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Epileptic Disorders: International Epilepsy Journal with Videotape

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https://www.readbyqxmd.com/read/30113012/inadequate-benzodiazepine-dosing-may-result-in-progression-to-refractory-and-non-convulsive-status-epilepticus
#1
Shishir Keekana Rao, Advait Mahulikar, Mohammad Ibrahim, Aashit Shah, Navid Seraji-Bozorgzad, Wazim Mohamed
Status epilepticus (SE) is defined as ongoing seizures lasting longer than five minutes or multiple seizures without recovery. Benzodiazepines (BZDs) are first-line agents for the management of SE. Our objective was to evaluate BZD dosing in SE patients and its effects on clinical/electrographic outcomes. A retrospective analysis was conducted from a prospective database of SE patients admitted to a university-based neurocritical care unit. The initial presentation and progression to refractory SE (RSE) and non-convulsive SE (NCSE) with coma was evaluated...
August 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30095075/probable-dysimmune-epilepsia-partialis-continua-manifesting-as-epileptic-moving-toes-syndrome-electroclinical-features-of-a-challenging-case
#2
Francesco Brigo, Alberto Vogrig, Arianna Bratti, Veronica Tavernelli, Raffaele Nardone, Eugen Trinka
Epilepsia partialis continua (EPC) is a rare form of focal status epilepticus. We describe a 22-year-old woman with EPC manifesting with isolated toe movements, prevalent over the left side and initially misdiagnosed as psychogenic, clinically almost indistinguishable from those observed in "painful legs and moving toes syndrome". The continuous involuntary movements with EMG correlates of twitches lasting <100 ms, the sharp waves over fronto-central regions on EEG, and the marked asymmetry in somatosensory evoked potentials with higher cortical amplitude over the right side following peripheral stimulation over the left foot confirmed the epileptic nature of the symptoms, leading to the diagnosis of EPC...
August 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30078785/biallelic-loss-of-function-uba5-mutations-in-a-patient-with-intractable-west-syndrome-and-profound-failure-to-thrive
#3
Atsuro Daida, Shin-Ichiro Hamano, Satoru Ikemoto, Ryuki Matsuura, Mitsuko Nakashima, Naomichi Matsumoto, Mitsuhiro Kato
Mutation of the gene encoding ubiquitin-like modifier-activating enzyme 5 (UBA5) causes autosomal recessive early-onset epileptic encephalopathy. UBA5 acts as an E1-activating enzyme in the ubiquitin-fold modifier 1 pathway, which is important for unfolded protein elimination and regulation of apoptosis, and has been linked to human diseases. We identified biallelic mutations in UBA5 in a Japanese boy with intractable West syndrome, profound failure to thrive, and severe cerebral and cerebellar atrophy. The boy presented with epileptic spasms and hypsarrhythmia at the age of three months...
August 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30078784/a-child-with-hyperekplexia-and-epileptic-myoclonus
#4
Lara Wadi, Yasser Medlej, Makram Obeid
Hyperekplexia is a rare neurogenetic disorder characterized by startle. Accurate diagnosis of this notorious mimicker of epilepsy is important to prevent life-threatening apnoea. We report a novel case of concomitant GLRA1-related hyperkeplexia and myoclonic epilepsy. A toddler with daily paroxysms of head drops and falls presented with epileptic myoclonus on EEG, however, whole-exome sequencing revealed hyperekplexia-related GLRA1 mutation. The boy eventually developed spells induced by noise and surprise...
August 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30078774/under-reporting-of-sudden-unexpected-death-in-epilepsy
#5
Sarah Chen, Golsa Joodi, Orrin Devinsky, Murrium I Sadaf, Irion W Pursell, Ross J Simpson
The identification and characterization of sudden unexpected deaths in epilepsy (SUDEP) may be improved, helping to optimize prevention and intervention. We set out to assess the frequency and demographic and clinical characteristics of SUDEP cases in a sudden death cohort. All out-of-hospital deaths were investigated from March 1, 2013 to February 28, 2015 in Wake County, NC, attended by the Emergency Medical Services. Cases were screened and adjudicated by three physicians to identify sudden death cases from any cause among free-living adults, aged 18-64...
