دسترسی یکساله به بیش از ۵۰۰ ژورنال روز جهان موجود در سامانه
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The importance of discriminative power rather than significance when evaluating potential clinical biomarkers in epilepsy research
Geertruida Slinger, Remi Stevelink, Eric van Diessen, Kees P. J. Braun, Willem M. Otte
doi : 10.1002/epd2.20010
The quest for epilepsy biomarkers is on the rise. Variables with statistically significant group-level differences are often misinterpreted as biomarkers with sufficient discriminative power. This study aimed to demonstrate the relationship between significant group-level differences and a variable's power to discriminate between individuals.
Negative myoclonus causes locomotory disability in progressive myoclonus epilepsy type EPM1- Unverricht-Lundborg disease
Heinrich Vogt, Thomas Baisch, Christoph Mueller-Pfeiffer, Ian William Mothersill
doi : 10.1002/epd2.20017
Patients with Unverricht-Lundborg disease/EPM1 develop increasing locomotory disability or ataxia in the course of their disease. To test our hypothesis that negative myoclonus is the reason for this increasing ataxia, we investigated a possible correlation over time.
Chronotype and sleep disorders in children with epilepsy
Ayse Aysima Ozcelik, Mehmet Karadag
doi : 10.1002/epd2.20034
The circadian rhythm can affect the frequency and resistance of epileptic seizures. In this cross-sectional study, we examined the impact of chronobiology and sleep disturbances on children with epilepsy.
Epilepsia partialis continua and unilateral cortical–subcortical FLAIR-hyperintense lesion in Rasmussen's encephalitis: Is it diagnostic?
Sujit A. Jagtap, Yogeshwari Deshmukh, Aniruddha Joshi, Sandeep Patil, Nilesh Kurwale, Sujit Nilegaonkar
doi : 10.1002/epd2.20033
Rasmussen encephalitis (RE) is a focal encephalitis, characterized by epilepsia partialis continua (EPC) with or without seizures and progressive unilateral deficits. Imaging characteristics of RE have been rarely described in detail in relation to EPC. So, the study aimed to explore if any relationship exists between the imaging characteristics and the presence or evolution of EPC in patients with RE.
The potential of the Lempel–Ziv complexity of the EEG in diagnosing cognitive impairment in patients with temporal lobe epilepsy
Zhe Ren, Mengyan Yue, Xiong Han, Zongya Zhao, Bin Wang, Yang Hong, Ting Zhao, Na Wang, Pan Zhao, Yingxing Hong, Qi Wang, Yibo Zhao
doi : 10.1002/epd2.20044
To analyze whether the Lempel–Ziv Complexity (LZC) in quantitative electroencephalogram differs between the temporal lobe epilepsy (TLE) patients with or without cognitive impairment (CI) and explore the diagnostic value of LZC for identifying CI in TLE patients.
Frontal lobe epilepsy and mild malformation with oligodendroglial hyperplasia: Further observations on electroclinical and imaging phenotypes, and surgical perspectives
Kyriakos Garganis, Kostakis Gkiatis, Jelena Maletic, Jean Harushukuri, Nikolaos Kondylidis, Argiris Dinopoulos, Pelagia Vorgia, Roland Coras, Ingmar Bluemcke, Basilios Zountsas
doi : 10.1002/epd2.20062
Mild malformation with oligodendroglial hyperplasia (MOGHE) is a recently described clinicopathologic entity, associated with drug-resistant epilepsy and extensive epileptogenic networks. Knowledge is accumulating about particular electroclinical phenotypes, correlations with imaging, and potential prognostic significance for surgical outcomes. The study adds relevant information by documenting the presence of a hyperkinetic frontal lobe seizure phenotype in adolescents and an epileptic encephalopathy phenotype in young children.
Role of EEG as a monitoring tool in patients with glucose transporter type I deficiency syndrome (GLUT1-DS) on ketogenic diet
Juan Toro-Perez, Sarah Healy, Erick Sell, Srinivas Bulusu, Sharon Whiting
doi : 10.1002/epd2.20063
Glucose transporter type I deficiency syndrome (GLUT1-DS) is the fourth most frequent single-gene epilepsy refractory to standard antiepileptic drugs. Multiple seizure types and variable electrographic findings are reported. Ketogenic diet is expected to result in the complete resolution of the epileptiform activity.
Modeling PCDH19 clustering epilepsy by Neurogenin 2 induction of patient-derived induced pluripotent stem cells
Diana Alaverdian, Anna Margherita Corradi, Bruno Sterlini, Fabio Benfenati, Luca Murru, Maria Passafaro, Jlenia Brunetti, Ilaria Meloni, Francesca Mari, Alessandra Renieri, Elisa Frullanti
doi : 10.1002/epd2.20065
Loss of function mutations in PCDH19 gene causes an X-linked, infant-onset clustering epilepsy, associated with intellectual disability and autistic features. The unique pattern of inheritance includes random X-chromosome inactivation, which leads to pathological tissue mosaicism. Females carrying PCDH19 mutations are affected, while males have a normal phenotype. No cure is presently available for this disease.
