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epilepsy syndrome

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https://www.readbyqxmd.com/read/29350262/vagal-nerve-stimulation-for-medically-refractory-epilepsy-in-angelman-syndrome-a-series-of-three-cases
#1
REVIEW
Krystal L Tomei, Christine Y Mau, Michael Ghali, Jayoung Pak, Ira M Goldstein
BACKGROUND: We describe three children with Angelman syndrome and medically refractory epilepsy. METHODS: Case series of three pediatric patients with Angelman syndrome and medically refractory epilepsy. All three patients failed medical treatment and were recommended for vagal nerve stimulator (VNS) implantation. RESULTS: Following VNS implantation, all three patients experienced reduction in seizure frequency greater than that afforded by medication alone...
January 19, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29350182/the-role-of-eeg-in-the-diagnosis-and-classification-of-the-epilepsy-syndromes-a-tool-for-clinical-practice-by-the-ilae-neurophysiology-task-force-part-2
#2
Michalis Koutroumanidis, Alexis Arzimanoglou, Roberto Caraballo, Sushma Goyal, Anna Kaminska, Pramote Laoprasert, Hirokazu Oguni, Guido Rubboli, William Tatum, Pierre Thomas, Eugen Trinka, Luca Vignatelli, Solomon L Moshé
The concept of epilepsy syndromes, introduced in 1989, was defined as "clusters of signs and symptoms customarily occurring together". Definition of epilepsy syndromes based on electro-clinical features facilitated clinical practice and, whenever possible, clinical research in homogeneous groups of patients with epilepsies. Progress in the fields of neuroimaging and genetics made it rapidly clear that, although crucial, the electro-clinical description of epilepsy syndromes was not sufficient to allow much needed development of targeted therapies and a better understanding of the underlying pathophysiological mechanisms of seizures...
December 1, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29349679/autoimmune-encephalitis-associated-with-glutamic-acid-decarboxylase-antibodies-a-case-series
#3
Faruk Incecik, Ozlem M Herguner, Seyda Besen, Mustafa Yılmaz
Antibodies against glutamic acid decarboxylase (GAD) are associated with various neurologic conditions described in patients including stiff person syndrome, cerebellar ataxia, refractory epilepsy, limbic and extralimbic encephalitis. GAD antibodies-related limbic encephalitis cases are well described; reports of extralimbic involvement are limited. We describe four cases of GAD antibody-related autoimmune encephalitis. Three of them had extralimbic involvement and only one had limbic encephalitis.
January 18, 2018: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/29344465/grey-and-white-matter-alterations-in-juvenile-myoclonic-epilepsy-a-comprehensive-review
#4
REVIEW
Ji Hyun Kim
Juvenile myoclonic epilepsy (JME) has been classified as a syndrome of idiopathic generalized epilepsy and is characterized by a strong genetic basis, age-specific onset of seizures, specific types of seizures, generalized spike-wave discharges on electroencephalography, and a lack of focal abnormality on magnetic resonance imaging (MRI). Recently, a wide range of advanced neuroimaging techniques have been utilized to elucidate the neuroanatomical substrates and pathophysiological mechanisms underlying JME...
December 2017: Journal of Epilepsy Research
https://www.readbyqxmd.com/read/29344464/cannabinoids-in-the-treatment-of-epilepsy-hard-evidence-at-last
#5
REVIEW
Emilio Perucca
The interest in cannabis-based products for the treatment of refractory epilepsy has skyrocketed in recent years. Marijuana and other cannabis products with high content in Δ(9) - tetrahydrocannabinol (THC), utilized primarily for recreational purposes, are generally unsuitable for this indication, primarily because THC is associated with many undesired effects. Compared with THC, cannabidiol (CBD) shows a better defined anticonvulsant profile in animal models and is largely devoid of adverse psychoactive effects and abuse liability...
