A novel missense mutation (N258S) in the KCNQ2 gene in a Turkish family afflicted with benign familial neonatal convulsions (BFNC)

Benign familial neonatal convulsions (BFNC) is a rare monogenic subtype of idiopathic epilepsy exhibiting autosomal dominant mode of inheritance. The disease is caused by mutations in the two homologous genes KCNQ2 and KCNQ3 that encode the subunits of the voltage-gated potassium channel. Most KCNQ2 mutations are found in the pore region and the cytoplasmic C domain. These mutations are either deletions/insertions that result in frameshift or truncation of the protein product, splice-site variants or missense mutations. This study reveals a novel missense mutation (N258S) in the KCNQ2 gene between the S5 domain and the pore of the potassium channel in two BFNC patients in a Turkish family. The absence of the mutation both in the healthy members of the family and in a control group, and the lack of any other change in the KCNQ2 gene of the patients indicate that N258S substitution is a pathogenic mutation leading to epileptic seizures in this family

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.</p

NOT ALL SPELLS ARE EPILEPTIC IN DEVASTATING NEUROLOGICAL DISORDERS: BREATH-HOLDING SPELLS IN INFANTILE NEUROAXONAL DYSTROPHY

Breath-holding spells are episodes of brief involuntary cessations of breathing that occur in children in response to stimuli such as fear or injury. They are usually benign, and although very rarely, breath-holding spells accompany deteriorative neurological diseases

Visually evoked startle response in a patient with epilepsy: a case report and review of the literature

Both symptomatic and genetic, cases with hyperekplexia or startle seizures induced by acoustic stimuli, are previously reported. By contrast, startle response induced by visual stimuli is rare. While visual stimuli are more commonly associated with startle seizures, here we present an 11-year-old girl with epilepsy, motor-mental retardation, and spastic tetraparesis, who had repetitive startle responses by photic stimulation during the electroencephalogram recording, without any spike-and-wave discharges associated with the startles. We report this unique case with startle responses induced both by acoustic and photic stimuli and review the literature related to this exceptionally rare combination of symptoms

A study on visual evoked responses in childhood epilepsy with occipital paroxysms

AbstractAs some apparently idiopatic epilepsies may occasionally pose diagnostic difficulties in regard to their precise status of etiology, evoked potentials, particularly visual evoked potential (VEP), may contribute to the diagnosis of childhood epilepsy with occipital paroxysms (CEOP) as a subsidiary method of evaluation. This study includes 19 children (10 boys 52.6%; 9 girls 47.4%) ranging in age from 5 to 17 years (mean SD = 9.68 3.28) suffering from CEOP and a control group of 30 normal children, matched for chronological age and sex. Peak amplitudes and latencies of the P100 component for pattern-shift VEP (PVEP) and of major positivity for flash VEP (FVEP) are measured, respectively. The results from this study demonstrate that amplitude and latency values in patients with CEOP differs insignificantly when compared with controls. Although, non-significantly, mean values of amplitudes for both PVEP and FVEP were higher in the patients than in the normal children, whereas latencies in FVEP were somewhat longer. There may be some tendency for the amplitudes to increase and the latencies to be delayed in VEPs in patients with CEOP, when an overall interpretation of our and similar studies are considered. In certain cases of diagnostic difficulty, VEP values may provide further information for the clinician, regarding either a symptomatic or an idiopathic nature of the underlying disorder

A case imitating Panayiotopoulos syndrome

Panayiotopoulos syndrome is one of the most common childhood-specific epileptic disorders. It is characterized by autonomic symptoms; the most common being emesis. However, the presence of emetic symptoms may cause misdiagnosis, for example with some organic disorders which have similar autonomic features. On the other hand, since this syndrome has been recently well documented, the tendency for early recognition may lead to overdiagnosis. Here, we present a case which could be mistaken for Panayiotopoulos syndrome based on anamnesis, however, with the aid of ictal video-EEG monitoring, the patient was shown to present with a non-epileptic psychogenic seizure. This report is an example of careful evaluation in order to avoid over- or underdiagnosis of this benign disorder. [Published with video sequences