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Letter to the editor: In reply to Sansone et  al.
Letter to the editor: In reply to Sansone et al. Eur J Paediatr Neurol. 2018 Mar 29;: Authors: Langer T, Pechmann A, Wider S, Kirschner J PMID: 29628153 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - March 29, 2018 Category: Neurology Authors: Langer T, Pechmann A, Wider S, Kirschner J Tags: Eur J Paediatr Neurol Source Type: research

Function in unaffected arms of children with obstetric brachial plexus palsy.
CONCLUSIONS: The fine and gross motor functions of the unaffected arms of children with OBPP are significantly worse in children between the ages of four and eight but this deficit improves with age, and possibly with ongoing therapy. PMID: 29627308 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - March 26, 2018 Category: Neurology Authors: Aktaş D, Eren B, Keniş-Coşkun Ö, Karadag-Saygi E Tags: Eur J Paediatr Neurol Source Type: research

Corrigendum to "Dissociative sensibility disorders  - A retrospective case series and systematic literature review" [Eur J Paediatr Neurol (2018) 27-38].
Corrigendum to "Dissociative sensibility disorders - A retrospective case series and systematic literature review" [Eur J Paediatr Neurol (2018) 27-38]. Eur J Paediatr Neurol. 2018 Mar 13;: Authors: Weber P, Erlacher R PMID: 29548596 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - March 13, 2018 Category: Neurology Authors: Weber P, Erlacher R Tags: Eur J Paediatr Neurol Source Type: research

Fetal alcohol spectrum disorders (FASD) - What we know and what we should know - The knowledge of German health professionals and parents.
The objective of our study was to evaluate the knowledge about fetal alcohol spectrum disorders (FASD) and the implementation of the German guideline for FASD among different professionals in the health and social system and among parents with children with FASD. METHODS: A questionnaire about FASD, containing 20 items, was sent by post to all children's hospitals (n = 287), all hospitals for child and adolescent psychiatry (n = 173), all social paediatric centres (n = 162), all neuropaediatricians (n = 129) and all youth welfare offices (n = 672) in Germany. Furthermo...
Source: European Journal of Paediatric Neurology - March 2, 2018 Category: Neurology Authors: Landgraf MN, Albers L, Rahmsdorf B, Vill K, Gerstl L, Lippert M, Heinen F Tags: Eur J Paediatr Neurol Source Type: research

Movement disorders in children: The need to observe, describe in detail and integrate your findings to the global clinical picture.
PMID: 29447765 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 16, 2018 Category: Neurology Authors: Arzimanoglou A Tags: Eur J Paediatr Neurol Source Type: research

Dystonia in childhood: Rising networks.
PMID: 29447766 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 16, 2018 Category: Neurology Authors: Willemsen MA Tags: Eur J Paediatr Neurol Source Type: research

Deep brain stimulation in cerebral palsy: Time for dynamism in a static encephalopathy.
PMID: 29447767 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 16, 2018 Category: Neurology Authors: Merola A, Fasano A Tags: Eur J Paediatr Neurol Source Type: research

Childhood Acute Neuropsychiatric Syndromes …furthering the discussion PANS and PANDAS.
Childhood Acute Neuropsychiatric Syndromes…furthering the discussion PANS and PANDAS. Eur J Paediatr Neurol. 2018 Mar;22(2):223-224 Authors: Hedderly T, Malik O PMID: 29447768 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 16, 2018 Category: Neurology Authors: Hedderly T, Malik O Tags: Eur J Paediatr Neurol Source Type: research

CANS: Childhood acute neuropsychiatric syndromes.
Abstract The terms Pediatric Autoimmune Neuropsychiatric disorders associated with streptococcal infections (PANDAS), Pediatric acute-onset neuropsychiatric Syndrome (PANS), and Childhood Acute Neuropsychiatric Symptoms (CANS) have been used to describe certain acute onset neuropsychiatric pediatric disorders. This clinical characteristic was unusually abrupt onset of obsessive compulsive symptoms and/or severe eating restrictions and concomitant cognitive, behavioral or neurological symptoms. Because the CANS/PANS criteria define a broad spectrum of neuropsychiatric conditions, the syndrome is presumed to result ...
Source: European Journal of Paediatric Neurology - February 1, 2018 Category: Neurology Authors: Zibordi F, Giovanna Z, Miryam C, Nardo N Tags: Eur J Paediatr Neurol Source Type: research

ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.
Abstract Mutations in the ATP1A3 gene, which encodes the alpha3-subunit of sodium-potassium ATPase, are related to a spectrum of neurological diseases including Rapid onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss (CAPOS) syndrome. Moreover, an increasing number of patients with intermediate and non classical phenotypes have been reported. Herein we describe 7 patients with 6 different de novo ATP1A3 mutations, and we focus on paroxysmal and chronic movement disorders with the help of video docum...
Source: European Journal of Paediatric Neurology - January 29, 2018 Category: Neurology Authors: Stagnaro M, Pisciotta L, Gherzi M, Di Rocco M, Gurrieri F, Parrini E, Prato G, Veneselli E, De Grandis E Tags: Eur J Paediatr Neurol Source Type: research

The relevance of gene panels in movement disorders diagnosis: A lab perspective.
Abstract Next-Generation Sequencing (NGS) is a group of new methods that allow sequencing a variable number of known genes (targeted resequencing) or even the whole human genome (whole genome sequencing-WGS) and have contributed to an exponential genetic knowledge growth, especially in rare diseases, in the past few years. Since 2015, in the Molecular Neurogenetics Unit of Neurological Institute "Carlo Besta", some gene panels have become available to screen all the known genes associated with Movement Disorders (MD) in children and adults as a diagnostic package. Over 221 patients analyzed (part of the ...
Source: European Journal of Paediatric Neurology - January 29, 2018 Category: Neurology Authors: Reale C, Panteghini C, Carecchio M, Garavaglia B Tags: Eur J Paediatr Neurol Source Type: research

Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome.
In conclusion, we stress the importance of considering genetic syndromes in the differential diagnosis of early-onset movement disorders. PMID: 29396177 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - January 29, 2018 Category: Neurology Authors: Caporali C, Signorini S, De Giorgis V, Pichiecchio A, Zuffardi O, Orcesi S Tags: Eur J Paediatr Neurol Source Type: research

Pediatric NMDAR encephalitis: A single center observation study with a closer look at movement disorders.
Abstract Anti-N-Methyl-d-aspartate-receptor (NMDAR) encephalitis is the most frequent autoimmune encephalitis in pediatric age. This retrospective observational study was aimed at describing the clinical characteristics of the disease in a cohort of children and teenagers. Eighteen patients (10 females and 8 males), with a median age of 12.4 years at symptom onset were enrolled. The clinical presentation of the disease was marked by neurological manifestations in 13 patients and by severe psychiatric and behavioral symptoms in 5. The symptoms at onset varied according to the age: all the children presented wi...
Source: European Journal of Paediatric Neurology - January 26, 2018 Category: Neurology Authors: Granata T, Matricardi S, Ragona F, Freri E, Zibordi F, Andreetta F, Binelli S, Nardocci N Tags: Eur J Paediatr Neurol Source Type: research

Diagnosis and treatment of pediatric onset isolated dystonia.
Abstract Isolated dystonia refers to a genetic heterogeneous group of progressive conditions with onset of symptoms during childhood or adolescence, progressive course with frequent generalization and marked functional impairment. There are well-known monogenic forms of isolated dystonia with pediatric onset such as DYT1 and DYT6 transmitted with autosomal dominant inheritance and low penetrance. Genetic findings of the past years have widened the etiological spectrum and the phenotype. The recently discovered genes (GNAL, ANO-3, KTM2B) or variant of already known diseases, such as Ataxia-Teleangectasia, are emerg...
Source: European Journal of Paediatric Neurology - January 17, 2018 Category: Neurology Authors: Zorzi G, Carecchio M, Zibordi F, Garavaglia B, Nardocci N Tags: Eur J Paediatr Neurol Source Type: research

