PubMed Journal Database | Epileptic disorders : international epilepsy journal with videotape RSS

15:23 EDT 27th August 2015 | BioPortfolio

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Showing PubMed Articles 1–25 of 121 from Epileptic disorders : international epilepsy journal with videotape


Phenotypes of children with 20q13.3 microdeletion affecting KCNQ2 and CHRNA4.

In order to clarify the phenotypes of 20q13.33 microdeletion, clinical manifestations and genetic findings from four patients are discussed in relation to chromosomal microdeletions at 20q13.33. All patients had epileptic seizures mostly beginning within the neonatal period and disappearing by 4 months of age, similar to epilepsy phenotypes of benign familial neonatal seizures. We performed array comparative genomic hybridization analysis in order to investigate the chromosomal aberration. Developmental out...


Cardiogenic syncope diagnosed as epileptic seizures: the importance of ECG during video-EEG recording.

We describe four patients with a previous diagnosis of epilepsy. After reviewing the ECG during the video-EEG recording, cardiogenic syncope, resulting from a cardiac arrhythmia, was identified as the cause of the seizures. Epileptic disorders and cardiogenic syncope may both manifest with convulsions, loss of consciousness, and loss of postural tone, leading to a high level of misdiagnosis. The one-lead ECG during video-EEG monitoring is a key component, which may allow correct diagnosis and treatment.


Anomia produced by direct cortical stimulation of the pre-supplementary motor area in a patient undergoing preoperative language mapping.

There is sparse data on the analysis of supplementary motor area in language function using direct cortical stimulation of the supplementary motor area. Here, we report a patient who experienced isolated anomia during stimulation of the anterior supplementary motor area and discuss the role of the supplementary motor area in speech production. The role of the pre-supplementary motor area in word selection, observed in fMRI studies, can be confirmed by direct cortical stimulation.


Cognitive impairment in epilepsy: the role of network abnormalities.

The challenges to individuals with epilepsy extend far beyond the seizures. Co-morbidities in epilepsy are very common and are often more problematic to individuals than the seizures themselves. In this review, the pathophysiological mechanisms of cognitive impairment are discussed. While aetiology of the epilepsy has a significant influence on cognition, there is increasing evidence that prolonged or recurrent seizures can cause or exacerbate cognitive impairment. Alterations in signalling pathways and neu...


Good outcome in adult-onset Rasmussen's encephalitis syndrome: is recovery possible?

A healthy 29-year-old man suffered from adult-onset epilepsy, characterized by polymorphic progressive seizures resistant to AEDs, leading to unilateral cortical deficits and atrophy of the left hemisphere. The disorder satisfied the clinical, EEG, and imaging criteria for a diagnosis of Rasmussen's encephalitis. During the acute phase of the disease, intrathecal synthesis of specific anti-CMV IgG was identified. This case was characterized by a very mild course and remission of seizures following a treatme...


Long-term health-related quality of life in drug-resistant temporal lobe epilepsy after anterior temporal lobectomy.

Epilepsy surgery is beneficial to patients suffering from drug-resistant temporal lobe epilepsy in the short term, but fewer reports of long-term outcomes have been published. To clarify the long-term outcomes of seizure control and health-related quality of life after epilepsy surgery, we enrolled 48 patients suffering from drug-resistant temporal lobe epilepsy. All of the patients received comprehensive presurgical evaluations, including the Quality of Life in Epilepsy Inventory-89 (QOLIE-89) questionnair...


Management of epilepsy in resource-limited settings.

Epilepsy is one of the most common and widespread neurological disorders affecting over 65 million people worldwide. Although estimates vary considerably, the annual incidence is considered to be almost 50 per 100,000 and prevalence around 700 per 100,000. It is thought, however, that more people are affected in low- and middle-income countries where resources to improve the care for people with epilepsy are limited. Of all people with epilepsy, around 80% live in resource-limited countries and up to 90% o...


Ring 17 syndrome: first clinical report without intellectual disability.

Ring chromosomes are rare abnormalities caused by the fusion of the telomeric regions. Three-ring chromosome syndromes (Cr 20, Cr 17 and Cr 14) cause epilepsy with variable phenotypes. In ring 17 patients with mild phenotype, some authors have shown an epilepsy syndrome similar to that of ring 20. We report the first case of a girl with ring chromosome 17 and a normal neurological and general cognitive profile. She had had, from 9 years old, focal pharmacoresistant epilepsy associated with episodes of non-c...

