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Myoclonic epilepsy

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https://www.readbyqxmd.com/read/28296376/-lafora-disease-presentation-two-cases-in-a-mexican-family
#1
María Guadalupe González-De la Rosa, Edith Alva-Moncayo
Myoclonic epilepsy, described in 1911 by Lafora and Glueck, is an autosomal recessive hereditary clinical-pathological entity, which begins at the end of childhood or during adolescence, presents atypical absences, generalized and atonic tonic-clonic seizures, which can evolve to the epileptic state. The diagnosis is confirmed trough the skin biopsy or trough determination of the protein laforine. In this paper we present the initial case of a patient in whom we confirm the diagnosis of progressive myoclonic epilepsy and in particular the Lafora disease, which due to the symptomatology and the knowledge of the case we were able to detect her sister's disease...
March 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28294187/neurophysiological-and-bold-signal-uncoupling-of-giant-somatosensory-evoked-potentials-in-progressive-myoclonic-epilepsy-a-case-series-study
#2
Silvia F Storti, Alessandra Del Felice, Laura Canafoglia, Emanuela Formaggio, Francesco Brigo, Franco Alessandrini, Luigi G Bongiovanni, Gloria Menegaz, Paolo Manganotti
In progressive myoclonic epilepsy (PME), a rare epileptic syndrome caused by a variety of genetic disorders, the combination of peripheral stimulation and functional magnetic resonance imaging (fMRI) can shed light on the mechanisms underlying cortical dysfunction. The aim of the study is to investigate sensorimotor network modifications in PME by assessing the relationship between neurophysiological findings and blood oxygen level dependent (BOLD) activation. Somatosensory-evoked potential (SSEP) obtained briefly before fMRI and BOLD activation during median-nerve electrical stimulation were recorded in four subjects with typical PME phenotype and compared with normative data...
March 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28292732/alternating-hemiplegia-and-epilepsia-partialis-continua-a-new-phenotype-for-a-novel-compound-tbc1d24-mutation
#3
Francesca Ragona, Barbara Castellotti, Barbara Salis, Stefania Magri, Jacopo C DiFrancesco, Nardo Nardocci, Silvana Franceschetti, Cinzia Gellera, Tiziana Granata
Mutations in the TBC1D24 gene (MIM 613577) cause familial infantile myoclonic epilepsy (FIME; 605021) and early infantile epileptic encephalopathy-16 (EIEE16; 615338), both inherited with an autosomal recessive trait. The TBC1D24 gene encodes a member of the TBC family domain proteins, involved in cell signaling and oxidative stress resistance. We studied, by a Next Generation Sequencing (NGS) target re-sequencing gene approach, the DNA of a 5 year-old girl, affected by recurrent attacks of Alternating Hemiplegia (AH) and by recurrent episodes of Epilepsia Partialis Continua (EPC)...
March 6, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28276064/instruction-manual-for-the-ilae-2017-operational-classification-of-seizure-types
#4
Robert S Fisher, J Helen Cross, Carol D'Souza, Jacqueline A French, Sheryl R Haut, Norimichi Higurashi, Edouard Hirsch, Floor E Jansen, Lieven Lagae, Solomon L Moshé, Jukka Peltola, Eliane Roulet Perez, Ingrid E Scheffer, Andreas Schulze-Bonhage, Ernest Somerville, Michael Sperling, Elza Márcia Yacubian, Sameer M Zuberi
This companion paper to the introduction of the International League Against Epilepsy (ILAE) 2017 classification of seizure types provides guidance on how to employ the classification. Illustration of the classification is enacted by tables, a glossary of relevant terms, mapping of old to new terms, suggested abbreviations, and examples. Basic and extended versions of the classification are available, depending on the desired degree of detail. Key signs and symptoms of seizures (semiology) are used as a basis for categories of seizures that are focal or generalized from onset or with unknown onset...