Basal ganglia mechanisms in action selection, plasticity, and dystonia.
Abstract Basal ganglia circuits are organized to selected desired actions and to inhibit potentially competing unwanted actions. This is accomplished through a complex circuitry that is modified through development and learning. Mechanisms of neural plasticity underlying these modifications are increasingly understood, but new mechanisms continue to be discovered. Dystonia, a movement disorder characterized by involuntary muscle contractions that cause abnormal postures and movements. Emerging evidence points to important links between mechanisms of plasticity and the manifestations of dystonia. Investigation of t...
Source: European Journal of Paediatric Neurology - January 17, 2018 Category: Neurology Authors: Mink JW Tags: Eur J Paediatr Neurol Source Type: research

The neuropsychology of basal ganglia.
Abstract Basal ganglia are subcortical structures specialized at very early age, functionally different according to the right or left side. They are part of complex distributed network composed by parallel segregated loops where specific information are processed and open loops where different information are integrated. These loops are connected to specialized cortical areas thus entering into distributed processing of higher order cognitive functions and behaviours. Lesion or malfunction of basal ganglia nuclei cause deficits in different neuropsychological functions and neurobehavioural diseases, such Autism S...
Source: European Journal of Paediatric Neurology - January 12, 2018 Category: Neurology Authors: Riva D, Taddei M, Bulgheroni S Tags: Eur J Paediatr Neurol Source Type: research

Transient benign paroxysmal movement disorders in infancy.
rez E Abstract This review summarizes the current empirical and clinical literature on benign paroxysmal movement disorders in infancy most relevant to practitioners. Paroxysmal benign movement disorders are a heterogeneous group of movement disorders characterized by their favourable outcome. We pay special attention to the recognition and management of these abnormal motor conditions strongly suggestive of epileptic disorders. They include: neonatal jitteriness; benign neonatal sleep myoclonus; benign paroxysmal tonic upgaze; paroxysmal tonic downgaze, benign paroxysmal torticollis and benign polymorphous moveme...
Source: European Journal of Paediatric Neurology - January 12, 2018 Category: Neurology Authors: Fernández-Alvarez E Tags: Eur J Paediatr Neurol Source Type: research

Severe dysautonomia as a main feature of anti-GAD encephalitis: Report of a paediatric case and literature review.
CONCLUSION: Our report intends to raise awareness of autoimmune encephalitis with anti-GAD65 antibodies which may involve extralimbic brain regions and manifest with fatal dysautonomia. We highlight the need for prompt diagnosis and aggressive management for this underdiagnosed entity in children. PMID: 29370977 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - January 12, 2018 Category: Neurology Authors: Ben Achour N, Ben Younes T, Rebai I, Ben Ahmed M, Kraoua I, Ben Youssef-Turki I Tags: Eur J Paediatr Neurol Source Type: research

Risk factors in childhood arterial ischaemic stroke: Findings from a population-based study in Germany.
Abstract OBJECTIVE: Acute treatment of childhood arterial ischaemic stroke and prevention strategies for recurrent stroke episodes depend strongly on each child's individual risk profile. The aim of this study is to characterize risk factors for childhood stroke, their occurrence in isolation or combination, and to identify possible common risk factor patterns. METHODS: This population-based study was conducted via ESPED, a surveillance unit for rare paediatric diseases in Germany. Children aged>28days and
Source: European Journal of Paediatric Neurology - January 10, 2018 Category: Neurology Authors: Gerstl L, Weinberger R, von Kries R, Heinen F, Schroeder AS, Bonfert MV, Borggraefe I, Tacke M, Vill K, Landgraf MN, Kurnik K, Olivieri M Tags: Eur J Paediatr Neurol Source Type: research

