source: European Journal of Paediatric Neurology - February 11, 2020 Category: Neurology Authors: Anja TG, David N, Tanja G, Tita B, Tanja L, Aleš M, Damjan O Tags: Eur J Paediatr Neurol Source Type: research
Interventions to improve outcomes in children and young people with unresponsive wakefulness syndrome following acquired brain injury: A systematic review.
Abstract
Unresponsive wakefulness syndrome (UWS) is a disorder of consciousness (DoC) which describes a state of wakefulness without evidence of self or environmental awareness, or interaction. There is currently no universally accepted evidence-based intervention for the treatment of UWS. This systematic review aimed to identify interventions to improve functioning in children and young people (0-25 years) with UWS following acquired brain injury (ABI). A systematic review of electronic databases was conducted, consisting of CINAHL, EMBASE, Medline, PsycINFO, PubMed, Cochrane Library, Scopus and Google Scholar. E...
Source: European Journal of Paediatric Neurology - January 23, 2020 Category: Neurology Authors: Houston AL, Wilson NS, Morrall MC, Lodh R, Oddy JR Tags: Eur J Paediatr Neurol Source Type: research
Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with ventriculomegaly.
Abstract
OBJECTIVES: To systematically investigate chromosomal abnormalities and copy number variants (CNVs) in fetuses with different types of ventriculomegaly (VM) by karyotyping and/or chromosomal microarray analysis (CMA).
METHODS: This retrospective study included 312 fetuses diagnosed with VM. Amniotic fluid and umbilical blood samples were collected by amniocentesis and cordocentesis, respectively, and subjected to karyotyping and/or CMA. Subgroup analysis by VM type, including mild VM (MVM) and severe VM (SVM), unilateral and bilateral VM, isolated VM (IVM), and non-isolated VM (NIVM), was performed. ...
Source: European Journal of Paediatric Neurology - January 22, 2020 Category: Neurology Authors: Chang Q, Yang Y, Peng Y, Liu S, Li L, Deng X, Yang M, Lan Y Tags: Eur J Paediatr Neurol Source Type: research
Pediatric intracranial arteriovenous shunts: Advances in diagnosis and treatment.
Abstract
Pediatric intracranial arteriovenous shunts (IAVSs) comprise a wide range of lesions, including pial arteriovenous malformation (AVM) and arteriovenous fistula (AVF), dural arteriovenous fistula (DAVF) and vein of Galen aneurysmal malformation (VGAM). We provide an overview of pediatric IAVSs, encompassing both diagnosis and endovascular treatment. We include references from pertinent literature and representative cases from our hospital. Pediatric IAVS are frequently associated two broader conditions, such as capillary malformation-arteriovenous malformation (CM-AVM) and hereditary hemorrhagic telangiect...
Source: European Journal of Paediatric Neurology - January 18, 2020 Category: Neurology Authors: Lv X, Jiang C, Wang J Tags: Eur J Paediatr Neurol Source Type: research
Imaging epilepsy in larval zebrafish.
ch RE
Abstract
Our understanding of the genetic aetiology of paediatric epilepsies has grown substantially over the last decade. However, in order to translate improved diagnostics to personalised treatments, there is an urgent need to link molecular pathophysiology in epilepsy to whole-brain dynamics in seizures. Zebrafish have emerged as a promising new animal model for epileptic seizure disorders, with particular relevance for genetic and developmental epilepsies. As a novel model organism for epilepsy research they combine key advantages: the small size of larval zebrafish allows high throughput in vivo e...
Source: European Journal of Paediatric Neurology - January 14, 2020 Category: Neurology Authors: Burrows DRW, Samarut É, Liu J, Baraban SC, Richardson MP, Meyer MP, Rosch RE Tags: Eur J Paediatr Neurol Source Type: research
Genetic epilepsies and the Kv super-family.