March 8, 2017: Epilepsia
https://www.readbyqxmd.com/read/28276060/operational-classification-of-seizure-types-by-the-international-league-against-epilepsy-position-paper-of-the-ilae-commission-for-classification-and-terminology
#5
Robert S Fisher, J Helen Cross, Jacqueline A French, Norimichi Higurashi, Edouard Hirsch, Floor E Jansen, Lieven Lagae, Solomon L Moshé, Jukka Peltola, Eliane Roulet Perez, Ingrid E Scheffer, Sameer M Zuberi
The International League Against Epilepsy (ILAE) presents a revised operational classification of seizure types. The purpose of such a revision is to recognize that some seizure types can have either a focal or generalized onset, to allow classification when the onset is unobserved, to include some missing seizure types, and to adopt more transparent names. Because current knowledge is insufficient to form a scientifically based classification, the 2017 Classification is operational (practical) and based on the 1981 Classification, extended in 2010...
March 8, 2017: Epilepsia
https://www.readbyqxmd.com/read/28264719/the-efficacy-of-the-modified-atkins-diet-in-north-sea-progressive-myoclonus-epilepsy-an-observational-prospective-open-label-study
#6
Martje E van Egmond, Amerins Weijenberg, Margreet E van Rijn, Jan Willem J Elting, Jeannette M Gelauff, Rodi Zutt, Deborah A Sival, Roald A Lambrechts, Marina A J Tijssen, Oebele F Brouwer, Tom J de Koning
BACKGROUND: North Sea Progressive Myoclonus Epilepsy is a rare and severe disorder caused by mutations in the GOSR2 gene. It is clinically characterized by progressive myoclonus, seizures, early-onset ataxia and areflexia. As in other progressive myoclonus epilepsies, the efficacy of antiepileptic drugs is disappointingly limited in North Sea Progressive Myoclonus Epilepsy. The ketogenic diet and the less restrictive modified Atkins diet have been proven to be effective in other drug-resistant epilepsy syndromes, including those with myoclonic seizures...
March 7, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28256379/outcome-of-childhood-onset-epilepsy-from-adolescence-to-adulthood-transition-issues
#7
REVIEW
R Nabbout, D M Andrade, N Bahi-Buisson, H Cross, I Desquerre, O Dulac, T Granata, E Hirsch, V Navarro, L Ouss, P L Pearl, D Schmidt, E Thiele, P R Camfield, C S Camfield
This is the second of three papers that summarize the second symposium on Transition in Epilepsies held in Paris in June 2016. This paper addresses the outcome for some particularly challenging childhood-onset epileptic disorders with the goal of recommending the best approach to transition. We have grouped these disorders in five categories with a few examples for each. The first group includes disorders presenting in childhood that may have late- or adult-onset epilepsy (metabolic and mitochondrial disorders)...
February 27, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28251733/whole-transcriptome-sequencing-in-blood-provides-a-diagnosis-of-spinal-muscular-atrophy-with-progressive-myoclonic-epilepsy-sma-pme
#8
Kristin D Kernohan, Laure Frésard, Zachary Zappala, Taila Hartley, Kevin S Smith, Justin Wagner, Hongbin Xu, Arran McBride, Pierre R Bourque, Care Rare Canada Consortium, Steffany A L Bennett, David A Dyment, Kym M Boycott, Stephen B Montgomery, Jodi Warman-Chardon
At least 15% of disease-causing mutations affect mRNA splicing. Many splicing mutations are missed in a clinical setting due to limitations of in silico prediction algorithms or their location in non-coding regions. Whole transcriptome sequencing is a promising new tool to identify these mutations; however, it will be a challenge to obtain disease relevant tissue for RNA. Here, we describe an individual with a sporadic atypical spinal muscular atrophy, in whom clinical DNA sequencing reported one pathogenic ASAH1 mutation (c...