Wednesday 28th April 1091

Are febrile seizures an indication for intermittent benzodiazepine treatment, and if so, in which cases?

Febrile seizures occur in ∼4% of children. After a first febrile seizure, the risk of recurrence is ∼40%, but excellent studies document that febrile seizures do not cause brain damage or deficits in cognition or behaviour. The risk of subsequent epilepsy is 2-4%. Prolonged febrile seizures are of concern because a child may later develop mesial temporal sclerosis and intractable epilepsy in rare cases. Most prolonged febrile seizures represent the first febrile seizure and cannot be anticipated. A firs...


Utility of electrocorticography in the surgical treatment of cavernomas presenting with pharmacoresistant epilepsy.

Aim. To describe the general aspects of cavernomas and epilepsy and review the available literature on the utility of electrocorticography (ECoG) in cerebral cavernoma surgery. Methods. We searched studies in PubMed, MedLine, Scopus, Web of Science, and Google Scholar (from January 1969 to December 2013) using the keywords "electrocorticography" or "ECoG" or "prognosis" or "outcome" and "cavernomas". Original articles that reported utility of ECoG in epilepsy surgery were included. Four review authors indep...


Intraoperative ElectroCorticoGraphy (ECog): indications, techniques, and utility in epilepsy surgery.

Aims. To describe the technique, indications, and utility of intraoperative ECoG monitoring during various surgeries for medically intractable epilepsy. Methods. Literature was reviewed to obtain published results on using intraoperative ECoG techniques for the surgical treatment of medically intractable epilepsy of various underlying aetiologies. Results. General intraoperative ECoG techniques were described, including effects of anaesthetic agents on intraoperative ECoG signals. Use of intraoperative ECoG...


Multifocal dysembryoplastic neuroepithelial tumours associated with refractory epilepsy.

Dysembryoplastic neuroepithelial tumours (DNET) are a common cause of tumour-associated epilepsy, and are usually located in the temporal lobes. We present a case of multifocal DNETs in both infra- and supra-tentorial locations, in a 23-year-old man with a coincident Type I Chiari malformation, presenting with medically refractory focal seizures. The extensive anatomical distribution of the lesions suggests a genetic component in their tumourigenesis.


Time to relapse after epilepsy surgery in children: AED withdrawal policies are a contributing factor.

Aim. It was recently suggested that early postoperative seizure relapse implicates a failure to define and resect the epileptogenic zone, that late recurrences reflect the persistence or re-emergence of epileptogenic pathology, and that early recurrences are associated with poor treatment response. Timing of antiepileptic drugs withdrawal policies, however, have never been taken into account when investigating time to relapse following epilepsy surgery. Methods. Of the European paediatric epilepsy surgery c...


Limbic encephalitis with anti-GAD antibodies and Thomsen myotonia: a casual or causal association?

The association between hereditary myotonic disorders and epilepsy is seldom described in the literature. To date, few reports have dealt with dystrophic myotonias, whereas a single case demonstrating an association between sporadic congenital myotonia and epilepsy was recently reported in a patient carrying a de novo mutation of the CLCN1 gene. Additional evidence for a role of CLCN1 in the pathogenesis of epilepsy is derived from large-scale exome analysis of ion channel variants and expression studies. H...

Saturday 5th September 1056

Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.

Hyperekplexia is a rare neurogenetic disorder, frequently misdiagnosed in neonates with a risk of apnoea, asphyxia, and sudden infant death. We present video sequences of a male newborn, admitted on the second day of life to the neonatal intensive care unit, due to tonic-clonic movements. Following clinical and paraclinical investigations, a final diagnosis of hyperekplexia was made. Genetic analysis revealed a homozygous mutation in GLRA1 resulting in a R392H amino acid substitution and altered receptor dy...

Wednesday 26th February 1056

Persistent frequent subclinical seizures and memory impairment after clinical remission in smoldering limbic encephalitis.

Aim. To delineate a possible correlation between clinical course and EEG abnormalities in non-infectious "smoldering" limbic encephalitis. Methods. Long-term clinical data, including video-EEG monitoring records, were analysed in two patients. Results. The two patients were positive for anti-voltage-gated potassium channel complex antibody and unspecified antineuronal antibody, respectively. The latter patient had small cell lung carcinoma. Both patients had memory impairment and clinical seizures. EEG show...


Quantitative MR and cognitive impairment in cryptogenic localisation-related epilepsy.