August 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30078773/a-comparison-between-the-1981-and-2017-international-league-against-epilepsy-classification-of-seizure-types-based-on-an-outpatient-setting
#6
Hui Gao, Josemir W Sander, Yingfeng Xiao, Yingying Zhang, Dong Zhou
To compare between the 1981 and 2017 International League Against Epilepsy (ILAE) classification of seizure types based on an outpatient setting. We retrospectively reviewed 200 patients from our outpatient epilepsy registry. Based on clinical information, their seizure types were classified according to ILAE official reports, and differences between the 1981 and 2017 classifications were compared. All unclassifiable cases based on either one or both classification systems were discussed. The 200 patients had a total of 243 manifestations...
August 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30078772/neonatal-tremor-episodes-and-hyperekplexia-like-presentation-at-onset-in-a-child-with-scn8a-developmental-and-epileptic-encephalopathy
#7
Linda Pons, Gaëtan Lesca, Damien Sanlaville, Nicolas Chatron, Audrey Labalme, Véronique Manel, Alexis Arzimanoglou, Julitta de Bellescize, Laurence Lion-François
SCN8A encephalopathy is a newly defined epileptic encephalopathy caused by de novo mutations of the SCN8A gene. We report herein a four-year-old boy presenting with severe non-epileptic abnormal movements, of possibly antenatal onset, progressively associated with pharmacoresistant epilepsy and regression, associated with a de novo heterozygous missense mutation of SCN8A. This case shows that paroxysmal non-epileptic episodes of severe tremor and hyperekplexia-like startles and a striking vegetative component can be the first early symptoms of severe SCN8A developmental and epileptic encephalopathy...
August 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30078771/identifying-the-educational-needs-of-physicians-in-pediatric-epilepsy-in-order-to-improve-care-results-from-a-needs-assessment-in-germany-spain-and-the-united-states
#8
Suzanne Murray, Sara Labbé, Sanjeev Kothare, Ignacio Málaga, Gerhard Kluger, Patti Ogden, Patrice Lazure, Alexis Arzimanoglou
The objective of this study was to gather evidence-based data on the educational needs of neuropediatricians. A needs assessment was conducted to identify the clinical challenges of physicians when diagnosing, medically treating, and managing pediatric patients with epilepsy; which could be addressed through educational interventions. A two-phase mixed-methods approach was used to conduct the needs assessment in Germany, Spain, and the US. Phase 1 consisted of qualitative data collection through multiple sources: a literature review, semi-structured interviews with clinicians and nurses working in pediatric epilepsy, and interpretation and input from faculty experts...
August 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30078769/epileptic-ictal-strabismus-a-case-report-and-review-of-the-literature
#9
Francesco Brigo, Franco Alessandrini, Giammario Ragnedda, Piera Canu, Veronica Tavernelli, Arianna Bratti, Raffaele Nardone
Ictal strabismus, sometimes associated with epileptic nystagmus, is an extremely rare epileptic phenomenon, suggestive of cortical involvement in monocular eye movement control. We describe a patient with ictal disconjugate contraversive horizontal eye deviation of cortical origin as the main clinical feature of a focal seizure. A 17-year-old, previously healthy woman had a seizure characterized by initial rightward conjugate eye deviation, followed by convergent strabismus due to adduction of the right eye towards the nose without conjugate left eye abduction (esotropia), forced leftward head deviation with impaired awareness, and subsequent evolution into a bilateral tonic-clonic seizure...
