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Epileptic Disorders: International Epilepsy Journal with Videotape

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https://www.readbyqxmd.com/read/30361190/west-syndrome-developmental-and-epileptic-encephalopathy-and-severe-cns-disorder-associated-with-wwox-mutations
#1
Qudsia Shaukat, Jozef Hertecant, Ayman W El-Hattab, Bassam R Ali, Jehan Suleiman
Mutations in the WWOX gene have been reported in a number of patients with various neurological disorders including spino-cerebellar ataxia, intellectual disability, epilepsy, and epileptic encephalopathy. We aimed to study the clinical, electrographic, and imaging features of two new cases with WWOX mutations and compare them to previously reported cases with WWOX mutations. We assessed two unrelated children from two consanguineous families who had severe neurological disorder including early-onset spastic quadriplegia, profound developmental delay, epilepsy, and West syndrome...
October 25, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30361188/investigation-of-slc2a1-gene-variants-in-genetic-generalized-epilepsy-patients-with-eyelid-myoclonia
#2
Güneş Altıokka-Uzun, Özkan Özdemir, Sibel Uğur-İşeri, Nerses Bebek, Candan Gürses, Uğur Özbek, Betül Baykan
In addition to a complex inheritance pattern in genetic generalized epilepsy (GGE) syndromes, some studies have recently identified SLC2A1 variants which lead to glucose transporter type 1 (GLUT1) defects, in patients diagnosed with GGE. Here, we investigated the possible role of SLC2A1 variants in GGE patients with eyelid myoclonia (EM) which is a rare generalized seizure type associated with drug resistance and cognitive dysfunction. After polymerase chain reaction with designed primers, sequencing of all SLC2A1 exons was performed for 25 GGE-EM patients, as well as a control group of 15 GGE patients with absence seizures...
October 25, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30361187/genetic-idiopathic-generalized-epilepsy-with-occipital-semiology
#3
Pablo Gómez-Porro, Angel Aledo Serrano, Rafael Toledano, Irene García-Morales, Antonio Gil-Nagel
Idiopathic photosensitive occipital lobe epilepsy (IPOE) is a syndrome that should be suspected in patients with seizures with occipital semiology, photosensitivity, and normal MRI. It should be distinguished from occipital epilepsy of unknown aetiology (cryptogenic) given the differences in management. We reviewed patients with occipital seizures which were investigated in our epilepsy unit during the last three years. Three patients were identified with features of IPOE and genetic generalized epilepsy (GGE), formerly known as idiopathic generalized epilepsy, and their clinical characteristics were analysed...
October 25, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30361186/patient-satisfaction-with-epilepsy-surgery-what-is-important-to-patients
#4
Meaghan Lunney, Sandra Wahby, Khara M Sauro, Mark J Atkinson, Colin B Josephson, Fady Girgis, Shaily Singh, Scott B Patten, Nathalie Jetté, Tolulope T Sajobi, Walter Hader, Samuel Wiebe
Patient satisfaction with therapeutic interventions is an important outcome of care. Although generic measures of patient satisfaction exist, there is no validated scale for measuring patient satisfaction with epilepsy surgery. We aimed to systematically obtain patient-identified factors related to satisfaction with epilepsy surgery as a means of informing clinicians about the ways that patients evaluate outcomes of their treatment and as a conceptual basis for the future development of epilepsy surgery patient satisfaction scales...
October 25, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30361185/lacosamide-for-scn2a-related-intractable-neonatal-and-infantile-seizures
#5
Flor-Hirsch Hadar, Heyman Eli, Livneh Ayelet, Reish Orit, Watemberg Nathan, Litmanovits Ita, Ben Sason Lilli Anat, Lev Dorit, Lerman Sagie Tally, Bassan Haim
Voltage-gated sodium channel alpha subunit 2 (SCN2A) gene mutations are associated with neonatal seizures and a wide range of epilepsy syndromes. Previous reports suggest that traditional sodium channel blockers (SCBs) such as phenytoin, carbamazepine, and lamotrigine have a beneficial effect on SCN2A-related neonatal seizures, as they counteract the gain-of-function effect of mutated Nav1.2 channels. Additionally, SCBs are beneficial against other sodium and potassium channel-related neonatal seizures. There are, however, few reports describing the effect of the new SCB lacosamide against neonatal and infantile epileptic seizures...
