Phil E M Smith
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A synonymous<i>SLC2A1</i>variant causes familial epilepsy and paroxysmal exercise-induced dyskinesia by creating aberrant mosaic splicing patterns Open
Background Glucose transporter type-1 deficiency syndrome (GLUT1-DS) arises from variants in the SLC2A1 gene encoding the glucose transporter type-1 (GLUT1). Genetic analysis of a GLUT1-DS family identified a recurrent heterozygous synonym…
Machine-learning algorithms for the identification of visual field loss associated with the antiseizure medication vigabatrin—a proof of concept Open
Background/aims The antiseizure medication, vigabatrin, is associated with visual field loss (VAVFL). However, the fields can be challenging to interpret due to unfamiliarity with the characteristics of the defect and/or to difficulty in o…
View article: Polyepitaxial grain matching to study the oxidation of uranium dioxide
Polyepitaxial grain matching to study the oxidation of uranium dioxide Open
Although the principal physical behaviour of a material is inherently connected to its fundamental crystal structure, the behaviours observed in the real-world are often driven by the microstructure, which for many polycrystalline material…
Towards Refined Autism Screening: A Fuzzy Logic Approach with a Focus on Subtle Diagnostic Challenges Open
This study explores the creation and testing of a Fuzzy Inferencing System for automating preliminary referrals for autism diagnosis, utilizing membership functions aligned with the Autism Quotient 10-item questionnaire. Validated across t…
View article: Polyepitaxial grain matching to study the oxidation of uranium dioxide
Polyepitaxial grain matching to study the oxidation of uranium dioxide Open
Although the principal physical behaviour of a material is inherently connected to its fundamental crystal structure, the behaviours observed in the real-world are often driven by the microstructure, which for many polycrystalline material…
Therapeutic potential of the endocannabinoid system to treat chronic pain in inflammatory disease Open
Therapeutic potential of the endocannabinoid system to treat chronic pain in inflammatory disease Pharma researchers Julie Blaising and Philip Smith from F. Hoffmann-La Roche Ltd. discuss the endocannabinoid system as a pathway to treat in…
General neurology: Current challenges and future implications Open
Background and purpose In the coming decades, the world will face an increasing burden of neurological disorders (ND) and an urgent need to promote brain health. These challenges contrast with an insufficient neurological workforce in most…
Highlights from this issue Open
In the past, human violence was associated with food shortage, but recently it has increased even in relatively well-fed societies. The reason appears from studies of monkeys under relaxed, spacious conditions and under crowding stress. Un…
Lamotrigine versus levetiracetam or zonisamide for focal epilepsy and valproate versus levetiracetam for generalised and unclassified epilepsy: two SANAD II non-inferiority RCTs Open
Background Levetiracetam (Keppra ® , UCB Pharma Ltd, Slough, UK) and zonisamide (Zonegran ® , Eisai Co. Ltd, Tokyo, Japan) are licensed as monotherapy for focal epilepsy, and levetiracetam is increasingly used as a first-line treatment for…
Study protocol for a pragmatic randomised controlled trial comparing the effectiveness and cost-effectiveness of levetiracetam and zonisamide versus standard treatments for epilepsy: a comparison of standard and new antiepileptic drugs (SANAD-II) Open
Introduction Antiepileptic drugs (AEDs) are the mainstay of epilepsy treatment. Over the past 20 years, a number of new drugs have been approved for National Health Service (NHS) use on the basis of information from short-term trials that …
Highlights of the issue Open
‘Heuristic’ is the kind of word we generally avoid in Practical Neurology . It’s not that the word is not useful, rather it is a bit recherche. And one of the coeditors is forever forgetting exactly what it means and thinks some readers ma…
Objective derivation of the morphology and staging of visual field loss associated with long-term vigabatrin therapy Open
Video 1: Video of the rolling median of the 78 modelled fields from the 87 individuals who had been exposed to vigabatrin and who had undertaken the Full Field 135 Point Test with the three zone age-corrected strategy. Video 2: Video of th…
Adherence and persistence to oral medication in patients with overactive bladder (OAB) in a real-world setting – a systematic literature review. Open
Purpose To evaluate persistence and adherence of oral pharmacotherapy used in the treatment of overactive bladder (OAB) in a real-world setting. Materials and methods Systematic literature searches of six electronic publication databases w…