March 2, 2017: Human Mutation
https://www.readbyqxmd.com/read/28246062/epilepsy-with-myoclonic-atonic-seizures-and-chronic-cerebellar-symptoms-associated-with-antibodies-against-glutamate-receptors-n2b-and-d2-in-serum-and-cerebrospinal-fluid
#9
Ryuki Matsuura, Shin-Ichiro Hamano, Satoru Ikemoto, Yuko Hirata, Kotoko Suzuki, Kenjiro Kikuchi, Yukitoshi Takahashi
A 3-year-old boy with normal development presented with acute cerebellitis at one year and 10 months of age. His truncal ataxia resolved without treatment. He experienced a relapse of truncal ataxia and atonic seizures at 2 years and one month of age. Five months later, he experienced myoclonic atonic seizures. By 3 years of age, the truncal ataxia had become severe, and the frequency of myoclonic atonic seizures increased. Compared to controls, we found higher levels of anti-C-terminal GluN2B and anti-N terminal GluD2 antibodies in the serum, and anti-N terminal GluN2B and anti-C terminal GluD2 antibodies in the cerebrospinal fluid (CSF)...
February 27, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28239547/unmasking-of-myoclonus-by-lacosamide-in-generalized-epilepsy
#10
Daniel Birnbaum, Mohamad Koubeissi
Lacosamide is a new-generation antiseizure medication that is approved for use as an adjunctive treatment and monotherapy in focal epilepsy. Its use in generalized epilepsy, however, has not been adequately evaluated in controlled trials. We report a 67-year-old woman who experienced new-onset myoclonic seizures after initiation of lacosamide. We presume that she had an undiagnosed generalized epilepsy syndrome, likely juvenile myoclonic epilepsy. Myoclonic seizures were not reported before introducing lacosamide and completely resolved after lacosamide was discontinued...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28237853/familial-cortical-myoclonic-tremor-and-epilepsy-description-of-a-new-south-african-pedigree-with-30-year-follow-up
#11
Riaan van Coller, Anne-Fleur van Rootselaar, Clara Schutte, C H van der Meyden
AIM: The aims of this study were to report the index case of a South African family with cortical myoclonic tremor and epilepsy, to describe the pedigree with the clinical findings and results of additional investigations, and to report the unique follow-up evaluation of affected and unaffected family members after 30 years. METHODS: The index case led to evaluation of the clinical files of patients from 1978/1979 and clinical assessment and investigation of patients from this cohort as well as newly identified family members...
February 21, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28237319/epilepsy-treatment-in-adults-and-adolescents-expert-opinion-2016
#12
REVIEW
Jerry J Shih, Julia B Whitlock, Nicole Chimato, Emily Vargas, Steven C Karceski, Ryan D Frank
INTRODUCTION: There are over twenty anti-seizure medications and anti-seizure devices available commercially in the United States. The multitude of treatment options for seizures can present a challenge to clinicians, especially those who are not subspecialists in the epilepsy field. Many clinical questions are not adequately answered in double-blind randomized controlled studies. In the presence of a knowledge gap, many clinicians consult a respected colleague with acknowledged expertise in the field...
February 22, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28229464/modified-atkins-diet-is-an-effective-treatment-for-children-with-doose-syndrome
#13
Adelheid Wiemer-Kruel, Edda Haberlandt, Hans Hartmann, Gabriele Wohlrab, Thomas Bast
OBJECTIVE: Children with myoclonic astatic epilepsy (MAE; Doose syndrome) whose seizures do not respond immediately to standard antiepileptic drugs (AEDs) are at high risk of developing an epileptic encephalopathy with cognitive decline. A classic ketogenic diet (KD) is a highly effective alternative to AEDs. To date, there are only limited data on the effectiveness of the modified Atkins diet (MAD), which is less restrictive and more compatible with daily life. We report findings from a retrospective study on 30 MAE patients treated with MAD...