PMID: 31983570 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - January 11, 2020 Category: Neurology Authors: Salpietro V, Houlden H Tags: Eur J Paediatr Neurol Source Type: research
Disrupted inhibition may give clues in understanding neurodevelopmental disorders.
PMID: 31973984 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - January 11, 2020 Category: Neurology Authors: Cobb SR Tags: Eur J Paediatr Neurol Source Type: research
Re: Time to move beyond genetics towards biomedical data-driven translational genomic research in severe paediatric epilepsies.
PMID: 31956041 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - January 11, 2020 Category: Neurology Authors: Johnson MR Tags: Eur J Paediatr Neurol Source Type: research
How gene discovery has transformed management of people with epilepsy.
PMID: 31952926 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - January 10, 2020 Category: Neurology Authors: Scheffer IE Tags: Eur J Paediatr Neurol Source Type: research
Seizures cluster around genetics.
PMID: 31948825 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - January 10, 2020 Category: Neurology Authors: Striano P Tags: Eur J Paediatr Neurol Source Type: research
Diagnosis and treatment of Guillain-Barr é Syndrome in childhood and adolescence: An evidence- and consensus-based guideline.
Diagnosis and treatment of Guillain-Barré Syndrome in childhood and adolescence: An evidence- and consensus-based guideline.
Eur J Paediatr Neurol. 2020 Jan 07;:
Authors: Korinthenberg R, Trollmann R, Felderhoff-Müser U, Bernert G, Hackenberg A, Hufnagel M, Pohl M, Hahn G, Mentzel HJ, Sommer C, Lambeck J, Mecher F, Hessenauer M, Winterholler C, Kempf U, Jacobs BC, Rostasy K, Müller-Felber W
Abstract
This evidence- and consensus-based practical guideline for the diagnosis and treatment of Guillain-Barré Syndrome (GBS) in childhood and adolescence has been developed by a group of...
Source: European Journal of Paediatric Neurology - January 7, 2020 Category: Neurology Authors: Korinthenberg R, Trollmann R, Felderhoff-Müser U, Bernert G, Hackenberg A, Hufnagel M, Pohl M, Hahn G, Mentzel HJ, Sommer C, Lambeck J, Mecher F, Hessenauer M, Winterholler C, Kempf U, Jacobs BC, Rostasy K, Müller-Felber W Tags: Eur J Paediatr Neurol Source Type: research
Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy.
DISCUSSION: Levetiracetam was effective in two cohorts of females with PCDH19-GCE where 42% and 76% of females became seizure free for>12 months, respectively. Levetiracetam is an effective therapy for females with PCDH19-GCE and should be considered early in the management of the highly refractory clusters of seizures that characterise this genetic disease.
PMID: 31928905 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - January 3, 2020 Category: Neurology Authors: Sadleir LG, Kolc KL, King C, Mefford HC, Dale RC, Gecz J, Scheffer IE Tags: Eur J Paediatr Neurol Source Type: research
Response to cannabidiol in epilepsy of infancy with migrating focal seizures associated with KCNT1 mutations: An open-label, prospective, interventional study.
Abstract
Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) is a rare, developmental and epileptic encephalopathy most commonly associated with mutations in KCNT1, a potassium channel. Polymorphous migrating focal seizures begin within 6 months of life and are pharmacoresistant to standard anticonvulsants. Additional therapies are needed to decrease seizure frequency and subsequent developmental deterioration associated with EIMFS. Cannabidiol (CBD) has recently arisen in public interest due to its potential in treatment-resistant epilepsies as demonstrated in randomized controlled trials for Dravet Syndrom...
Source: European Journal of Paediatric Neurology - December 31, 2019 Category: Neurology Authors: Poisson K, Wong M, Lee C, Cilio MR Tags: Eur J Paediatr Neurol Source Type: research
Deciphering the concepts behind "Epileptic encephalopathy" and "Developmental and epileptic encephalopathy".
