Cerebral folate deficiency: a treatable cause of late deterioration in epilepsy with developmental delay.

A 25-year-old woman with childhood-onset refractory epilepsy and developmental delay experienced a gradually progressive marked deterioration in mobility and seizure control, with language regression. Investigation identified a homozygous deletion within the contactin-associated protein-like 2 gene (), underlying her early presentation, but also cerebral folate deficiency that most likely contributed to her later deterioration. Following antiseizure medication adjustment and treatment with folinic acid, she stabilised with improved seizure control and limited improvement in language and motor function; she has remained neurologically stable for more than a decade.

Cenobamate in refractory epilepsy: Overview of treatment options and practical considerations.

Management of drug resistant epilepsy (DRE) represents a challenge to the treating clinician. This manuscript addresses DRE and provides an overview of treatment options, medical, surgical, and dietary. It addresses treatment strategies in polytherapy, then focuses on the role cenobamate (CNB) may play in reducing the burden of DRE while providing practical advice for its introduction.

Valproate-induced reversible cognitive decline presenting as dementia and associated clinical features: A literature review.

Background/aim: Valproate (VPA) is an effective broad-spectrum anti-seizure medication. Both VPA induced encephalopathy and reversible cognitive decline (VIRCD) have been reported as rare side effects. While the former is well-described in terms of risk factors, mechanism and management, the latter is less recognised and can be easily mistaken for neurodegenerative dementia.

Long-term outcome of vagus nerve stimulation for drug-resistant epilepsy using continuous assessment, with a note on mortality.

Purpose: To examine the outcome of vagus nerve stimulation (VNS) for drug-resistant epilepsy using data from a National Health Service VNS clinic.

Methods: Clinical records of patients implanted with VNS for epilepsy between1995 and 2010 were examined. Patients were selected for study who had at least one year of therapeutic stimulation (minimum 1 mA stimulator current) and follow-up by our service with analysable electronic records, providing continuous assessment of seizure control during available follow-up.

Two-center experience of cannabidiol use in adults with Dravet syndrome.

We describe real-world experience with cannabidiol (CBD) in adults with Dravet Syndrome (DS) via GW Pharma early access programme at two UK neurology centres. Adults with genetically-confirmed DS had CBD added to existing therapy, titrated up to 20 mg/kg, as tolerated. The primary outcome measure was percentage reduction in convulsive seizures.

New-onset refractory status epilepticus (NORSE).

New-onset refractory status epilepticus and its subcategory febrile infection-related epilepsy syndrome are rare devastating clinical presentations in those without pre-existing relevant history, often in schoolchildren or young adults, without a clear cause on initial investigations. A cause is later identified in up to half of adults, but in many fewer children. Patients often require protracted intensive care and are at significant risk of dying.

A 9-month retrospective evaluation of the aetiology and management of patients presenting with encephalitis/meningoencephalitis at a South London hospital.

Encephalitis causes high morbidity and mortality. An incidence of 4.3 cases of encephalitis/100 000 population has been reported in the UK.

Perampanel for the treatment of epilepsy; Longitudinal actuarial analysis and dose responses based on monthly outcomes.

Purpose: To explore the retention rates and the efficacy and tolerability of perampanel (PER) by using monthly real life data for a period of 12 months.

Methods: Longitudinal outcomes of (PER) usage were assessed using actuarial statistics in an observational nonrandomised multicentre study of 181 people with epilepsy (PWE) refractory to first and second line drugs. Graded seizure outcomes, toxicity and the dose of PER were recorded for each month.

Investigating adults with early-onset epilepsy and intellectual or physical disability.

This article focuses on investigating adults with early-onset epilepsy and intellectual or physical disability within adult neurology services. We aim to guide general neurologists in the diagnostic reassessment of people with epilepsy and complex neurological problems of unknown cause. Following an overview, we address imaging, electroencephalography, genetic studies and metabolic testing, and give examples where diagnosis directly influences treatment.

An audit of external trigeminal nerve stimulation (eTNS) in epilepsy.

Purpose: External trigeminal nerve stimulation (eTNS) is a non-invasive neurostimulation treatment for drug refractory epilepsy. There is limited published data on the efficacy of eTNS and none relating to quality of life, mood or effect on sleep quality.

