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

08:46 EDT 23rd April 2014 | BioPortfolio

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Showing PubMed Articles 1–25 of 102 from Epileptic disorders : international epilepsy journal with videotape


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...


Neonatal epilepsy and underlying aetiology: to what extent do seizures and EEG abnormalities influence outcome?

Neonatal seizures constitute the most common and distinctive sign of neurological dysfunction in the first weeks of life and reflect a wide variety of underlying central nervous system disorders. Acute symptomatic seizures occur more often during the neonatal period than at any period of life and are associated with adverse long-term neurodevelopmental sequelae and an increased risk of post-neonatal epilepsy. The improvements of neonatal care in the last decades have changed the spectrum of insults to which...


Predictive factors of ictal SPECT findings in paediatric patients with focal cortical dysplasia.

To identify variables that influence the extent of ictal single-photon emission computed tomography (SPECT) findings in paediatric patients with focal cortical dysplasia (FCD). We visually evaluated 98 ictal SPECT studies from 67 children treated surgically for intractable epilepsy caused by FCD. SPECT findings were classified as "non-localised", "well-localised", and "extensive" and compared with parameters of injected seizures (seizure type and duration, injection time, and scalp EEG ictal pattern), prese...


Pallister-Killian syndrome: a common yet under-recognised cause of epileptic spasms.


Antiepileptic treatment for anti-NMDA receptor encephalitis: the need for video-EEG monitoring.


Extreme delta brush in a patient with anti-NMDAR encephalitis.

Anti-N-methyl-D-aspartate receptor encephalitis is a severe, potentially treatable, disorder and prognosis depends on early recognition and prompt immunotherapy. We report a case of anti-N-methyl-D-aspartate receptor encephalitis with atypical age and gender, and a characteristic electroencephalographic pattern that supported the diagnosis. A 66-year-old male presented with psychiatric disturbances and focal seizures with alteration of consciousness, and progressed to a state of akinetic mutism. Auxiliary t...


Ictal swearing: a case series and review.

Seizures can manifest with ictal swearing but few studies have investigated the localising value of this epileptic manifestation. In this case series and review of the literature, we attempted to determine whether ictal swearing could help localise the epileptic focus. We review two previously published cases and report eight additional epileptic patients with ictal swearing for whom the epileptic focus was determined based on clinical, structural, electrophysiological, and surgical outcome data. Results in...


Increased clinical anticipation with maternal transmission in benign adult familial myoclonus epilepsy in Japan.

We recently reported clinical anticipation in Japanese families with benign adult familial myoclonus epilepsy (BAFME). However, it remains unknown whether clinical anticipation is predominantly associated with paternal or maternal transmission. We investigated the relationship between gender of the transmitting parent and clinical anticipation in nine BAFME families. Clinical anticipation regarding either cortical tremor or generalised seizures was observed in all 12 parent/child pairs (8 mother/child pairs...


Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome.

We report 4 pyridoxine-dependent epilepsy patients in which good outcome was determined in three. The 4 patients were male and aged from 7 to 24 years old (from three unrelated Caucasian families). A clinical diagnosis of neonatal pyridoxine-dependent epilepsy was confirmed by biochemical and genetic studies. Clinical evaluation was performed and medical records were reviewed for therapy implementation and management, neurodevelopment outcome, magnetic resonance imaging, and electroencephalography. All were...


Congenital hemiparesis, unilateral polymicrogyria and epilepsy with or without status epilepticus during sleep: a study of 66 patients with long-term follow-up.

Aim. We retrospectively analysed the electroclinical features, treatment, and outcome in patients with unilateral polymicrogyria (PMG), focussing on epileptic syndrome with or without encephalopathy, with status epilepticus during sleep (ESES) or continuous spikes and waves during slow sleep (CSWS) syndrome. Methods. From June 1990 to December 2012, 39 males and 27 females, aged 5-26 years, were studied. We did not include patients with bilateral PMG or cases with unilateral PMG associated with other cerebr...


Torsional nystagmus in hypothalamic hamartoma.

Torsional nystagmus was noted in a patient with hypothalamic hamartoma. Magnetic resonance imaging revealed an exophytic hypothalamic mass extending into the pre-pontine cistern and abutting ventral mesencephalon. The quickphase of the torsional nystagmus was directed towards the left side, ipsilateral to the side of compression by the hamartoma. Ipsi-lesionally directed pure torsional nystagmus in this case is attributed to the compressive lesion of ocular motor structures responsible for the neural integr...


