Classic ketogenic diet versus further antiseizure medicine in infants with drug-resistant epilepsy (KIWE): a UK, multicentre, open-label, randomised clinical trial.

Background: Many infancy-onset epilepsies have poor prognosis for seizure control and neurodevelopmental outcome. Ketogenic diets can improve seizures in children older than 2 years and adults who are unresponsive to antiseizure medicines. We aimed to establish the efficacy of a classic ketogenic diet at reducing seizure frequency compared with further antiseizure medicine in infants with drug-resistant epilepsy.

MOGS-CDG: Quantitative analysis of the diagnostic Glc Man tetrasaccharide and clinical spectrum of six new cases.

Congenital disorders of glycosylation (CDG) are a clinically and biochemically heterogeneous subgroup of inherited metabolic disorders. Most CDG with abnormal N-glycosylation can be detected by transferrin screening, however, MOGS-CDG escapes this routine screening. Combined with the clinical heterogeneity of reported cases, diagnosing MOGS-CDG can be challenging.

The metformin in tuberous sclerosis (MiTS) study: A randomised double-blind placebo-controlled trial.

Background: Tuberous Sclerosis Complex (TSC) is a genetic disorder characterised by the development of benign tumours secondary to loss of inhibitory regulation of the mTOR (mechanistic Target of Rapamycin) intracellular growth pathway. Metformin inhibits the mTOR pathway. We investigated whether metformin would reduce growth of hamartomas associated with tuberous sclerosis complex.

Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.

Objective: To explore the phenotypic spectrum of -related disorders and specifically to determine whether patients fulfill criteria for alternating hemiplegia of childhood (AHC), we report the clinical features of 11 affected individuals.

Methods: Individuals with -related disorders were identified through a movement disorder clinic at a specialist pediatric center, with additional cases identified through collaboration with other centers internationally. Clinical data were acquired through retrospective case-note review.

Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene.

Objective: To report a series of patients with cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma () gene and examine the functional role of the identified mutant Cbl protein. We hypothesized that mutated Cbl fails to act as a negative regulator of the RAS-mitogen-activated protein kinases (MAPK) signaling pathway, resulting in enhanced vascular fibroblast proliferation and migration and enhanced angiogenesis and collateral vessel formation.

Methods: We performed whole-exome sequencing in 11 separate families referred to Great Ormond Street Hospital, London, with suspected genetic cause for clinical presentation with severe progressive cerebral arteriopathy.

Quality of life in patients with Tuberous Sclerosis Complex (TSC).

Background: The quality of life (QoL) of patients with Tuberous Sclerosis Complex (TSC) has not been studied before. We aimed to investigate the impact of the disease on QoL. We studied the QoL of 91 TSC patients who have attended the Bath TSC clinic, UK over 6 months.

Seeking normality: Parents' experiences of childhood stroke.

Background: Incidence of paediatric stroke has been estimated to range from 1.2 to 13 per 100,000 children under 18 years of age. It is a significant cause of long-term morbidity in children with long-term impacts on physical, cognitive, psychological, and social outcomes.

Self-reported needs after pediatric stroke.

Background: Pediatric stroke has the potential for long term impact on the lives of children and their families. Child-centred intervention depends on understanding of needs from diagnosis onwards. However, little is known about the health and care support self-reported needs of this population.

Immunotherapy for arterial ischaemic stroke in childhood: a systematic review.

Background: There is little evidence about either prevention or treatment of childhood arterial ischaemic stroke (AIS). However, drugs that regulate the immune and inflammatory response could theoretically prevent occurrence or recurrence of AIS. Additionally, as an acute treatment, they may limit the neurological damage caused by AIS.

Outcome and recurrence 1 year after pediatric arterial ischemic stroke in a population-based cohort.

Objective: Arterial ischemic stroke (AIS) is an important cause of acquired brain injury in children. Few prospective population-based studies of childhood AIS have been completed. We aimed to investigate the outcome of childhood AIS 12 months after the event in a population-based cohort.

Diagnostic delays in paediatric stroke.

Background: Stroke is a major cause of mortality in children. Conditions that mimic stroke also cause severe morbidity and require prompt diagnosis and treatment. We have investigated the time to diagnosis in a cohort of children with stroke.

Childhood arterial ischaemic stroke incidence, presenting features, and risk factors: a prospective population-based study.

Background: Arterial ischaemic stroke is an important cause of acquired brain injury in children. Few prospective population-based studies of childhood arterial ischaemic stroke have been undertaken. We aimed to investigate the epidemiology and clinical features of childhood arterial ischaemic stroke in a population-based cohort.

Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations.

Aim: To define better the phenotype and genotype of familial and sporadic cases of paroxysmal kinesigenic dyskinesia (PKD) caused by mutations in the PRRT2 gene presenting in the paediatric age group.

Method: We report the detailed clinical and molecular genetic features of 11 patients (six females, five males) with childhood-onset PRRT2-mutation-positive PKD.

Results: Mean age at disease onset was 8 years 7.

Evaluation and management of bone health in children with epilepsy on long-term antiepileptic drugs: United Kingdom survey of paediatric neurologists.

Background And Objective: Current evidence indicates long-term use of antiepileptic drugs (AEDs) is associated with impaired childhood bone health. The objective of this study was to ascertain the current clinical practice of paediatric neurologists managing children with epilepsy on long-term (>2 years) AED therapy, particularly against the UK Medicines and Healthcare products Regulatory Agency (MHRA) current recommendation of vitamin D supplementation in patients on long-term AEDs at-risk of impaired bone health.

Methods: An internet-based survey of UK paediatric neurologists who routinely see children with epilepsy (n = 95) covered clinicians' epilepsy case-load and reflection on their current clinical practice with estimation of the frequency with which they considered various bone health issues.

Risk factors and treatment outcomes of childhood stroke.

Stroke is an important cause of childhood mortality and morbidity. The risk factors and pathophysiological processes of stroke in children are very different than those in adults. The range of risk factors is very wide, with over 100 presumptive risk factors described.

The epidemiology of childhood stroke.

This paper reviews the epidemiology of childhood stroke. Stroke is an important condition in children. It is one of the top ten causes of childhood death and there is a high risk of serious morbidity for the survivors.

Research governance delays for a multicentre non-interventional study.

Objectives: To evaluate the delay in research governance approval for a non-interventional, multicentre study in the United Kingdom.

Design: The times taken from application to the granting of research governance approval for an observational study of childhood stroke with ethical approval were prospectively recorded.

Setting: Ninety-two acute NHS Trusts in the United Kingdom.