August 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30078767/genetic-literacy-series-genetic-epilepsy-with-febrile-seizures-plus
#10
Kenneth A Myers, Ingrid E Scheffer, Samuel F Berkovic
Genetic epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which affected individuals within a family typically have a variety of epilepsy phenotypes, varying from simple febrile seizures and febrile seizures plus with a good outcome to severe epileptic encephalopathies. Here, we review the spectrum of epilepsy phenotypes, the genetic architecture of GEFS+, and the implicated genes. Using an illustrative clinical case study, we describe important steps in managing patients with GEFS+: making the diagnosis of GEFS+, appropriate genetic testing, and counselling...
August 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30063026/a-triad-of-infantile-spasms-nystagmus-and-a-focal-tonic-seizure
#11
Stephanie Garcia Tarodo, Thu Nguyen, Emmanuelle Ranza, Serge Vulliémoz, Christian M Korff
Epileptic spasms represent a subcategory of motor seizures that have been extensively documented and recently re-classified by the International League Against Epilepsy as either generalized, focal or of unknown onset. Atypical characteristics continue to be reported in case studies, emphasizing the divergent morphological traits and putting into question the underlying aetiopathophysiology. Here, we report the findings of an infant with a triad of clinical manifestations during a single ictal event, comprising a cluster of epileptic spasms, vertical binocular nystagmus, and a focal tonic seizure...
August 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29905159/atypical-postictal-transient-subcortical-t2-hypointensity-in-a-newly-diagnosed-diabetic-patient-with-seizures
#12
Matteo Paoletti, Ana Bacila, Anna Pichiecchio, Lisa Maria Farina, Elisa Rognone, Riccardo Cremascoli, Simona Fanucchi, Raffaele Manni, Stefano Bastianello
Common postictal MRI findings include transient cortical T2 hyperintensity, restricted diffusion, and gyral and/or adjacent leptomeningeal contrast enhancement. In certain uncommon pathological conditions, other signal abnormalities can be present, suggesting a different underlying pathogenic mechanism. We report the case of a 66-year-old man, recently diagnosed with diabetes mellitus type 2, presenting with new-onset visual and auditory hallucinations, "absence" seizures, and repeated peaks of hyperglycaemia without hyperketonaemia or increased serum osmolarity...
June 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29905158/antiepileptic-effect-of-olanzapine-in-epilepsy-patients-with-atypical-depressive-comorbidity
#13
Xiangmiao Qiu, Bianca Zingano, Shixu He, Xi Zhu, Anjiao Peng, Jianan Duan, Peter Wolf, Lei Chen
Depression is relatively common among patients with epilepsy, but often with predominant atypical symptoms. Some antiepileptic drugs show positive psychotropic effects, but these are not always sufficient to stabilize mood in epilepsy patients. Antidepressants are recommended to treat atypical depression but are not always effective and present a certain risk of seizure provocation. Thus, new treatment options are welcome. Here, we describe three cases of refractory epilepsy with atypical depression in which olanzapine, contrary to its earlier reported proconvulsant effect, showed excellent antidepressant action and resulted in seizure control...
June 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29905157/idiopathic-generalised-epilepsies-of-adult-onset-a-reappraisal-and-literature-review
#14
José Pimentel, Sara Varanda, Pedro Guimarães, Fernando Lopes da Silva
Idiopathic generalised epilepsies are characterised by widespread, symmetric, bilateral spike-and-wave discharges on EEG. Onset typically occurs in children and adolescents, but may also start in adulthood. These forms of adult onset constitute the focus of this review. A critical analysis of the medical literature was conducted through a narrative review search of PubMed and Medline databases. Cases of idiopathic generalised epilepsies with adult onset, in general, are not considered to be independent nosological entities...