Deciphering the concepts behind "Epileptic encephalopathy" and "Developmental and epileptic encephalopathy".
Eur J Paediatr Neurol. 2019 Dec 31;:
Authors: Scheffer IE, Liao J
Abstract
The recent introduction of the term 'developmental and epileptic encephalopathy' by the International League Against Epilepsy has added another conceptual layer to understanding the most severe group of epilepsies. An epileptic encephalopathy is defined by the presence of frequent epileptiform activity that impacts adversely on development, typically causing slowing or regression of developmental skil...
Source: European Journal of Paediatric Neurology - December 31, 2019 Category: Neurology Authors: Scheffer IE, Liao J Tags: Eur J Paediatr Neurol Source Type: research
Differential excitatory vs inhibitory SCN expression at single cell level regulates brain sodium channel function in neurodevelopmental disorders.
Lal D
Abstract
The four voltage-gated sodium channels SCN1/2/3/8A have been associated with heterogeneous types of developmental disorders, each presenting with disease specific temporal and cell type specific gene expression. Using single-cell RNA sequencing transcriptomic data from humans and mice, we observe that SCN1A is predominantly expressed in inhibitory neurons. In contrast, SCN2/3/8A are profoundly expressed in excitatory neurons with SCN2/3A starting prenatally, followed by SCN1/8A neonatally. In contrast to previous observations from low resolution RNA screens, we observe that all four genes are expres...
Source: European Journal of Paediatric Neurology - December 28, 2019 Category: Neurology Authors: Du J, Simmons S, Brunklaus A, Adiconis X, Hession CC, Fu Z, Li Y, Shema R, Møller RS, Barak B, Feng G, Meisler M, Sanders S, Lerche H, Campbell AJ, McCarroll S, Levin JZ, Lal D Tags: Eur J Paediatr Neurol Source Type: research
GABAergic abnormalities in the fragile X syndrome.
In conclusion, there can be little doubt that the GABAergic system is compromised in the fragile X syndrome and that these abnormalities contribute to the clinical abnormalities observed. However, at the moment the difference in treatment effectiveness of agonist of the receptor in animal models as opposed to in patients remains unexplained.
PMID: 31926845 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - December 24, 2019 Category: Neurology Authors: Van der Aa N, Kooy RF Tags: Eur J Paediatr Neurol Source Type: research
Influence of epilepsy surgery on developmental outcomes in children.
Abstract
Epilepsy surgery is the most effective treatment option for children with refractory focal lesional epilepsy, with seizure-freedom rates exceeding 70% two years after surgery. Although numbers of procedures in children are increasing over time, epilepsy surgery remains underutilized. Particularly in young children with developmental delay, arrest, or even regression, surgery can improve cognitive outcome. Many factors determine eventual developmental abilities, of which epilepsy duration is the most important modifiable predictor. Earlier surgery is not only associated with higher seizure-freedom rates, i...
Source: European Journal of Paediatric Neurology - December 20, 2019 Category: Neurology Authors: Braun KPJ Tags: Eur J Paediatr Neurol Source Type: research
Neurodevelopmental outcomes in paediatric immune-mediated and autoimmune epileptic encephalopathy.
This article reviews the current literature on neurodevelopmental outcomes in children affected with autoimmune and immune-mediated encephalitis/epileptic encephalopathy and provides guidance on post-onset surveillance aimed at identifying those most likely to experience ongoing long-term difficulties.
PMID: 31879225 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - December 20, 2019 Category: Neurology Authors: Wright SK, Wood AG Tags: Eur J Paediatr Neurol Source Type: research
Epilepsy and developmental disorders: Next generation sequencing in the clinic.
CONCLUSIONS: Genetic testing has become a first line test in epilepsy. As techniques improve and understanding advances, its utility is set to increase. Genetic diagnosis, particularly in early onset developmental and epileptic encephalopathies, influences treatment choice in a significant proportion of patients. The realistic prospect of gene therapy is a cause for optimism.