October 25, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30361184/refractory-epilepsy-secondary-to-anti-gad-encephalitis-treated-with-dbs-post-seeg-evaluation-a-novel-case-report-based-on-stimulation-findings
#6
Lisa Gillinder, Alexander Lehn, Jason Papacostas, Sarah Olson, Stefan Blum, Sasha Dionisio
We report a case of medically refractory anti-GAD encephalitis which was treated with deep brain stimulation (DBS) after seizure termination was achieved using cortical stimulation during stereo-electroencephalography (SEEG) evaluation. The patient underwent bilateral SEEG implantation and cortical stimulation. Upon stimulation, mimicking the intrinsic seizures (at 1 Hz), it was possible to induce seizures with typical semiology, on multiple attempts. Stimulation during these seizures with high frequency (50 Hz) resulted in complete termination of the seizure...
October 25, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30361183/ictal-spect-reveals-different-epileptogenic-zones-in-frontal-lobe-epilepsy
#7
Pedro Correia, Christian Vollmar, Jan Rémi, Christian la Fougere, Soheyl Noachtar
We report a patient with frontal lobe epilepsy due to a right frontal astrocytoma (WHO Grade III) in whom two ictal SPECTs (single photon emission tomography) were performed during two seizures with different semiology and different EEG seizure patterns. Subtraction of ictal and interictal SPECT showed right lateral frontal hyperperfusion during a left face clonic seizure, and right mesial fronto-polar hyperperfusion during a subclinical seizure. This report demonstrates that ictal SPECT may reflect different seizure semiology from the frontal lobe of the same individual and that simultaneous EEG is indispensable for the correct interpretation of SPECT in epilepsy...
October 25, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30361182/stimulation-induced-ictal-vocalisation-of-left-frontal-lobe-origin
#8
Leyla Baysal-Kirac, Elisabeth Hartl, Christian Vollmar, Katharina Ernst, Hannah Lohr, Soheyl Noachtar
Pure ictal non-speech vocalisation occurs in frontal and temporal lobe epilepsies. Electrical stimulation of supplementary motor areas is reported to evoke vocalisation in selected patients. Here, we report a patient with focal epilepsy of the left anterior insula who had isolated monotonous vocalisation elicited by electrical stimulation of the left superior frontal gyrus. Quantitative analysis of audio signals was performed and compared with a former patient with left frontal lobe epilepsy who had pure ictal vocalisation...
October 25, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30361181/a-web-based-diagnostic-reference-centre-for-the-european-reference-network-epicare-recommendations-of-the-eneuropathology-working-group
#9
Konrad Kölble, Helen J Cross, Albert Becker, Ingmar Blümcke
Epilepsy surgery is a valuable treatment strategy for a selected group of patients with drug-resistant focal epilepsy. While reliable disease classification is essential for the optimal management of patients in general and crucial for the development of more personalized therapies in the future, arriving at a precise diagnosis often poses considerable difficulties due to the broad and variant-rich spectrum of epilepsy-associated brain lesions. Given the scarcity of European institutions diagnostically focusing on the histopathology of epilepsy surgery cases, the provision of subspecialty expertise as well as training opportunities remains logistically and financially challenging...
October 25, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30378554/why-the-timetostop-trial-failed-to-recruit-a-survey-on-antiepileptic-drug-withdrawal-after-paediatric-epilepsy-surgery
#10
Herm J Lamberink, Karin Geleijns, Willem M Otte, Alexis Arzimanoglou, J Helen Cross, Christian M Korff, Georgia Ramantani, Kees P J Braun
Following the results of the multicentre European retrospective "TimeToStop" cohort study, we initiated a randomised trial to determine cognitive benefits of early postoperative antiepileptic drug withdrawal. Unfortunately, the trial failed to recruit and was terminated, as almost all parents preferred early drug withdrawal. The objectives of the current survey were to obtain insight into current practices regarding drug withdrawal after paediatric epilepsy surgery among epileptologists, and better understand the reasons for difficulties in recruitment...
October 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30378553/epilepsy-surgery-for-polymicrogyria-a-challenge-to-be-undertaken
#11
Louis Maillard, Georgia Ramantani
Polymicrogyria (PMG) is one of the most common malformations of cortical development (MCDs), with epilepsy affecting most patients. PMG-related drug-resistant epilepsy patients can be considered for epilepsy surgery in well-selected cases. In this context, a comprehensive presurgical evaluation, often including stereo-electroencephalography (SEEG), is warranted to accurately delineate the epileptogenic zone. The heterogeneity of intrinsic epileptogenicity in PMG, together with the additional or predominant involvement of remote cortical areas, calls for a different strategy in PMG compared to other MCDs, namely one that is not predominantly MRI- but rather SEEG-oriented...
