A5067813010- Epilepsy research and treatment
- Metabolism and Genetic Disorders
- Neonatal and fetal brain pathology
- Diet and metabolism studies
- Genetics and Neurodevelopmental Disorders
- Pharmacological Effects and Toxicity Studies
- Genomics and Rare Diseases
- Ion Transport and Channel Regulation
- Neuroscience and Neuropharmacology Research
- Digestive system and related health
- Neurological diseases and metabolism
- Bacterial Infections and Vaccines
- Neonatal and Maternal Infections
- Hereditary Neurological Disorders
- Autoimmune Neurological Disorders and Treatments
- Vascular Tumors and Angiosarcomas
- Peripheral Nerve Disorders
- Botulinum Toxin and Related Neurological Disorders
- Genomic variations and chromosomal abnormalities
- Nerve Injury and Rehabilitation
- Cardiac Structural Anomalies and Repair
- Adolescent and Pediatric Healthcare
- Cardiovascular Syncope and Autonomic Disorders
- Vitamin K Research Studies
- Functional Brain Connectivity Studies
Sheffield Children's Hospital
2014-2024
Sheffield Children's NHS Foundation Trust
2017-2024
National Health Service
2020-2024
University of Malaya
2023
King's College London
2023
Filadelfia
2023
University of Copenhagen
2023
Hospices Civils de Lyon
2018
Centre de Recherche en Neurosciences de Lyon
2018
Hôpital Femme Mère Enfant
2018
Migrating partial seizures of infancy, also known as epilepsy infancy with migrating focal seizures, is a rare early infantile epileptic encephalopathy poor prognosis, presenting in the first year life. A national surveillance study was undertaken conjunction British Paediatric Neurology Surveillance Unit to further define clinical, pathological and molecular genetic features this disorder. Fourteen children were reported during 2 period (estimated prevalence 0.11 per 100,000 children). The...
To characterize the phenotypic spectrum, molecular genetic findings, and functional consequences of pathogenic variants in early-onset
EXamining everolimus In a Study of Tuberous sclerosis 3 (EXIST-3) demonstrated significantly reduced seizure frequency (SF) with vs placebo. this study, we evaluate the long-term efficacy and safety for tuberous complex (TSC)-associated treatment-refractory seizures.After completion core phase, patients could enter an open-label extension phase receive (target exposure, 3-15 ng/mL) ≥48 weeks. Efficacy end points included change from baseline in average weekly SF expressed as response rate...
Many infancy-onset epilepsies have poor prognosis for seizure control and neurodevelopmental outcome. Ketogenic diets can improve seizures in children older than 2 years adults who are unresponsive to antiseizure medicines. We aimed establish the efficacy of a classic ketogenic diet at reducing frequency compared with further medicine infants drug-resistant epilepsy.
Abstract Objective We aimed to describe the extent of neurodevelopmental impairments and identify genetic etiologies in a large cohort patients with epilepsy myoclonic atonic seizures (MAE). Methods deeply phenotyped MAE for features, intellectual disability, autism spectrum disorder, attention‐deficit/hyperactivity disorder using standardized neuropsychological instruments. performed exome analysis (whole sequencing) filtered on neuropsychiatric gene sets etiologies. Results analyzed 101...
Abstract Background Paroxysmal movement disorders are common in Glut1 deficiency syndrome (Glut1DS). Not all patients respond to or tolerate ketogenic diets. Objectives The objective was evaluate the effectiveness and safety of triheptanoin reducing frequency disabling with Glut1DS not receiving a diet. Methods UX007G‐CL301 randomized, double‐blind, placebo‐controlled, phase 3 crossover study. After 6‐week run‐in, eligible were randomized 1:1 first sequence (triheptanoin/placebo...
This retrospective chart review study (GWEP20052) evaluated plant-derived highly purified cannabidiol (CBD; Epidyolex®; 100 mg/mL oral solution) use without clobazam as add-on therapy in patients aged ≥2 years with Lennox-Gastaut syndrome (LGS) or Dravet (DS) enrolled a European Early Access Program.Data were extracted from patient charts covering period starting 3 months before CBD treatment and concluding after 12 of treatment, sooner if discontinued started clobazam.Of 114 patients, data...
Charcot-Marie-Tooth (CMT) disease is genetically heterogeneous and subdivided into demyelinating (CMT 1) axonal 2) types based on neurophysiology findings. CMT1A, the commonest form associated with duplication of PMP22 segment chromosome 17p, often arises in childhood but generally a slowly progressive disease. We report 2 children presenting clinical features an acute inflammatory polyneuropathy (AIDP) who were subsequently diagnosed underlying CMT1A. Both had histopathology consistent...
Congenital brachial plexus palsy (CBPP) usually occurs secondarily to intrapartum trauma, but this is not always the case. Cervical ribs have previously been reported increase risk of CBPP in association with birth trauma. We report cases two children (one female, one male) congenital lower whom presence non-ossified cervical was only identified factor. In female child magnetic resonance imaging (MRI) brain, spinal cord, and revealed no abnormality except for bilateral at level seventh (C7)...
ABSTRACT Accurate diagnosis of a distinct epilepsy syndrome is based on well‐defined electroclinical features that differentiate separate nosological entities. In clinical practice, however, syndromes may overlap and cases present with unusual manifestations posing diagnostic challenge. This heterogeneity has been documented in several presenting eyelid myoclonia or without absences (EMA) diagnosed either as Jeavons (JS) variants genetic generalised epilepsies defined by the presence this...
WDR45 gene‐associated neurodegeneration with brain iron accumulation (NBIA), referred to as beta‐propeller protein‐associated (BPAN), is a rare disorder that presents very nonspecific clinical phenotype in children constituting global developmental delay. This case report illustrates the power of combination trio exome sequencing, silico splicing analysis, and mRNA analysis provide sufficient evidence for pathogenicity relatively intronic variant , so doing, find genetic diagnosis 6‐year‐old...
Ring chromosome 20 syndrome (r(20)) is an ultra-rare disease characterized by drug-refractory epilepsy, cognitive impairment, and behavioral problems. Nonpharmacological treatments alongside antiepileptic drugs early after diagnosis may help reduce seizure frequency preserve cognition. Ketogenic dietary therapy (KDT) has benefitted children with complex, refractory epilepsies, but its efficacy in r(20) unknown. We assessed clinical prescription, implementation, patient experience of KDT...
Background Many infancy-onset epilepsies have a poor prognosis for seizure control and neurodevelopmental outcome. Ketogenic diets can improve seizures in older children adults unresponsive to antiseizure medicines. We aimed determine the effectiveness of ketogenic diet reducing frequency compared further medicine infants with drug-resistant epilepsy. Methods In this randomised, open-label trial, 136 epilepsy, aged 1–24 months, > 4 seizures/week previous trial ≥ 2 medicines were recruited...
Abstract Our series Prescribing in children gives practical advice for successful management of childhood problems general practice. Here, the authors discuss current approaches to diagnosis and treatment epilepsy children. Copyright © 2007 Wiley Interface Ltd
<h3>Objectives</h3> Epilepsy has been recognised as the most common chronic neurological condition in Paediatric age group affecting 112, 000 UK.¹ Transition healthcare is a major milestone for young person (YP) and families. The NICE quality standard (QS140) recommends starting planning transition early 13–14yrs complex health conditions.² 12 (2021) dedicated adult paediatric epilepsy nurse (EN) to co-ordinate smooth every trust.<sup>4</sup> We audited our practice against standards (QS)....