PMID: 31882278 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - December 18, 2019 Category: Neurology Authors: Symonds JD, McTague A Tags: Eur J Paediatr Neurol Source Type: research
The concept of disease modification.
Abstract
Traditionally treatment of epileptic seizures has been symptomatic, namely medication has been targeted at raising the threshold to the occurrence of epileptic seizures. This has had little impact on the rate of drug resistance over time, or impact on comorbidities such as learning and behaviour particularly in the early onset epilepsies. The advent of advanced neuroimaging and genomics has revealed the cause of the epilepsy in a much higher percentage, and advanced our knowledge as to the underlying pathophysiology. This has given us the opportunity to turn to the possibility of interventional treatment,...
Source: European Journal of Paediatric Neurology - December 17, 2019 Category: Neurology Authors: Cross JH, Lagae L Tags: Eur J Paediatr Neurol Source Type: research
In clinical practice, cerebral MRI in newborns is highly predictive of neurodevelopmental outcome after therapeutic hypothermia.
Abstract
OBJECTIVE: In the trials, a substantial proportion of newborns who underwent therapeutic hypothermia (TH) had an adverse outcome after hypoxic-ischaemic encephalopathy (HIE). Cooled babies were noted to have fewer cerebral lesions on MRI but when present lesions were predictive of adverse outcome. We investigate the predictive value of cerebral MRI in babies who undergo cooling in the clinical setting outside of the clinical trials in a prospective UK cohort.
RESULTS: Of 75 babies recruited from four centres, neurodevelopment was available for 69 (92%) with 29% (20/69) being abnormal. The unfavourabl...
Source: European Journal of Paediatric Neurology - December 17, 2019 Category: Neurology Authors: Tharmapoopathy P, Chisholm P, Barlas A, Varsami M, Gupta N, Ekitzidou G, Ponnusamy V, Kappelou O, Evanson J, Rosser G, Shah DK Tags: Eur J Paediatr Neurol Source Type: research
Epilepsy syndromes of childhood with sleep activation: Insights from functional imaging.
Abstract
In epilepsy syndromes of childhood with sleep activation, defined as the spectrum of epileptic conditions going from classical benign childhood epilepsy with centrotemporal spikes (BECTS) to epileptic encephalopathy (EE) with continuous spike and waves during slow-wave sleep (CSWS) including Landau-Kleffner syndrome (LKS), a lot of functional imaging studies have been performed so far, leading to results that are not always consistent, related to the technique of neuroimaging performed and to the variability of the clinical phenotype. Most consistent findings are, depending of the method used, activations...
Source: European Journal of Paediatric Neurology - December 17, 2019 Category: Neurology Authors: Van Bogaert P Tags: Eur J Paediatr Neurol Source Type: research
Interneuron deficits in neurodevelopmental disorders: Implications for disease pathology and interneuron-based therapies.
PMID: 31870698 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - December 14, 2019 Category: Neurology Authors: Paterno R, Casalia M, Baraban SC Tags: Eur J Paediatr Neurol Source Type: research
Rodent genetic models of neurodevelopmental disorders and epilepsy.
Abstract
Neurodevelopmental disorders (NDDs) are characterised by cognitive, social and motor deficits and are highly comorbid with intractable epilepsies. Through advances in genetic sequencing technologies a vast number of genes have been implicated in NDDs. State-of-the-art gene-editing techniques have led to the generation of hundreds of mouse models of NDDs. As an example, rodent models of Rett and Dravet syndromes as well as the syndromes caused by mutations in CDKL5 and Syngap1 display cognitive deficits in conjunction with seizure phenotypes. These models allow researchers to understand the underlying mech...
Source: European Journal of Paediatric Neurology - December 13, 2019 Category: Neurology Authors: Gonzalez-Sulser A Tags: Eur J Paediatr Neurol Source Type: research