Methods: We audited its use in 42 patients with drug refractory epilepsy at a tertiary centre, between 02/04/2013 and 14/08/2015.

SUDEP, the aftermath: supporting the bereaved.

Sudden unexpected death in epilepsy is a recurring calamity, yet there is little evidence to guide standards of care for supporting the bereaved. Grief in bereavement includes loss, feelings of guilt, anger and blame. There is also the shock and trauma of the sudden event.

Sudden unexpected death in epilepsy (SUDEP): what every neurologist should know.

This review aims to empower general neurologists to provide better informed person-centred advice on sudden unexpected death in epilepsy (SUDEP) to people with epilepsy in order to help keep them safe. Past and present evidence is consolidated in order to inform readers about SUDEP, and up-to-date insights into the epidemiology, diagnostic classification, pathophysiology, risk factors, influence of co-morbidity, and importance of sensitive person-centred communication are outlined. This review provides "fingertip" information to the practicing neurologist with regards to identifying and communicating risks for SUDEP and suggests practical measures for managing these risks in partnership with the patient.

Cortical excitability correlates with seizure control and epilepsy duration in chronic epilepsy.

Objective: Cortical excitability differs between treatment responders and nonresponders in new-onset epilepsy. Moreover, during the first 3 years of epilepsy, cortical excitability becomes more abnormal in nonresponders but normalizes in responders. Here, we study chronic active epilepsy, to examine whether cortical excitability continues to evolve over time, in association with epilepsy duration and treatment response.

Analysis of rare copy number variation in absence epilepsies.

Objective: To identify shared genes and pathways between common absence epilepsy (AE) subtypes (childhood absence epilepsy [CAE], juvenile absence epilepsy [JAE], and unclassified absence epilepsy [UAE]) that may indicate common mechanisms for absence seizure generation and potentially a diagnostic continuum.

Methods: We used high-density single-nucleotide polymorphism arrays to analyze genome-wide rare copy number variation (CNV) in a cohort of 144 children with AEs (95 CAE, 26 UAE, and 23 JAE).

Results: We identified CNVs that are known risk factors for AE in 4 patients, including 3x 15q11.

Sneddon's syndrome: it is all in the ectoderm.

A 51-year-old man gave a 2-year history of worsening mobility, cognitive decline and headaches. He had a history of thromboembolic stroke, recurrent transient ischaemic attacks and a spontaneous intraventricular haemorrhage. On examination, he had livedo reticularis and perniosis and a systolic murmur.

After sudden unexpected death in epilepsy: Lessons learned and the road forward.

The devastating effects of sudden unexpected death in epilepsy (SUDEP) can be difficult to navigate, even for experienced clinicians. Mounting evidence supports full disclosure of the risks of epilepsy to those affected and their caregivers, and recommendations from regulatory and professional groups encourage the same. Following a death, families are faced with tragedy, guilt, and sometimes anger.

Introduction-Epilepsy Research UK expert workshop 2014: SUDEP: Time for prevention-evidence and clinical translation Proceedings from the Epilepsy Research UK 2014 Expert Workshop.

We offer Epilepsia readers this supplement based on the proceedings of an international workshop on sudden death in epilepsy (SUDEP) held in 2014 at St Anne's College at Oxford and hosted by Epilepsy Research UK (ERUK). This is the second Epilepsia supplement dedicated to SUDEP and its focus is on prevention. As workshop co-chairs, in this introduction we outline why we believe we are on the threshold of a new era of prevention in SUDEP.

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy.

Sudden unexpected death in epilepsy (SUDEP) represents the most severe degree of the spectrum of epilepsy severity and is the commonest cause of epilepsy-related premature mortality. The precise pathophysiology and the genetic architecture of SUDEP remain elusive. Aiming to elucidate the genetic basis of SUDEP, we analysed rare, protein-changing variants from whole-exome sequences of 18 people who died of SUDEP, 87 living people with epilepsy and 1479 non-epilepsy disease controls.

Epilepsy: Intriguing new data on epilepsy and risks at delivery.

A large study from the USA suggests that epilepsy in pregnant women elevates the risk of adverse events both to the mother and the fetus, including an 11-fold increase in the risk of death of the mother at delivery. Although the data are intriguing, the study has caveats that call for cautious interpretation.