December 2017: Journal of Epilepsy Research
https://www.readbyqxmd.com/read/29341460/intellectual-disability-and-epilepsy-due-to-the-k-l-mediated-xq28-duplication-further-evidence-of-a-distinct-dosage-dependent-phenotype
#6
David Isum Ward, Bethany A Buckley, Eyby Leon, Jullianne Diaz, Margaret Faust Galegos, Sean Hofherr, Amy Feldman Lewanda
Copy number variants of the X-chromosome are a common cause of X-linked intellectual disability in males. Duplication of the Xq28 band has been known for over a decade to be the cause of the Lubs X-linked Mental Retardation Syndrome (OMIM 300620) in males and this duplication has been narrowed to a critical region containing only the genes MECP2 and IRAK1. In 2009, four families with a distal duplication of Xq28 not including MECP2 and mediated by low-copy repeats (LCRs) designated "K" and "L" were reported with intellectual disability and epilepsy...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29340132/effect-of-epilepsy-on-autism-symptoms-in-angelman-syndrome
#7
Kristin A Bakke, Patricia Howlin, Lars Retterstøl, Øivind J Kanavin, Arvid Heiberg, Terje Nærland
Background: Autism spectrum disorder and epilepsy often co-occur; however, the extent to which the association between autism symptoms and epilepsy is due to shared aetiology or to the direct effects of seizures is a topic of ongoing debate. Angelman syndrome (AS) is presented as a suitable disease model to explore this association. Methods: Data from medical records and questionnaires were used to examine the association between age of epilepsy onset, autism symptoms, genetic aberration and communication level...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29338930/neurologic-disorders-associated-with-anti-glutamic-acid-decarboxylase-antibodies-a-comparison-of-anti-gad-antibody-titers-and-time-dependent-changes-between-neurologic-disease-and-type-i-diabetes-mellitus
#8
Hideto Nakajima, Yoshitsugu Nakamura, Yuiko Inaba, Chiharu Tsutsumi, Kiichi Unoda, Takafumi Hosokawa, Fumiharu Kimura, Toshiaki Hanafusa, Masamichi Date, Haruko Kitaoka
To determine clinical features of neurologic disorders associated with anti-glutamic acid decarboxylase antibodies (anti-GAD-Ab), we examined titers and time-dependent changes of anti-GAD-Ab. Six patients, stiff person syndrome (2), cerebellar ataxia (1), limbic encephalitis (1), epilepsy (1), brainstem encephalitis (1), were compared with 87 type I diabetes mellitus (T1DM) patients without neurologic disorders. Anti-GAD-Ab titers and index were higher in neurologic disorders than in T1DM, suggesting intrathecal antibody synthesis...
January 9, 2018: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/29337455/-pediatrics-new-classification-of-seizures-and-epilepsies
#9
Sébastien Lebon, Éliane Roulet-Perez
The International League Against Epilepsy published a new classification of epileptic seizures and epilepsies. It is more transparent and important notions like etiologies and comorbities have been added. The identification of seizures, epilepsies then epilepsy syndromes constitutes the three steps of this classification.
January 10, 2018: Revue Médicale Suisse
https://www.readbyqxmd.com/read/29335539/brain-activity-patterns-in-high-throughput-electrophysiology-screen-predict-both%C3%A2-drug-efficacies-and-side-effects
#10
Peter M Eimon, Mostafa Ghannad-Rezaie, Gianluca De Rienzo, Amin Allalou, Yuelong Wu, Mu Gao, Ambrish Roy, Jeffrey Skolnick, Mehmet Fatih Yanik
Neurological drugs are often associated with serious side effects, yet drug screens typically focus only on efficacy. We demonstrate a novel paradigm utilizing high-throughput in vivo electrophysiology and brain activity patterns (BAPs). A platform with high sensitivity records local field potentials (LFPs) simultaneously from many zebrafish larvae over extended periods. We show that BAPs from larvae experiencing epileptic seizures or drug-induced side effects have substantially reduced complexity (entropy), similar to reduced LFP complexity observed in Parkinson's disease...
