A5069307460- Epilepsy research and treatment
- Genetic Neurodegenerative Diseases
- Ion channel regulation and function
- Pharmacological Effects and Toxicity Studies
- Neuroscience and Neuropharmacology Research
- Cardiac electrophysiology and arrhythmias
- Genetics and Neurodevelopmental Disorders
- Myasthenia Gravis and Thymoma
- Mitochondrial Function and Pathology
- Peripheral Neuropathies and Disorders
- Glycogen Storage Diseases and Myoclonus
- Muscle Physiology and Disorders
- Metabolism and Genetic Disorders
- Neurological disorders and treatments
- Genomics and Rare Diseases
- Ion Transport and Channel Regulation
- Migraine and Headache Studies
- Neurology and Historical Studies
- Systemic Lupus Erythematosus Research
- CNS Lymphoma Diagnosis and Treatment
- Neurogenetic and Muscular Disorders Research
- Vascular Malformations Diagnosis and Treatment
- Central Venous Catheters and Hemodialysis
- Genetics and Physical Performance
- Neonatal and fetal brain pathology
National Hospital for Neurology and Neurosurgery
2013-2024
University College London
2013-2024
North Middlesex Hospital
2017-2024
University College London Hospitals NHS Foundation Trust
2020-2024
North Middlesex University Hospital NHS Trust
2020-2024
University College Hospital
2020-2024
Middlesex University
2017-2023
Epilepsy Society
2021-2022
King's College Hospital
2015
MRC Prion Unit
2010-2015
Abstract Reports of Guillain-Barré syndrome (GBS) have emerged during the Coronavirus disease 2019 (COVID-19) pandemic. This epidemiological and cohort study sought to investigate any causative association between COVID-19 infection GBS. The epidemiology GBS cases reported UK National Immunoglobulin Database was studied from 2016 compared Data were stratified by hospital trust region, with numbers per month. population data for collated public health bodies. In parallel, but separately,...
Mutations in CACNA1A, which encodes the principal subunit of P/Q calcium channel, underlie episodic ataxia type 2 (EA2). In addition, some patients with complicated by epilepsy have been shown to harbour CACNA1A mutations, raising possibility that channel dysfunction may be linked human epilepsy. We undertook a review all published EA2 cases and this showed 7% epilepsy--representing sevenfold increased risk compared background population (P<0.001). also studied series 17 individuals...
To improve the accuracy of genotype prediction and guide genetic testing in patients with muscle channelopathies we applied refined specialized electrophysiological exercise test parameters.We studied 56 genetically confirmed 65 controls using needle electromyography, long test, short tests at room temperature, after cooling, rewarming.Concordant amplitude-and-area decrements were more reliable than amplitude-only measurements when interpreting patterns change during tests. Concordant...
In England, nearly a quarter of people with intellectual disability (PwID) have epilepsy. Though 70 % PwID pharmaco-resistant seizures only 10 are prescribed anti-seizure medication (ASMs) licenced for pharmaco-resistance. Brivaracetam (BRV) in 2016 has had nine post-marketing studies involving PwID. These limited either by lack controls or not looking at outcomes based on differing levels ID severity. This study looks evidence comparing effectiveness and side-effects to those without (BRV).
Episodic ataxia type 2 (EA2) and familial hemiplegic migraine 1 (FHM1) are autosomal dominant disorders characterised by paroxysmal migraine, respectively. Point mutations in CACNA1A, which encodes the neuronal P/Q-type calcium channel, have been detected many cases of EA2 FHM1. The genetic basis typical without CACNA1A point is not fully known. Standard DNA sequencing methods may miss large scale rearrangements such as deletions duplications. authors investigated whether can cause FHM1.The...
<h3>Background and objective</h3> Heterozygous mutations in <i>KCNA1</i> cause episodic ataxia type 1 (EA1), an ion channel disorder characterised by brief paroxysms of cerebellar dysfunction persistent neuromyotonia. This paper describes four previously unreported families with EA1, the aim understanding phenotypic spectrum associated different mutations. <h3>Methods</h3> 15 affected individuals from underwent clinical, genetic neurophysiological evaluation. The functional impact new...
Mutations in the nuclear gene POLG (encoding catalytic subunit of DNA polymerase gamma) are an important cause mitochondrial disease. The most common mutation, A467T, appears to exhibit considerable phenotypic heterogeneity. mechanism by which this single genetic defect results such clinical diversity remains unclear. In study we evaluate clinical, neuropathological and features four unrelated patients with homozygous A467T mutations. One patient presented severe lethal Alpers-Huttenlocher...
Abstract With the rising demand for ketogenic diet therapy in adult epilepsy, there is a need research describing real-life effectiveness, retention, and safety of relevant services. In this 1-year prospective cohort study we present outcomes first 100 referrals modified (MKD) at UK’s largest tertiary-care epilepsy centre, where patients received dietetic review up to twice per week. Of referrals, 42 (31 females, 11 males; mean age 36.8 [SD ± 11.4 years]) commenced MKD, having used 4 (SD 3)...
Heterozygous mutations of KCNA1, the gene encoding potassium channel Kv1.1 subunits, cause episodic ataxia type 1 (EA1), which is characterized by paroxysmal cerebellar incoordination and interictal myokymia. Some are also associated with epilepsy. Although Kv1.1-containing channels play important roles in neuronal excitability neurotransmitter release, it not known how different clinical features affect input-output relationships individual neurons. We transduced rat hippocampal neurons,...
The hereditary cerebellar ataxias are a diverse group of neurodegenerative disorders primarily characterised by loss balance and coordination due to dysfunction the cerebellum its associated pathways. Although many genetic mutations causing inherited ataxia have been identified, significant percentage patients remain whose cause is unknown. transient receptor potential (TRP) family member TRPC3 non-selective cation channel linked key signalling pathways that affected in ataxia. Furthermore,...
Mutations in the LAMA2 gene result a complete loss of merosin and underlie severe congenital type muscular dystrophy (MDC1A).We investigated clinical, genetic, histological basis late-onset one family. The proband her affected brother exhibited predominantly proximal muscle weakness. In addition, experienced seizures. Magnetic resonance imaging brain demonstrated white-matter abnormalities. Sequencing identified two new heterozygous point mutations members. Muscle histology dystrophic...
Epilepsy prevalence is significantly higher in people with Intellectual Disability (ID) compared to epilepsy (PWE) from the general population. Increased psychological and behavioural problems, healthcare costs, morbidity, mortality treatment resistance antiepileptic drugs (AEDs) associated ID populations. Prescribing AEDs for PWE challenging influenced heavily by studies conducted Our study compares Lacosamide (LCM) response population those population; using data an UK based database...
<h3>Objective</h3> To describe the clinical and genetic findings in a family affected by neurodevelopmental delay cerebellar ataxia. <h3>Methods</h3> The mother her two children underwent assessments followed radiological, neurophysiological cytogenetic investigations. <h3>Results</h3> All three members exhibited varying degrees of attaining motor cognitive milestones, along with learning difficulties harboured new 670 kb deletion chromosome 12q21. Two genes, <i>KCNC2</i> <i>ATXN7L3B</i>,...
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