October 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30378548/investigation-of-paediatric-occipital-epilepsy-using-stereo-eeg-reveals-a-better-surgical-outcome-than-in-adults-especially-when-the-supracalcarine-area-is-affected
#12
Laura Craciun, Delphine Taussig, Sarah Ferrand-Sorbets, Eduardo Pasqualini, Arnaud Biraben, Olivier Delalande, Nathalie Dorison, Martine Fohlen, Georg Dorfmuller, Mathilde Chipaux
Occipital epilepsy is the least common among surgical series because: (1) the location makes it hard to asses by EEG; (2) the seizure semiology often reflects propagation; and (3) surgery entails a high risk of neurological deficits. In children, subjective symptoms are harder to assess, adding to the difficulty of a proper diagnosis. We aimed to determine electroclinical characteristics of occipital lobe epilepsy in a paediatric population by reviewing 20 children between one and 16 years, who had undergone intracranial recordings with depth electrodes...
October 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30378547/diaper-changing-induced-reflex-seizures-in-cdkl5-related-epilepsy
#13
Roberta Solazzi, Elena Fiorini, Elena Parrini, Francesca Darra, Bernardo Dalla Bernardina, Gaetano Cantalupo
Mutations in the CDKL5 (cyclin-dependent kinase-like-5) gene are known to determine early-onset drug resistant epilepsies and severe cognitive impairment with absent language, hand stereotypies, and deceleration of head growth. Reflex seizures are epileptic events triggered by specific stimuli and diaper changing is a very rare triggering event, previously described in individual cases of both focal and unclassified epilepsy, as well as in Dravet syndrome. Our aim was to describe diaper changing-induced reflex seizures as one of the presenting features in a case of CDKL5-related epilepsy, providing video-EEG documentation and focusing discussion on hyperexcitability determined by the disease...
October 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30378543/sleep-related-hypermotor-epilepsy-and-peri-ictal-hypotension-in-a-patient-with-syntaxin-1b-mutation
#14
Joao Peres, Francisco Antunes, Bilal Zonjy, Anna L Mitchell, Samden D Lhatoo
STX1B is a gene that encodes syntaxin-1B. STX1B mutations have recently been implicated in fever-associated epilepsy syndromes. However, these have not previously been reported in sleep-related hypermotor epilepsy. A 20-year-old man with a strong family history of epilepsy was investigated in our epilepsy monitoring unit due to uncontrolled epilepsy, compatible with sleep-related hypermotor epilepsy. Electroclinical and polygraphic physiological recordings revealed left frontal epileptiform discharges and prominent peri-ictal hypotension...
October 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30378539/epilepsy-for-primary-health-care-a-cost-effective-latin-american-e-learning-initiative
#15
Jaime Carrizosa, Patricia Braga, Marly Albuquerque, Alicia Bogacz, Jorge Burneo, Ana C Coan, Guilca Contreras, Laura Guilhoto, Álvaro Izquierdo, Lady Ladino, Katia Lin, Maria L Manreza, Lilia Morales, Loreto Ríos, Rodrigo Solarte, Kette Valente, Viviana Venegas, Angélica Uscátegui-Daccarett, Elza M Yacubian
A lack of neurologists in Latin America forces primary health care providers to manage epilepsy. With the main goal of improving diagnostic and therapeutic management of patients with epilepsy through training of physicians in the primary health care level, the International League Against Epilepsy Education Commission (2013-2017) created a low-cost, regional, virtual course. The course, set-up in Moodle platform, was structured in eight modules, each lasting for a week. Teaching was based on written didactic material, videos, and interactive discussions, both in Spanish and Portuguese...
October 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30355546/electroclinical-history-of-a-five-year-old-girl-with-grin1-related-early-onset-epileptic-encephalopathy-a-video-case-study
#16
Erica Pironti, Francesca Granata, Francesca Cucinotta, Antonella Gagliano, Stephanie Efthymiou, Henry Houlden, Vincenzo Salpietro, Gabriella Di Rosa
De novo mutations in the GRIN1 gene have been recently reported as the molecular cause of a broad-spectrum early-onset neurological phenotype. Here, we describe a five-year-old girl with an early-onset epileptic encephalopathy associated with an infantile hyperkinetic movement disorder and oculomotor abnormalities. Whole-exome sequencing identified a novel p.Met641Leu de novo variant in the GRIN1 gene as the cause of the phenotype. In silico analysis suggested that the p.Met641Leu variant would alter the gating property of the ion channel, with the involved methionine residue facing towards the ion pore...
October 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30113012/inadequate-benzodiazepine-dosing-may-result-in-progression-to-refractory-and-non-convulsive-status-epilepticus
#17
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
#18
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
#19
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
#20
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
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