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

18:07 EDT 28th May 2016 | BioPortfolio

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Showing PubMed Articles 1–25 of 129 from Epileptic disorders : international epilepsy journal with videotape

Refractory status epilepticus and glutamic acid decarboxylase antibodies in adults: presentation, treatment and outcomes.

Glutamic acid decarboxylase antibodies (GAD-Abs) have been implicated in refractory epilepsy. The association with refractory status epilepticus in adults has been rarely described. We discuss our experience in managing three adult patients who presented with refractory status epilepticus associated with GAD-Abs. Case series with retrospective chart and literature review. Three patients without pre-existing epilepsy who presented to our institution with generalized seizures between 2013 and 2014 were identi...

Efficacy and safety of lacosamide as an adjunctive therapy for refractory focal epilepsy in paediatric patients: a retrospective single-centre study.

Lacosamide is an antiepileptic drug approved for the treatment of focal epilepsy in adult patients. The aim of this observational study was to review our centre's experience with lacosamide and to characterize its effectiveness and tolerability as an adjunctive antiepileptic drug in a retrospective cohort of children with refractory focal epilepsy. We retrospectively reviewed the medical records of 22 patients who received lacosamide from November 2009 to April 2014 at the CHU Ste-Justine, University of M...

Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation.

WDR45 mutations cause neurodegeneration with brain iron accumulation, usually presenting with early childhood developmental delay and followed by early adulthood extrapyramidal symptoms. Although various seizure types may occur, epileptic spasms have not been reported for this disease. Our patient initially developed a prolonged, focal-onset seizure at three months of age and was subsequently noted to have psychomotor delay. At 11 months of age, she developed epileptic spasms. Her EEG showed hypsarrhythmia....

The ketogenic diet in two paediatric patients with refractory myoclonic status epilepticus.

We describe two patients with refractory myoclonic status epilepticus treated with the ketogenic diet. Between May 1, 2014 and January 1, 2015, two patients who met the diagnostic criteria for refractory myoclonic status epilepticus, seen at our department, were placed on the ketogenic diet and followed for a minimum of six months. One patient with myoclonic epilepsy of unknown aetiology had a 75-90% seizure reduction, and the other with progressive encephalopathy associated with myoclonic epilepsy had a ...

Bradycardia from flash stimulation.

This case study documents a patient who experienced bradycardia brought on by flash stimulation during a routine outpatient EEG recording. The patient had known photosensitive seizures in the past. During this routine EEG, the patient's heart rate dropped to about 12 beats per minute with the EEG displaying slow-delta-frequency waves with no epileptiform spikes or sharp waves. During immediate follow-up, in our emergency department, the patient had a brief asystolic event, followed by bradycardia. Cardiolog...

Mega-dose phenobarbital therapy for super-refractory status epilepticus.

To evaluate the efficacy and safety of mega-dose phenobarbital (MDPB; enteral or parenteral phenobarbital >10 mg/kg/day) for treating super-refractory status epilepticus (SRSE; continuous or recurrent status epilepticus for ≥24 hours after the onset of continuous anaesthetic treatment) in adult patients. Adult patients with SRSE who were treated with MDPB in our institution from March 2005 to September 2014 were reviewed. We collected data on basic demographics, clinical features, functional status, anti...

Cerebrospinal fluid findings after epileptic seizures.

We aimed to evaluate ictally-induced CSF parameter changes after seizures in adult patients without acute inflammatory diseases or infectious diseases associated with the central nervous system. In total, 151 patients were included in the study. All patients were admitted to our department of neurology following acute seizures and received an extensive work-up including EEG, cerebral imaging, and CSF examinations. CSF protein elevation was found in most patients (92; 60.9%) and was significantly associated ...

Electroclinical and cytogenetic features of epilepsy in cri-du-chat syndrome.

Cri-du-chat syndrome (CdCs) is caused by deletion in the short arm of chromosome 5, occurring in 1:15,000 to 1:50,000 live births. Recent genotype-phenotype correlation studies show the importance of 5p15.2 for facial dysmorphism and intellectual disability, and 5p15.3 for cat-like cry. Numerous reports have shown the relative rarity of epilepsy in this syndrome. We identified two cases with epilepsy in CdCs, and described their electroclinical and cytogenetic features. The first case was a 25-year-old fema...

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...

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...

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...

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...


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