January 15, 2018: Nature Communications
https://www.readbyqxmd.com/read/29333839/-pa%C3%A3-ister-kiuian-syndrome-in-a-mexican-mestizo-patient-case-report
#11
Paola Mendelsberg-Fishbein, Constanza García-Delgado, Linda B Muñoz-Martínez, Maura Robledo-Cayetano, Leonardo J Mejía-Marín, Luis E Martínez-Barrera, Mabel Cerrillo-Hinojosa, Verónica F Moran-Barroso
Pallister-Killian syndrome is caused by a tetrasomy 12p mosaicism and is characterized by facial dysmorphism, pigmentary skin anomalies, congenital heart defects, diaphragmatic hernia, epilepsy and mental retardation. The diagnosis is complex as the cytogenetic analysis in blood is usually normal, requiring karyotyping in other tissues, therefore the clinical suspicion is critical to guide the diagnostic tests and the patient requires an interdisciplinary clinical evaluation regarding the several manifestation of the syndrome...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29332084/thalamic-deep-brain-stimulation
#12
Benjamin B Whiting, Alexander C Whiting, Donald M Whiting
The use of deep brain stimulation (DBS) of the thalamus has been proven to be a safe and efficacious treatment for the management of many diseases. The most common indication for thalamic DBS remains essential tremor (ET), one of the most common movement disorders in the world. ET patients should be considered for surgical intervention when their tremor has demonstrated to be refractory to medication, a characteristic estimated to be present in roughly 50% of ET cases. Advantages of DBS over thalamotomy include its reversibility, the ability to adjust stimulation settings to optimize efficacy and minimize side effects, the ability to perform bilateral procedures safely, and an association with a lower risk of postoperative cognitive problems...
2018: Progress in Neurological Surgery
https://www.readbyqxmd.com/read/29331789/anticonvulsant-activities-of-%C3%AE-asaronol-e-3-hydroxyasarone-an-active-constituent-derived-from-%C3%AE-asarone
#13
Xirui He, Yajun Bai, Min Zeng, Zefeng Zhao, Qiang Zhang, Ning Xu, Fanggang Qin, Xiaoyang Wei, Meimei Zhao, Ni Wu, Zehua Li, Yajun Zhang, Tai-Ping Fan, Xiaohui Zheng
BACKGROUND: Epilepsy is one of chronic neurological disorders that affects 0.5-1.0% of the world's population during their lifetime. There is a still significant need to develop novel anticonvulsant drugs that possess superior efficacy, broad spectrum of activities and good safety profile. METHODS: α-Asaronol and two current antiseizure drugs (α-asarone and carbamazepine (CBZ)) were assessed by in vivo anticonvulsant screening with the three most employed standard animal seizure models, including maximal electroshock seizure (MES), subcutaneous injection-pentylenetetrazole (PTZ)-induced seizures and 3-mercaptopropionic acid (3-MP)-induced seizures in mice...
August 31, 2017: Pharmacological Reports: PR
https://www.readbyqxmd.com/read/29331082/mechanistic-target-of-rapamycin-complex-1-and-2-in-human-temporal-lobe-epilepsy
#14
Delia M Talos, Leah M Jacobs, Sarah Gourmaud, Carlos A Coto, Hongyu Sun, Kuei-Cheng Lim, Timothy H Lucas, Kathryn A Davis, Maria Martinez-Lage, Frances E Jensen
OBJECTIVE: Temporal lobe epilepsy (TLE) is a chronic epilepsy syndrome defined by seizures and progressive neurological disabilities, including cognitive impairments, anxiety and depression. Here, human TLE specimens were investigated focusing on the mechanistic target of rapamycin (mTOR) Complex 1 (mTORC1) and Complex 2 (mTORC2) activities in the brain, as both pathways may represent unique targets for treatment. METHODS: Surgically resected hippocampal and temporal lobe samples from therapy-resistant TLE patients were analyzed by Western blotting to quantify the expression of established mTORC1 and mTORC2 activity markers and upstream or downstream signaling pathways involving the two complexes...
January 13, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29329111/severe-peri-ictal-respiratory-dysfunction-is-common-in-dravet-syndrome
#15
YuJaung Kim, Eduardo Bravo, Caitlin K Thirnbeck, Lori A Smith-Mellecker, Se Hee Kim, Brian K Gehlbach, Linda C Laux, Douglas R Nordli Jr, George B Richerson
Dravet syndrome (DS) is a severe childhood-onset epilepsy commonly due to mutations of the sodium channel gene SCN1A. DS patients have a high risk of sudden unexplained death in epilepsy (SUDEP), believed to be due to cardiac mechanisms. Here we show that DS patients have peri-ictal respiratory dysfunction. One patient who had severe and prolonged postictal hypoventilation later died of SUDEP. Mice with an Scn1aR1407X/+ loss of function mutation died after spontaneous and heat-induced seizures due to central apnea followed by progressive bradycardia...
