A5069341629- Epilepsy research and treatment
- Infectious Encephalopathies and Encephalitis
- RNA regulation and disease
- Autoimmune Neurological Disorders and Treatments
- Genomics and Rare Diseases
- RNA modifications and cancer
- Neurological disorders and treatments
- Genetics and Neurodevelopmental Disorders
- Pharmacological Effects and Toxicity Studies
- Viral Infections and Immunology Research
- Bacterial Infections and Vaccines
- Peripheral Neuropathies and Disorders
- RNA Research and Splicing
- Cytomegalovirus and herpesvirus research
- Metabolism and Genetic Disorders
- Neuroscience and Neural Engineering
- Tracheal and airway disorders
- Cardiac pacing and defibrillation studies
- Lysosomal Storage Disorders Research
- Ion channel regulation and function
- Neurological and metabolic disorders
- Pediatric health and respiratory diseases
- Neonatal Respiratory Health Research
- Respiratory viral infections research
- Hereditary Neurological Disorders
University College London
2015-2025
Great Ormond Street Hospital
2015-2025
Great Ormond Street Hospital for Children NHS Foundation Trust
2016-2024
Shaare Zedek Medical Center
2023
University of Oxford
2023
The University of Western Australia
2023
Science and Technology Facilities Council
2023
Leeds Teaching Hospitals NHS Trust
2017
Boston Children's Hospital
2012-2013
St George's Hospital
2012
Abstract Febrile‐infection related epilepsy syndrome (FIRES) is a devastating neurological condition characterized by febrile illness preceding new onset refractory status epilepticus (NORSE). Increasing evidence suggests innate immune dysfunction as potential pathological mechanism. We report an international retrospective cohort of 25 children treated with anakinra, recombinant interleukin‐1 receptor antagonist, immunomodulator for FIRES. Anakinra was potentially safe only one child...
Through the agnostic screening of patients with uncharacterised disease phenotypes for an upregulation type I interferon (IFN) signalling, we identified a cohort individuals heterozygous mutations in PTPN1, encoding protein-tyrosine phosphatase 1B (PTP1B). We aimed to describe clinical phenotype and molecular cellular pathology this new disease. In case series, collected neuroradiological data through collaboration paediatric neurology genetics colleagues across Europe (Czechia, France,...
Abstract KIF1A ‐related disorders (KRD) were first described in 2011 and the phenotypic spectrum has subsequently expanded to encompass a range of central peripheral nervous system involvement. Here we present case series demonstrating clinical, neurophysiological, radiological features which may occur childhood‐onset KRD. We report on all children young people seen at single large tertiary centre. Data collected through retrospective case‐notes review. Twelve individuals from 10 families...
Febrile infection-related epilepsy syndrome (FIRES) is a rare catastrophic epileptic encephalopathy that presents suddenly in otherwise normal children and young adults causing significant neurological disability, chronic epilepsy, high rates of mortality. To suggest therapy protocol to improve outcome FIRES, workshops were held conjunction with American Epilepsy Society annual meeting between 2017 2019. An international group pediatric epileptologists, neurointensivists, rheumatologists...
Routine childhood vaccination against measles, mumps and rubella has virtually abolished virus-related morbidity mortality. Notwithstanding this, we describe here devastating neurological complications associated with the detection of live-attenuated virus Jeryl Lynn (MuVJL5) in brain a child who had undergone successful allogeneic transplantation for severe combined immunodeficiency (SCID). This is first confirmed report MuVJL5 chronic encephalitis highlights need to exclude immunodeficient...
RNA modifications play a fundamental role in cellular function. Pseudouridylation, the most abundant modification, is catalyzed by H/ACA small ribonucleoprotein (snoRNP) complex that shares four core proteins, dyskerin (DKC1), NOP10, NHP2, and GAR1. Mutations DKC1 , NOP10 or NHP2 cause dyskeratosis congenita (DC), disorder characterized telomere attrition. Here, we report phenotype comprising nephrotic syndrome, cataracts, sensorineural deafness, enterocolitis, early lethality two pedigrees:...