A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype.
CONCLUSION: The case highlights a very rare mechanism of inheritance for MFN2 mutations and expands the clinical and allelic variance of severe CMT2A phenotype. Moreover, it proposes the involvement of cerebellar peduncles observed at neuroimaging as a novel clue to suspect the diagnosis and address genetic testing. PMID: 29361379 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - January 5, 2018 Category: Neurology Authors: Iapadre G, Morana G, Vari MS, Pinto F, Lanteri P, Tessa A, Santorelli FM, Striano P, Verrotti A Tags: Eur J Paediatr Neurol Source Type: research

Cognitive function in Rett syndrome: Profoundly impaired or near normal?
PMID: 29332766 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - January 1, 2018 Category: Neurology Authors: Loffler G, Gordon GE Tags: Eur J Paediatr Neurol Source Type: research

Case series: Use of Glyceryl Trinitrate patches to improve peripheral circulation in children with severe neurodisability.
Abstract AIM: Evaluation of topical Glyceryl trinitrate as a therapeutic option to improve peripheral circulation in 16 children with severe complex neurodisability, poor capillary return and signs of vascular insufficiency, including discomfort. METHODS: If insufficient improvement in capillary return was obtained using conservative measures, a 5 mg GTN patch was placed each day on the front of the tibia of each leg. Children were reviewed clinically for up to 12 months of treatment. Distal limb comfort was measured using a Likert scale, either patient or carer reported. Standardised capillary refill ti...
Source: European Journal of Paediatric Neurology - December 31, 2017 Category: Neurology Authors: Morrison F, Fairhurst J, Fairhurst C Tags: Eur J Paediatr Neurol Source Type: research

Initial clinical presentation of young children with N-methyl-d-aspartate receptor encephalitis.
rat J Abstract Autoimmune encephalitis with anti-N-methyl-d-aspartate receptor autoantibodies (NMDA-R-Abs) is a recently described disease affecting adult and pediatric patients. Symptoms of the disease are now perfectly described in the adult population but the clinical presentation is less known in young children. The aim of the present study was to describe the clinical presentation and the specificities of symptoms presented by young children with NMDA-R-Abs encephalitis to improve diagnosis of this disease, and to compare these to a series of previously published female adult patients. Fifty cases of children...
Source: European Journal of Paediatric Neurology - December 28, 2017 Category: Neurology Authors: Favier M, Joubert B, Picard G, Rogemond V, Thomas L, Rheims S, Bailhache M, Villega F, Pédespan JM, Berzero G, Psimaras D, Antoine JC, Desestret V, Honnorat J Tags: Eur J Paediatr Neurol Source Type: research

Questionnaire survey on the current status of ketogenic diet therapy in patients with glucose transporter 1 deficiency syndrome (GLUT1DS) in Japan.
CONCLUSIONS: The families of patients showed a high level of satisfaction with the efficacy of KD therapy for the neurological symptoms. However, in order to continue KD therapy for a long period of time, its tolerability needs to be improved. PMID: 29307699 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - December 26, 2017 Category: Neurology Authors: Oguni H, Ito Y, Otani Y, Nagata S Tags: Eur J Paediatr Neurol Source Type: research

Circulating neural antibodies in unselected children with new-onset seizures.
ff CM Abstract OBJECTIVE: The role of autoimmunity and neural antibodies is increasingly recognized in different forms of seizures and epilepsy. Their prevalence in new-onset epilepsy has also recently been the focus of several clinical cohorts in the adult and pediatric population, with positive titers in 10-11% of cases. Our aim was to determine the seropositivity at the first seizure onset in a non-selective group of children. METHOD: We conducted a prospective multicenter cohort study recruiting children aged 0-16 years with new-onset seizures presenting at the In- and Outpatient Pediatric Neurology Depar...
Source: European Journal of Paediatric Neurology - December 21, 2017 Category: Neurology Authors: Garcia-Tarodo S, Datta AN, Ramelli GP, Maréchal-Rouiller F, Bien CG, Korff CM Tags: Eur J Paediatr Neurol Source Type: research