Usefulness of bilateral bispectral index (BIS) monitoring in a comatose patient with myoclonic status epilepticus secondary to cefepime.

Background. Status epilepticus, particularly non-convulsive status epilepticus (NCSE), is a frequent complication in patients with altered renal function receiving treatment with intravenous cefepime. To the best of our knowledge, we report the first case, illustrated by video-EEG, of a critically ill patient receiving treatment with cefepime who developed an episode of confirmed symptomatic myoclonic status epilepticus (MSE). Methods. Case report and video-EEG. Results. A 60-year-old man, who had received...


Ictal EEG modifications in temporal lobe epilepsy.

Temporal lobe epilepsy is the most common type of epilepsy in adults with medically intractable, localisation-related epilepsy, amenable to surgery. Together with clinical and neuroimaging data, presurgical ictal scalp-EEG findings are often sufficient to define the epileptogenic zone. It is widely believed that ictal scalp-EEG findings in temporal lobe epilepsy are represented by 5-9-Hz lateralised rhythmic theta activity or 2-5-Hz lateralised rhythmic delta activity. On the basis of experimental models an...


Early-onset absence epilepsy aggravated by valproic acid: a video-EEG report.

Early-onset absence epilepsy refers to patients with absence seizures beginning before age 4 and comprises a heterogeneous group of epilepsies. Onset of absence seizures in the first year of life is very rare. We report a boy with absence seizures with onset at age 11 months, whose seizures increased in frequency after the introduction of valproic acid (VPA) treatment and substantially improved upon cessation of treatment. The mechanism of seizure worsening did not involve VPA toxicity, encephalopathy, Glut...


Acute amnesia and seizures in a young female.

Limbic encephalitis is a condition characterised by an acute or sub-acute onset of memory disorder, associated with seizures and psychiatric manifestations. Investigations such as brain MRI usually reveal a high intensity signal in the medial temporal lobe and cerebrospinal fluid analysis shows mild pleocytosis and oligoclonal bands. It may occur in association with cancer, infection, or as an isolated clinical condition, often accompanying autoimmune disorders. Immune-mediated limbic encephalitis is now su...


Epileptic and electroencephalographic manifestations of guanidinoacetate-methyltransferase deficiency.

Aim. Describe the seizure-related manifestations of guanidinoacetate methyltransferase (GAMT) deficiency in two new cases and compare these to the related literature. Methods. We reviewed the clinical and electroencephalographic manifestations of two siblings with GAMT deficiency. We also performed a thorough literature review of all cases of GAMT deficiency, using the PubMed database, and compared our findings to those previously reported. Results. One sibling presented with Lennox-Gastaut syndrome while t...


Epileptic headache: closing Pandora's box.


Adult tonic-clonic convulsive status epilepticus over the last 11 years in a resource-poor country: a tertiary referral centre study from southern Thailand.

Status epilepticus is a common condition in patients admitted to hospital in resource-poor countries and reports indicate that aetiology, factors of poor outcome, and treatment strategies are variable. To date, there is no report of a prospective study in Thai adults. Herein, we investigated the aetiology, clinical features, factors of predicted poor outcome, and treatment strategies in Thai adult patients who presented with convulsive status epilepticus. A total of 180 patients, whose ages ranged from 15 t...


Clinical course of intoxication with the new anticonvulsant drug perampanel.

Perampanel has recently been approved as an anticonvulsant drug for focal epilepsies. Phase III trials have shown good tolerability, although data regarding effects of high doses of perampanel are not available. Here, we describe the first case of a 34-year-old patient with perampanel intoxication and attempted suicide, in which the recommended daily dose of perampanel was exceeded ten-fold. Clinical signs of the intoxication and possible psychotropic effects are described.


Newly-diagnosed epileptic seizures in three populations: Geneva (EPIGEN), Martinique (EPIMART), and the Reunion Island (EPIREUN).

The objective was to analyse and discuss data from three studies of newly-diagnosed epileptic seizures (provoked and unprovoked) conducted in Geneva, Martinique, and the Reunion Island, in which the same methodology was used. We extracted data from three studies in which the incidence of seizures was estimated and aetiologies identified. Data was extracted and analysed using STATA. Group comparison was performed firstly for each study as a single group, and secondly by considering Martinique and the Reunion...

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