FITM2 encodes fat-storage inducing transmembrane protein 2 (FIT2), a lipid diphosphatase in the ER that cleaves acyl-CoAs and is crucial for homeostasis. In humans, homozygous null mutations are associated with syndrome characterized by deafness dystonia. Here, we report two families hereditary spastic paraplegia (HSP) whom exome sequencing revealed compound heterozygosity mutations. each family, affected probands carry one putative allele G100R missense allele. Functional analyses...
Abstract Background Neurodevelopmental disorders (NDDs) are heterogeneous, debilitating conditions that include motor and cognitive disability social deficits. The genetic factors underlying the complex phenotype of NDDs remain to be elucidated. Accumulating evidence suggest Elongator plays a role in NDDs, given patient-derived mutations its ELP2, ELP3, ELP4 ELP6 subunits have been associated with these disorders. Pathogenic variants largest subunit ELP1 previously found familial...
To determine whether multiple subpial transection in the posterior temporal lobe has an impact on long-term outcome children who have drug-resistant Landau-Kleffner syndrome (LKS) or other "electrical status epilepticus during sleep" (ESES)-related regression. Given wide variability outcomes reported literature, a secondary aim was to explore predictors of outcome.The current study includes surgery group (n = 14) comprising patients underwent and nonsurgery comparison 21) presurgical...
Acute recurrent/chronic pancreatitis (CP) is a complex multigenic disease. This case–control study consisting of 25 Greek patients with CP and control population 236 healthy subjects. The whole coding area neighboring intronic regions the three genes were screened. Seventeen (68%) had mutations in cystic fibrosis transmembrane conductance regulator ( CFTR ) gene: nine compound heterozygotes either mild or severe eight heterozygotes. Four (16%) carried CFTR‐modulating haplotypes V470‐TG11‐T5...
To describe the clinical presentation, investigations, management, and disease course in pediatric autoimmune limbic encephalitis (LE).In this retrospective observational study, from UK Childhood Neuroinflammatory Disease network, we identified children six tertiary centers with LE <18 years old between 2008 2021. Clinical paraclinical data were retrieved medical records.Twenty-five fulfilling criteria identified, median age of 11 (IQR 8, 14) follow-up 24 months 18, 48). All presented...
Pathogenic
We describe a novel, severe autoinflammatory syndrome characterized by neuroinflammation, systemic autoinflammation, splenomegaly, and anemia (NASA) caused bi-allelic mutations in IRAK4 . IRAK-4 is serine/threonine kinase with pivotal role innate immune signaling from toll-like receptors production of pro-inflammatory cytokines. In humans, result deficiency increased susceptibility to pyogenic bacterial infections, but autoinflammation has never been described. 5 affected patients 2...
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Purpose: Osteoarthritis (OA) is characterized by focal areas of loss articular cartilage in synovial joints, associated with varying degrees osteophyte formation, subchondral bone change, and synovitis. The Calmodulin 1 gene (CALM1) encodes for a ubiquitous eukaryotic Ca2+ binding protein the principal mediator calcium signal. thus affects chondrocyte's response to mechanical load. A functional core promoter single nucleotide polymorphism (SNP) −16C/T (rs12885713) was recently hip OA (HOA)...
Krabbe’s disease (KD) and metachromatic leucodystrophy (MLD) are both lysosomal storage disorders that share some common MRI features. Amongst the imaging findings useful to distinguish one from other, optic chiasm/nerves thickening have been described as specific key features for differential diagnosis favouring KD. We report first case of enlargement nerves chiasm in a patient with genetically confirmed MLD.
Abstract DEPDC5 (DEP Domain-Containing Protein 5) encodes an inhibitory component of the mammalian target rapamycin (mTOR) pathway and is commonly implicated in sporadic familial focal epilepsies, both non-lesional association with cortical dysplasia. Germline pathogenic variants are typically heterozygous inactivating. We describe a novel phenotype caused by germline biallelic missense DEPDC5. Cases were identified clinically. Available records, including magnetic resonance imaging...