June 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29905156/two-cases-of-opercular-myoclonic-anarthric-status-epilepticus
#15
Amaia Muñoz-Lopetegi, Gorka Fernández García de Eulate, Jon Rodríguez-Antigüedad Muñoz, Alberto Bergareche, Juan José Poza
Opercular myoclonic-anarthric status epilepticus (OMASE) is a rare form of epilepsia partialis continua presenting as fluctuating dysarthria, or even anarthria. The condition is caused by an epileptogenic lesion involving the opercular cortex of either hemisphere. Speech impairment is secondary to bilateral epileptic activity affecting the glossopharyngeal muscles. This bilateral nature of the condition is due to the fact that innervation of cranial nerves V, VII, IX, X and XII from the opercular area of the primary motor cortex is bilateral...
June 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29905155/a-case-of-perioral-myoclonia-with-absences-and-its-evolution-in-adulthood
#16
Reyhan Surmelı, Hatice Kurucu, Ayse Destina Yalcın, Seher Naz Yenı
The rare syndrome of perioral myoclonia with absences (POMA) is described as a specific type of idiopathic generalized epilepsy in which absence seizures are accompanied by prominent perioral myoclonus as a consistent symptom. We present a 52-year-old man who was referred to our department due to treatment-resistant epilepsy. Typical seizures were described as rhythmic twitching of the lips which started at six years old, and his first convulsive seizure occurred at around 20 years old. Based on video-EEG recordings, we present two distinct EEG patterns accompanied by slight differences in clinical manifestations, which appear to be atypical of POMA...
June 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29905154/high-level-visual-manifestations-of-epileptic-seizures-originating-from-the-medial-parietal-cortex
#17
Shrita Pendekanti, Sori Baek, Yagmur Basak Kilinc, Josef Parvizi
We describe the case of a patient with well-localized focal seizures originating from the medial parietal cortex. Seizures originated from area 7m, and findings revealed clear visuospatial semiological signs that may be used clinically to help diagnose similar cases of seizures in non-lesional patients.
June 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29905153/chromosome-14q11-2-q21-1-duplication-a-rare-cause-of-west-syndrome
#18
Özdem Ertürk Çetin, Cengiz Yalçınkaya, Birsen Karaman, Veysi Demirbilek, Beyhan Tüysüz
Proximal duplication of chromosome 14q, including the FOXG1 gene located on 14q12, is a rare condition characterised by developmental delay, dysmorphic craniofacial features, epilepsy, and severe speech delay. Here, we report a patient with West syndrome whose chromosome analysis revealed 14q11.2-21.1 duplication. The patient was admitted due to infantile epileptic spasms at eight months of age, motor developmental delay, and dysmorphic features. Chromosome and array-CGH analysis revealed de novo 14q11.2-21...
June 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29905152/epileptic-seizure-semiology-in-different-age-groups
#19
Guadalupe Fernandez-Baca Vaca, Carlos L Mayor, Naira García Losarcos, Jun T Park, Hans O Lüders
Seizure semiology provides information about the eloquent cortex involved during a seizure and helps to generate a hypothesis regarding the localization of the epileptogenic zone (EZ), a prerequisite for surgical management of epilepsy. We aimed to study the seizure semiology among all different age groups to better characterize semiological changes that occur with age. We performed a retrospective review of video-EEG data in paediatric and adult patients admitted to the Epilepsy Monitoring Unit over a three-year period...
June 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29905150/gad65-antibody-associated-autoimmune-epilepsy-with-unique-independent-bitemporal-onset-ictal-asystole
#20
Caitlin E D'Souza, Anteneh M Feyissa
Antibodies against the 65-kDa isoform of the intracellular enzyme, glutamate decarboxylase (GAD65), have been found in patients with limbic encephalitis and drug-resistant autoimmune epilepsy. We report a 22-year-old female who presented with new-onset seizures and neuropsychiatric symptoms. Video-EEG captured unique, independent bitemporal-onset focal seizures with impaired awareness and ictal asystole. An autoimmune epilepsy panel revealed elevated GAD65 antibodies in the serum (225 nmol/l) and CSF (2.78 nmol/l), while [18 F]-fluoro-deoxy-glucose positron emission tomography showed bitemporal hypometabolism (left > right)...
June 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
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