A5081442764- Metabolism and Genetic Disorders
- Epilepsy research and treatment
- Neonatal and fetal brain pathology
- Neurological and metabolic disorders
- Lysosomal Storage Disorders Research
- Pharmacological Effects and Toxicity Studies
- Cerebral Palsy and Movement Disorders
- Infectious Encephalopathies and Encephalitis
- Child Nutrition and Feeding Issues
- Genomics and Rare Diseases
- Mitochondrial Function and Pathology
- EEG and Brain-Computer Interfaces
- Ion channel regulation and function
- Botulinum Toxin and Related Neurological Disorders
- Diet and metabolism studies
- Gastroesophageal reflux and treatments
- Multiple Sclerosis Research Studies
- Folate and B Vitamins Research
- Congenital Diaphragmatic Hernia Studies
- Genetic Neurodegenerative Diseases
- Genetics and Neurodevelopmental Disorders
- Migraine and Headache Studies
- Neurological diseases and metabolism
- Glycogen Storage Diseases and Myoclonus
- Intestinal Malrotation and Obstruction Disorders
Sheffield Children's Hospital
2013-2024
Sheffield Children's NHS Foundation Trust
2011-2024
Guy's Hospital
2022
Great Ormond Street Hospital for Children NHS Foundation Trust
2022
University College London
2014-2022
Guy's and St Thomas' NHS Foundation Trust
2022
Creative Commons
2021
Royal College of Paediatrics and Child Health
2019
National Health Service
2016-2018
University of Sheffield
2017
Genetic variants of the SLC6A3 gene that encodes human dopamine transporter (DAT) have been linked to a variety neuropsychiatric disorders, particularly attention deficit hyperactivity disorder. In addition, homozygous Slc6a3 knockout mouse displays phenotype. Here, we analyzed 2 unrelated consanguineous families with infantile parkinsonism-dystonia (IPD) syndrome and identified missense mutations (p.L368Q p.P395L) in both families. Functional studies demonstrated were loss-of-function...
dopamine transporter deficiency syndrome is the first identified parkinsonian disorder caused by genetic alterations of transporter. We describe a cohort children with mutations in gene encoding (SLC6A3) aim to improve clinical and molecular characterisation, reduce diagnostic delay misdiagnosis, provide insights into pathophysiological mechanisms.11 biochemical profile suggestive were enrolled from seven paediatric neurology centres UK, Germany, USA February, 2009, studied until June, 2010....
To identify early prognostic factors of relapse and disability in children presenting with an acute idiopathic transverse myelitis (TM).Ninety-five TM from 2 national European cohorts (France United Kingdom) CNS demyelinating diseases were identified studied for that predict using logistic regression models.Sixteen (17%) relapsed, a diagnosis multiple sclerosis 13 (14%) neuromyelitis optica 3 (3%). Logistic revealed main criteria as risk relapse: female sex (odds ratio [OR] 3.21, 95%...
Several small case series identified KCTD7 mutations in patients with a rare autosomal recessive disorder designated progressive myoclonic epilepsy (EPM3) and neuronal ceroid lipofuscinosis (CLN14). Despite the name KCTD (potassium channel tetramerization domain), protein family members lack predicted domains. We sought to translate insight gained from yeast studies uncover disease mechanisms associated deficiencies of unknown function.Novel variants new published were assessed for causality...
To assess the incidence and complications of pre-septal (pre-SC) post-septal (post-SC) cellulitis over 10 years. Pre-SC post-SC are also known as periorbital orbital cellulitis, respectively.Retrospective analysis CT scans. Data included presence pre-SC post-SC, paranasal sinus disease (PNS) complications.Among 125 patients scanned for these suspected diagnoses, 67 had both 37 4 post-SC; there were 17 normal 110 PNS. 68/71 (96%) with Post-SC and/or subperiosteal abscess (50/71: 30 medial...
Background The evidence base to guide the pharmacological management of tone and abnormal movements in cerebral palsy (CP) is limited, as an understanding routine clinical practice UK. We aimed establish details motor phenotype current a representative cohort across network UK tertiary centres. Methods Prospective multicentre review specialist disorder clinics at nine centres, collecting data on features children young people (CYP) with CP over single calendar month. Results Data were...
We aimed to investigate the relationship between movement disorders, changes on brain magnetic resonance imaging (MRI), and vigabatrin therapy in children with infantile spasms.Retrospective review MRI analysis of enrolled International Collaborative Infantile Spasms Study (ICISS) who developed a disorder therapy. Comparisons were made controls within ICISS had no disorder.Ten 124 infants eight it Two that resolved dose-reduction vigabatrin, one improvement withdrawing two resolution without...
Imbalances in mitochondrial and peroxisomal dynamics are associated with a spectrum of human neurological disorders. Mitochondrial fission both involve dynamin-related protein 1 (DRP1) oligomerisation membrane constriction, although the precise biophysical mechanisms by which distinct DRP1 variants affect assembly activity different domains remains largely unexplored. We analysed four unreported de novo heterozygous dynamin-1-like gene DNM1L , affecting highly conserved domains, leading to...
The aim of the present study was to review history, clinical course, treatment, and outcome movement disorders in children young people with complex regional pain syndrome (CRPS). Case notes were reviewed retrospectively who presented CRPS our tertiary paediatric service over a period 13 years. Ten (eight females, two males). age at first presentation symptoms ranged from 8 15 years (mean 11y 2mo, median 13y). most common disorder dystonia ( n =8), followed by tremors =3) myoclonus =3);...
Abstract We describe three cousins who presented with agitation, dysphasia and/or coma, and developed hemiplegia following initial onset of symptoms. Two cases followed minor head injuries, two were pyrexial associated neutrophilia. required ventilatory support on the intensive care unit. Magnetic resonance imaging in all showed cortical swelling, one had evidence restricted water diffusion diffusion‐weighted imaging, suggestive ischaemia/infarction. A complete family history at time...
Dystonias can arise from any painful stimuli in neurologically disabled children. Classically, feed-induced dystonias mediastinal pain due to severe gastroesophageal reflux disease are described as Sandifer spasm. We report a case series of 12 severely impaired children with enteral dystonias. Intestinal dysmotility was demonstrated several. Improvements seen jejunal feeds or gut rest total parenteral nutrition. Use nutrition neurodisability requires thorough discussion patient groups and...