ATP1A3-related disorders: An update.
Abstract Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders. From 2004 to 2012, both autosomal dominant and de novo mutations in ATP1A3 have been detected in patients affected by these three conditions. Growing evidence suggests that AHC, RDP and CAPOS syndrome are part of a large and continuously expanding clinical spectrum and share some recurrent clinical fea...
Source: European Journal of Paediatric Neurology - December 21, 2017 Category: Neurology Authors: Carecchio M, Zorzi G, Ragona F, Zibordi F, Nardocci N Tags: Eur J Paediatr Neurol Source Type: research

Reverse phenotyping to further define a new mitochondrial depletion syndrome caused by an ISCA2 mutation: Commentary on: Alfadhel et  al. Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.
Reverse phenotyping to further define a new mitochondrial depletion syndrome caused by an ISCA2 mutation: Commentary on: Alfadhel et al. Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases. Eur J Paediatr Neurol. 2017 Dec 21;: Authors: Babiker MOE PMID: 29289521 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - December 21, 2017 Category: Neurology Authors: Babiker MOE Tags: Eur J Paediatr Neurol Source Type: research

Administering epilepsy rescue medication to children: Why and why not?
PMID: 29289524 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - December 21, 2017 Category: Neurology Authors: Mifsud J Tags: Eur J Paediatr Neurol Source Type: research

Intermittent upbeat nystagmus in infancy and antihistamine medications.
PMID: 29289526 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - December 20, 2017 Category: Neurology Authors: Robert MP, Vidal PP Tags: Eur J Paediatr Neurol Source Type: research

Principles and approaches to the treatment of immune-mediated movement disorders.
Abstract Immune mediated movement disorders include movement disorders in the context of autoimmune encephalitis such as anti-NMDAR encephalitis, post-infectious autoimmune movement disorders such as Sydenham chorea, paraneoplastic autoimmune movement disorders such as opsoclonus myoclonus ataxia syndrome, and infection triggered conditions such as paediatric acute neuropsychiatric syndrome. This review focuses on the approach to treatment of immune mediated movement disorders, which requires an understanding of the immunopathogenesis, whether the disease is destructive or 'altering', and the natural history of di...
Source: European Journal of Paediatric Neurology - December 19, 2017 Category: Neurology Authors: Mohammad SS, Dale RC Tags: Eur J Paediatr Neurol Source Type: research

Corticosteroid treatment in Sydenham's chorea.
Abstract Sydenham's chorea (SC) is an immune-mediated hyperkinetic movement disorder, developing after group A Beta-hemolytic streptococcal (GABHS) infection. Aside from conventional symptomatic treatment (carbamazepine, valproate, neuroleptics), the use of steroids has also been advocated, mainly in severe, drug-resistant cases or if clinically disabling side effects develop with first line therapies. Based on the description of 5 cases followed in the Child Neurology Unit of Santa Maria Nuova Hospital in Reggio Emilia and on the available medical literature on this topic, we propose considering the use of cortic...
Source: European Journal of Paediatric Neurology - December 16, 2017 Category: Neurology Authors: Fusco C, Spagnoli C Tags: Eur J Paediatr Neurol Source Type: research

SLC19A3 related disorder: Treatment implication and clinical outcome of 2 new patients.
We describe two new patients suffering from BSN due to biallelic SLC19A3 mutations. In the first patient vitamin supplementation was started early on, resulting in the remission of the clinical picture, and an almost complete normalization of the neuroradiological findings. In the second one treatment was started late, compliance was irregular and the resulting clinical outcome was poor. The clinical outcome of our two patients confirms and further stresses the importance of the early administration of vitamin supplementation in all patients presenting with neostriatal lesions, or clear bilateral striatal necrosis. Patient...
Source: European Journal of Paediatric Neurology - December 16, 2017 Category: Neurology Authors: Tonduti D, Invernizzi F, Panteghini C, Pinelli L, Battaglia S, Fazzi E, Zorzi G, Moroni I, Garavaglia B, Chiapparini L, Nardocci N Tags: Eur J Paediatr Neurol Source Type: research

Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B.
Abstract In 2016, two research groups independently identified microdeletions and pathogenic variants in the lysine-specific histone methyltransferase 2B gene, KMT2B in patients with early-onset progressive dystonia. KMT2B-dystonia (DYT28) is emerging as an important and frequent cause of childhood-onset progressive generalised dystonia and is estimated to potentially account for up to 10% of early-onset generalised dystonia. Herein, we review variants in KMT2B associated with dystonia, as well as the clinical phenotype, treatment and underlying disease mechanisms. Furthermore, in context of this newly identified ...
Source: European Journal of Paediatric Neurology - December 15, 2017 Category: Neurology Authors: Gorman KM, Meyer E, Kurian MA Tags: Eur J Paediatr Neurol Source Type: research

Intrathecal baclofen in progressive neurological disease: To be considered before all other options fail.
PMID: 29248320 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - December 8, 2017 Category: Neurology Authors: Bonouvrie ML Tags: Eur J Paediatr Neurol Source Type: research

Pediatric stroke related to Lyme neuroborreliosis: Data from the Swiss NeuroPaediatric Stroke Registry and literature review.
CONCLUSIONS: Lyme Neuroborreliosis accounts for a small proportion of paediatric stroke even in an endemic country. The strong predilection towards posterior cerebral circulation with clinical occurrence of brainstem signs associated with meningeal symptoms and CSF lymphocytosis are suggestive features that should rapidly point to the diagnosis. This can confirmed by appropriate serological testing in the serum and CSF. Clinicians must be aware of this rare neurological complication of Lyme disease that demands specific antibiotic treatment. PMID: 29208342 [PubMed - as supplied by publisher] (Source: European Journal ...
Source: European Journal of Paediatric Neurology - November 24, 2017 Category: Neurology Authors: Monteventi O, Steinlin M, Regényi M, Roulet-Perez E, Weber P, Fluss J Tags: Eur J Paediatr Neurol Source Type: research

Febrile infection-related epilepsy syndrome (FIRES) with super-refractory status epilepticus revealing autoimmune encephalitis due to GABAAR antibodies.
CONCLUSION: this is the first reported case of a FIRES-like condition due to autoimmune encephalitis mediated by GABAAR antibodies. Our case suggests that GABAAR antibodies should be investigated FIRES. PMID: 29203057 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - November 24, 2017 Category: Neurology Authors: Caputo D, Iorio R, Vigevano F, Fusco L Tags: Eur J Paediatr Neurol Source Type: research

EEG background activity and extreme delta brush in children with anti-NMDAR encephalitis.
PMID: 29198503 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - November 24, 2017 Category: Neurology Authors: Mohammad SS, Dale RC Tags: Eur J Paediatr Neurol Source Type: research

Pseudotumor cerebri syndrome in a patient with narcolepsy type 1.
We present a case of a young girl with both NT1 and PTCS that responded well to treatment with acetazolamide after early identification, with improvement of headache and resolution of hypoventilation. PMID: 29195824 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - November 21, 2017 Category: Neurology Authors: Rossor T, Lim M, VanDenEshof K, Gringras P Tags: Eur J Paediatr Neurol Source Type: research

Parents' advice to healthcare professionals working with children who have spinal muscular atrophy.
CONCLUSIONS: Parents advised healthcare professionals to increase their disease-specific knowledge, to treat the parents as experts on their child, and to treat the family with respect, particularly in situations where the child's case is used as an opportunity to improve healthcare professionals' competence. Increased practical support in daily life and a case coordinator is also among parents' advice to healthcare professionals. PMID: 29146237 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - November 13, 2017 Category: Neurology Authors: Hjorth E, Kreicbergs U, Sejersen T, Lövgren M Tags: Eur J Paediatr Neurol Source Type: research