For patients with chronic cryptogenic localisation-related epilepsy (CLRE), conventional MRI does not provide measures to discern between patients with or without cognitive complaints. We investigated, in a preliminary study, whether it is possible to detect cerebral biomarkers of cognitive impairment in patients with CLRE using sensitive quantitative MRI techniques. Neuropsychological assessment and quantitative 3.0 T MRI, comprising T2 relaxometry, diffusion tensor imaging, and spectroscopic imaging, wer...


Bilateral occipital dysplasia, seizure identification, and ablation: a novel surgical technique.

MRI-guided thermal ablation is a relatively new technique utilising heat to ablate both tumours and epileptogenic lesions. Its use against epilepsy offers some patients a new and relatively safe way of reducing or aborting seizures. Most cases of MRI-guided thermal ablation have been performed in patients with isolated lesions. Placement of depth electrodes prior to laser ablation has been rarely performed. We present a case with bilateral independent lesions traversing eloquent cortex, which, after samplin...


Gelastic seizures with dancing arising from the anterior prefrontal cortex.

Aim. This case report provides insight into the function of the anterior prefrontal cortex (aPFC), specifically Brodmann Area 10 (BA10), and its interconnectivity. Method. We present a 10-year-old patient with lesional epilepsy and ictal onset, localised to BA10 in the aPFC. Results. Thirty-four seizures were recorded. All seizures involved a demonstration of elation with laughter that was associated with a variety of different patterns of complex motor behaviour that included performing specific celebrator...


Extreme startle and photomyoclonic response in severe hypocalcaemia.

We report the case of 62-year-old woman referred to our department because of a clinical suspicion of tonic-clonic seizures. Clinical examination revealed an exaggerated startle reflex, EEG showed a photomyoclonic response, and blood tests indicated severe hypocalcaemia. Additional clinical data, treatment strategies, and long-term follow-up visits were reported. The present report discusses the difficulties in distinguishing between epileptic and non-epileptic startles, and shows, for the first time, exagg...


A simple febrile seizure with focal onset.

Simple febrile seizures last for less than 10 minutes and resolve spontaneously, in the context of a febrile illness, without focal features or recurrence during the subsequent 24 hours. We report the case of fortuitous video-EEG recording of a FS, clinically classified as "simple", which demonstrated a focal, temporal onset. This clinical finding is in agreement with animal model studies demonstrating focal onset. [Published with video sequences].


Confirming an expanded spectrum of SCN2A mutations: a case series.

Mutations in sodium channel genes are highly associated with epilepsy. Mutation of SCN1A, the gene encoding the voltage gated sodium channel (VGSC) alpha subunit type 1 (Nav1.1), causes Dravet syndrome spectrum disorders. Mutations in SCN2A have been identified in patients with benign familial neonatal-infantile epilepsy (BFNIE), generalised epilepsy with febrile seizures plus (GEFS+), and a small number of reported cases of other infantile-onset severe intractable epilepsy. Here, we report three patients w...


Ezogabine treatment of childhood absence epilepsy.

Generalised-onset absence seizures can be resistant to treatment with currently available antiepileptic drugs. Ezogabine (retigabine), a potassium channel opener, is approved for the treatment of focal-onset seizures. This is a case report of an adult with childhood absence epilepsy whose daily absence seizures ceased with adjunctive ezogabine. A 59-year-old woman, with a history of typical absence seizures since the age of 6 years, had multiple seizures daily despite trials of over 11 antiepileptic drugs. ...


Cobalamin deficiency triggering de novo status epilepticus.

Cobalamin deficiency is included in the spectrum of very uncommon underlying causes of status epilepticus (SE) and the literature contains very few such cases. We herein report a case of unusual presentation of cobalamin (vitamin B12) deficiency with de novo SE with the intention to bolster the argument that a de novo manifestation of SE due to cobalamin deficiency might not be that uncommon. We also support the importance of prompt identification and treatment of the underlying causes of SE, particularly t...


Auditory hallucinations as ictal phenomena in a patient with voltage-gated potassium channel antibody-associated limbic encephalitis.

Limbic encephalitis involving anti-voltage-gated potassium channel antibodies (VGKC-LE) has become increasingly recognised, with seizures and psychotic features, such as hallucinations being typical clinical manifestations. Though the literature supports auditory hallucinations as ictal phenomena, there are no reported cases of these hallucinations correlating with electrographic seizure for this disease entity. Early recognition of auditory hallucinations as seizures could alter treatment and subsequently ...