Precision medicine: Vinpocetine as a potential treatment for GABRG2-related epilepsy
Despoina Mandelenaki, Elodie Juvené, Damien Lederer, Alec Aeby
doi : 10.1002/epd2.20015
Pathogenic variants of the GABRG2 gene, encoding a GABAA receptor subunit, have been associated with various epileptic syndromes and drug-resistant epilepsy. Vinpocetine has been previously reported efficacious in a patient harboring a GABRB3 pathogenic variant, encoding another GABAA receptor subunit.
“Plok-plok� syndrome: Posttraumatic stress disorder following an SEEG thermocoagulation and direct electrical stimulation procedure
Lisa-Dounia Soncin, Marie Arthuis, Julia Scholly, Romain Carron, Aileen McGonigal, Francesca Pizzo, Agnès Trébuchon, Stanislas Lagarde, Fabrice Bartolomei
doi : 10.1002/epd2.20023
The psychological impact of intracerebral electroencephalography (stereoelectroencephalography [SEEG]) including the thermocoagulation procedure has not yet been clearly studied. We present a case of a patient who, following an SEEG procedure for presurgical evaluation of intractable focal epilepsy, developed severe symptoms of posttraumatic stress disorder. Such an occurrence may be under-estimated.
Bilateral tonic–clonic seizure and focal cortical hyperexcitability in familial Creutzfeldt-Jakob disease with E200K mutation of the prion protein
Norihiko Kawaguchi, Atsuko Motoda, Tatsuhiro Terada, Naotaka Usui, Kiyohito Terada, Tomoyasu Matsubara, Katsuya Sato, Tetsuyuki Kitamoto, Shigeo Murayama, Tomokazu Obi
doi : 10.1002/epd2.20028
Convulsive epileptic seizures are rare in Creutzfeldt-Jakob disease (CJD), and their clinical and EEG features have not been reported in detail. We describe a case of familial CJD with an E200K mutation of the prion protein who presented with bilateral tonic–clonic seizures (BTCS) during long-term video-EEG monitoring.
Is thalamic deep brain stimulation synergistic with vagus nerve stimulation in drug-resistant genetic generalized epilepsy?
Aafreen Khan, Erik H. Middlebrooks, Brin Freund, Sanjeet Grewal, William O. Tatum
doi : 10.1002/epd2.20038
Neuromodulation in epilepsy is a proven treatment for people with drug-resistant focal epilepsy. Dual device therapies are increasingly utilized in people with drug-resistant epilepsy. Vagus nerve stimulation (VNS) and deep brain stimulation (DBS) target the thalamus involving the primary neurobiological network in patients with genetic generalized epilepsy (GGE).
Pseudohyperkalemia due to cryohydrocytosis in GLUT1 deficiency syndrome. A case report and literature review
Alessandro Furia, Lorenzo Muccioli, Margherita Santucci, Laura Licchetta, Francesca Bisulli
doi : 10.1002/epd2.20039
Cryohydrocytosis is a form of stomatocytosis characterized by the leakage of sodium and potassium from red blood cells at low temperatures, characterized by pseudohyperkalemia. Stomatin-deficient cryohydrocytosis is an extremely rare variant that only recently has been related to pathogenic variants in the SLC2A1 gene, encoding the main glucose transporter of the blood–brain barrier and red blood cells, GLUT1.
Focal tonic seizures with asymmetrical posturing could allow voluntary movements: A lesson to not be misled for a non-epileptic event
Mitsumasa Fukuda, Maya Tojima, Kenji Inoue, Hideaki Mashimo, Hirofumi Kashii, Satoko Kumada, Kiyohide Usami, Akio Ikeda
doi : 10.1002/epd2.20047
This report documents the clinical features of supplementary motor area seizures with voluntary movements in two patients. The first case describes a 13-year-old boy with a 2-year history of nocturnal seizures, characterized by an asymmetrical brief tonic posture followed by bilateral rapid hand shaking, but without impaired awareness.
Shades of a channelopathy�Hypoperfusion, excitability, or both: A case video
Rutul Shah, Abhishek Gohel, Sagari Gullapalli, Navin Mathew, Siby Gopinath
doi : 10.1002/epd2.20025
Hot water epilepsy: A case report of a sporadic form of reflex epilepsy
Frederik Daems, Sarah Weckhuysen
doi : 10.1002/epd2.20029
Myoclonic status epilepticus in patients with juvenile myoclonic epilepsy: Case reports and review of the literature
Angelo Pascarella, Lucia Manzo, Oreste Marsico, Sara Gasparini, Alessandro Mechelli, Vittoria Cianci, Valentina Bova, Anna Mammì, Rossella Ieracitano, Umberto Aguglia, Edoardo Ferlazzo
doi : 10.1002/epd2.20042
Ictal bruxism in temporal lobe epilepsy with hippocampal sclerosis
Sita Jayalakshmi, Anuja Patil, Mihir Parekh, Sudhindra Vooturi, Sailaja Madigubba, Manas Panigrahi
doi : 10.1002/epd2.20053
Epilepsy with eyelid myoclonia
Chetan Sateesh Nayak, Tina Kiguradze, Fábio A. Nascimento, Robert E. Hogan
doi : 10.1002/epd2.20059
Eyelid myoclonia versus eyelid fluttering
Stephan Wüstenhagen, Stefan Juhl, Sándor Beniczky
doi : 10.1002/epd2.20067