Pediatric Guillain-Barr é Syndrome: Is a low amplitude of nerve action potentials always a bad omen?
Pediatric Guillain-Barré Syndrome: Is a low amplitude of nerve action potentials always a bad omen? Eur J Paediatr Neurol. 2017 Nov;21(6):804 Authors: Müller-Felber W PMID: 28985957 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - October 9, 2017 Category: Neurology Authors: Müller-Felber W Tags: Eur J Paediatr Neurol Source Type: research

The direction of nystagmus: Letter to the Editor regarding the manuscript "Downbeat nystagmus due to ranitidine in a pediatric patient." by Butrague ño Laiseca et al. Eur J Paediatr Neurol. 2017 Jul;21(4):682-684.
The direction of nystagmus: Letter to the Editor regarding the manuscript "Downbeat nystagmus due to ranitidine in a pediatric patient." by Butragueño Laiseca et al. Eur J Paediatr Neurol. 2017 Jul;21(4):682-684. Eur J Paediatr Neurol. 2017 Sep 20;: Authors: Lee ES, Kim JS, Lee TK PMID: 28964671 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - September 20, 2017 Category: Neurology Authors: Lee ES, Kim JS, Lee TK Tags: Eur J Paediatr Neurol Source Type: research

Acute unilateral ophthalmoparesis associated with anti-GQ1b and GM1 antibodies after parvovirus infection in a 10-year-old girl.
PMID: 28967628 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - September 20, 2017 Category: Neurology Authors: Canavese C, Mancini S, Tocchet A, Colombo S, Calzedda R, Conrieri M, Vitiello B Tags: Eur J Paediatr Neurol Source Type: research

Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin.
CONCLUSION: AIFM1 mutations cause childhood cerebellar ataxia, which may be partially treatable in some patients with high dose riboflavin. PMID: 28967629 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - September 15, 2017 Category: Neurology Authors: Heimer G, Eyal E, Zhu X, Ruzzo EK, Marek-Yagel D, Sagiv D, Anikster Y, Reznik-Wolf H, Pras E, Oz Levi D, Lancet D, Ben-Zeev B, Nissenkorn A Tags: Eur J Paediatr Neurol Source Type: research

Intrathecal baclofen treatment an option in X-linked adrenoleukodystrophy.
CONCLUSION: The treatment of spasticity and dystonia in these patients is difficult partly due to the relentless nature of this progressive disorder. In our two patients, ITB has been effective from both a symptomatic and palliative perspective. We recommend that such treatment be considered as an early option for increased muscle tone in boys with the cerebral form of X-ALD. PMID: 28964670 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - September 14, 2017 Category: Neurology Authors: Hjartarson HT, Ehrstedt C, Tedroff K Tags: Eur J Paediatr Neurol Source Type: research

Enterovirus D68 acute flaccid paresis - Destroying young lives.
PMID: 28927884 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - September 11, 2017 Category: Neurology Authors: Eunson P Tags: Eur J Paediatr Neurol Source Type: research

The challenge of triaging apparently mild paediatric traumatic brain injury in the emergency room: We're not there yet.
PMID: 28927885 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - September 7, 2017 Category: Neurology Authors: Forsyth R Tags: Eur J Paediatr Neurol Source Type: research

Immune-mediated neurological syndromes: Old meets new.
PMID: 28903859 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - September 6, 2017 Category: Neurology Authors: Rossor T, Lim MJ Tags: Eur J Paediatr Neurol Source Type: research

Dissociative sensibility disorders - A retrospective case series and systematic literature review.
CONCLUSIONS: There is no uniform procedure for diagnostic work-up. The overall short-term prognosis is good. PMID: 28899586 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - September 1, 2017 Category: Neurology Authors: Weber P, Erlacher R Tags: Eur J Paediatr Neurol Source Type: research

No substitute to being there.
PMID: 28784229 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - August 10, 2017 Category: Neurology Authors: Shevell M Tags: Eur J Paediatr Neurol Source Type: research

Juvenile myasthenia gravis.
PMID: 28784230 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - August 10, 2017 Category: Neurology Authors: Heckmann JM Tags: Eur J Paediatr Neurol Source Type: research