Biomedical subjects

Colin Ferrie

Publications and source records attributed to Colin Ferrie.

4 recordsLinked to original sources

PubMed2006

Panayiotopoulos syndrome: a consensus view.

The aim of this paper is to promote the correct classification of, and provide guidelines on, the diagnosis and management of Panayiotopoulos syndrome (PS). An international consortium of established researchers in the field collaborated to produce a consensus document. The resulting document defines PS, characterizes its electro-clinical features, considers its likely pathogenesis, and provides guidance on appropriate management. We conclude that PS is a common idiopathic, benign seizure disorder of childhood, which should be classified as an autonomic epilepsy, rather than an occipital epilepsy.

Child↗

PubMed2005

Symptoms of narcolepsy in children misinterpreted as epilepsy.

Differentiating an epileptic seizure from some other paroxysmal event is a common challenge in clinical practice. Many paroxysmal events mimic epileptic seizures and misdiagnosis can have disastrous consequences. Incorrectly identifying an event as an epileptic seizure can lead to unnecessary investigations and instigation of inappropriate treatment regimes. We report five patients referred to regional Paediatric Neuroscience Centres for investigation of events initially suspected of being epileptic seizures. All five patients were subsequently diagnosed as having narcolepsy. Suspected diagnoses were absence epilepsy (four patients), generalized epilepsy with astatic seizures (two patients) and focal epileptic seizures (two patients). Diagnostic confusion arose because lack of responsiveness due to excessive sleepiness was mistaken for epileptic absences, and cataplexy was confused with a variety of seizure types. In each case, videotape recording of clinical events aided in making the diagnosis of cataplexy. At presentation, all five children had excessive daytime sleepiness with cataplexy. Following correct diagnosis and appropriate management, an improvement in symptoms was reported in all cases. Narcolepsy/cataplexy should be included in the differential diagnoses of paroxysmal disorders, particularly if there are associated sleep symptoms or behavioural difficulties. It is important to take a sleep history when evaluating any disorder of the central nervous system.

Attention Deficit Disorder with Hyperactivity↗

PubMed2005

Nonconvulsive status epilepticus: Epilepsy Research Foundation workshop reports.

In April 2004, a group of physicians with an interest in nonconvulsive status epilepticus representing a spectrum of opinion met in Oxford, sponsored by the Epilepsy Research Foundation (a charitable organization), to discuss and debate the definition, diagnosis and treatment of nonconvulsive status epilepticus. We felt that such a meeting would be useful, as nonconvulsive status epilepticus is a subject that provokes strong reactions, perhaps largely due to the relative lack of evidence and the surfeit of opinion. The meeting was arranged such that there were formal talks followed by a discussion led by one of the attendees. We present here the extended abstracts of the main talks with the points raised by the discussants. Despite disagreements on certain issues there was much in the way of consensus. First, it was agreed that nonconvulsive status epilepticus is a term that covers a range of disparate conditions with varying prognoses and treatments. The agreed definition was thus suitably vague, A< >. Secondly, it was agreed that even within a specific condition (e.g. complex partial status epilepticus), the prognosis and treatment depends upon the context in which the condition occurs (e.g. in the critically ill, in coma, in the A< > and in people with prior epilepsy). Perhaps, most importantly it was agreed that we lacked good clinical data, and the challenge was to design good studies for a condition that is underrecognised and often difficult to diagnose.

Brain Damage, Chronic↗

PubMed2002

Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q.

Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by onset of typical absence seizures in otherwise normal children of school age. A genetic component to aetiology is well established but the mechanism of inheritance and the genes involved are unknown. Available evidence suggests that mutations in genes encoding GABA receptors or brain expressed voltage-dependent calcium channels (VDCCs) may underlie CAE. The aim of this work was to test this hypothesis by linkage analysis using microsatellite loci spanning theses genes in 33 nuclear families each with two or more individuals with CAE. Seventeen VDCC subunit genes, ten GABA(A)R subunit genes, two GABA(B) receptor genes and the ECA1 locus on 8q24 were investigated using 35 microsatellite loci. Assuming locus homogeneity, all loci gave statistically significant negative LOD scores, excluding these genes as major loci in the majority of these families. Positive HLOD scores assuming locus heterogeneity were observed for CACNG3 on chromosome 16p12-p13.1 and the GABRA5, GABRB3, GABRG3 cluster on chromosome 15q11-q13. Association studies are required to determine whether these loci are the site of susceptibility alleles in a subset of patients with CAE.

Calcium Channels↗