January 11, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29325826/myoclonic-absence-seizures-with-complex-gestural-automatisms
#16
Kenneth A Myers, Ingrid E Scheffer
Epilepsy with myoclonic absences is a rare generalized epilepsy syndrome with distinctive seizures. Two unrelated children had mild developmental impairment and onset of myoclonic-absences at 3 and 8 years. Seizures were characterized by bilateral 3 Hz myoclonic jerks superimposed on tonic abduction of the upper limbs. Events lasted 10-60 s, and complex gestural automatisms were often observed; in one case, a boy undid his seatbelt and attempted to exit a moving vehicle. Post-ictally, both children immediately regained awareness without recollection of their actions...
December 19, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29325791/the-therapeutic-effects-of-cannabis-and-cannabinoids-an-update-from-the-national-academies-of-sciences-engineering-and-medicine-report
#17
REVIEW
Donald I Abrams
The National Academies of Sciences, Engineering and Medicine conducted a rapid turn-around comprehensive review of recent medical literature on The Health Effects of Cannabis and Cannabinoids. The 16-member committee adopted the key features of a systematic review process, conducting an extensive search of relevant databases and considered 10,000 recent abstracts to determine their relevance. Primacy was given to recently published systematic reviews and primary research that studied one of the committee's 11 prioritized health endpoints- therapeutic effects; cancer incidence; cardiometabolic risk; respiratory disease; immune function; injury and death; prenatal, perinatal and postnatal outcomes; psychosocial outcomes; mental health; problem Cannabis use; and Cannabis use and abuse of other substances...
January 8, 2018: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/29322880/reversible-splenial-lesion-syndrome-due-to-oxcarbazepine-withdrawal-case-report-and-literature-review
#18
Chaoyang Jing, Lichao Sun, Zhuo Wang, Chaojia Chu, Weihong Lin
Background Reversible splenial lesion syndrome is a distinct entity radiologically characterized by a reversible lesion in the splenium of the corpus callosum. According to previous reports, this condition may be associated with antiepileptic drug use or withdrawal. We herein report a case of reversible splenial lesion syndrome associated with oxcarbazepine withdrawal. Case Report A 39-year-old man presented with an 8-year history of epileptic seizures. During the previous 3 years, he had taken oxcarbazepine irregularly...
January 1, 2018: Journal of International Medical Research
https://www.readbyqxmd.com/read/29322654/brand-to-generic-levetiracetam-switching-a-four-years-prospective-observational-real-life-study
#19
Michele Trimboli, Emilio Russo, Laura Mumoli, Giovanni Tripepi, Francesco Fortunato, Giovanni Mastroianni, Francesca Abate, Giovambattista De Sarro, Antonio Gambardella, Angelo Labate
BACKGROUND: The purpose of this study was to determine whether the switching from branded levetiracetam (LEV; ® Keppra) to a LEV generic equivalent product (® Matever) in an epilepsy cohort could result adequate in terms of seizures control and tolerability. METHODS: To be eligible for the study, patients were taking ® Keppra as monotherapy or polytherapy for at least six months. Since March 2013 to April 2017, patients were proposed to switch to ® Matever as part of their follow-up...
January 11, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29322246/de-novo-variants-in-setd1b-are-associated-with-intellectual-disability-epilepsy-and-autism
#20
Takuya Hiraide, Mitsuko Nakashima, Kaori Yamoto, Tokiko Fukuda, Mitsuhiro Kato, Hiroko Ikeda, Yoko Sugie, Kazushi Aoto, Tadashi Kaname, Kazuhiko Nakabayashi, Tsutomu Ogata, Naomichi Matsumoto, Hirotomo Saitsu
SETD1B (SET domain containing 1B) is a component of SET1 histone methyltransferase complex, which mediates the methylation of histone H3 on lysine 4 (H3K4). Here, we describe two unrelated individuals with de novo variants in SETD1B identified by trio-based whole exome sequencing: c.5524C>T, p.(Arg1842Trp) and c.5575C>T, p.(Arg1859Cy). The two missense variants occurred at evolutionarily conserved amino acids and are located within the SET domain, which plays a pivotal role in catalyzing histone methylation...
January 10, 2018: Human Genetics
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