February 23, 2017: Epilepsia
https://www.readbyqxmd.com/read/28228835/recurrent-alternate-sided-homonymous-hemianopia-due-to-mitochondrial-encephalomyopathy-with-lactic-acidosis-and-stroke-like-episodes-melas-a-case-report
#14
Kristen M Krysko, Arun N E Sundaram
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) can rarely cause alternate-sided homonymous hemianopia due to stroke-like episodes involving the occipital lobes, as reported in three previously published cases. The authors report an interesting case of a 16-year-old presenting with myoclonic epilepsy due to MELAS with the rare ND3 mitochondrial mutation T10191C, with recurrent alternate-sided homonymous hemianopia. Visual field and corresponding magnetic resonance imaging (MRI) findings are presented...
February 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/28223533/generalized-myoclonic-epilepsy-with-photosensitivity-in-juvenile-dogs-caused-by-a-defective-diras-family-gtpase-1
#15
Franziska Wielaender, Riika Sarviaho, Fiona James, Marjo K Hytönen, Miguel A Cortez, Gerhard Kluger, Lotta L E Koskinen, Meharji Arumilli, Marion Kornberg, Andrea Bathen-Noethen, Andrea Tipold, Kai Rentmeister, Sofie F M Bhatti, Velia Hülsmeyer, Irene C Boettcher, Carina Tästensen, Thomas Flegel, Elisabeth Dietschi, Tosso Leeb, Kaspar Matiasek, Andrea Fischer, Hannes Lohi
The clinical and electroencephalographic features of a canine generalized myoclonic epilepsy with photosensitivity and onset in young Rhodesian Ridgeback dogs (6 wk to 18 mo) are described. A fully penetrant recessive 4-bp deletion was identified in the DIRAS family GTPase 1 (DIRAS1) gene with an altered expression pattern of DIRAS1 protein in the affected brain. This neuronal DIRAS1 gene with a proposed role in cholinergic transmission provides not only a candidate for human myoclonic epilepsy but also insights into the disease etiology, while establishing a spontaneous model for future intervention studies and functional characterization...
March 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28215998/photosensitivity-in-generalized-epilepsies
#16
REVIEW
Shervonne Poleon, Jerzy P Szaflarski
Photosensitivity, which is the hallmark of photosensitive epilepsy (PSE), is described as an abnormal EEG response to visual stimuli known as a photoparoxysmal response (PPR). The PPR is a well-recognized phenomenon, occurring in 2-14% of patients with epilepsy but its pathophysiology is not clearly understood. PPR is electrographically described as 2-5Hz spike, spike-wave, or slow wave complexes with frontal and paracentral prevalence. Diagnosis of PPR is confirmed using intermittent photic stimulation (IPS) as well as video monitoring...
February 16, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28181916/4-phenylbutyric-acid-and-metformin-decrease-sensitivity-to-pentylenetetrazol-induced-seizures-in-a-malin-knockout-model-of-lafora-disease
#17
Gentzane Sánchez-Elexpuru, José M Serratosa, Pascual Sanz, Marina P Sánchez
Lafora disease (LD) is a rare adolescent-onset progressive myoclonic epilepsy caused by loss-of-function mutations either in the EPM2A gene encoding laforin or in the EPM2B gene encoding malin. Mouse models with deletion in the Epm2a or the Epm2b gene show intracellular aggregates of polyglucosans (Lafora bodies) and neurological complications that resemble those observed in patients with LD. In the absence of laforin or malin expression, mice also show different degrees of hyperexcitability, as reflected by an enhanced response to the convulsant drug pentylenetetrazol (PTZ)...
February 8, 2017: Neuroreport
https://www.readbyqxmd.com/read/28173825/myoclonic-seizure-prior-to-diagnosis-of-chronic-toxic-encephalopathy-a-case-report
#18
Wim L C Van Hooste
BACKGROUND: "Thinner" is a widely used industrial mixture of organic solvents. Exposure to organic solvents is usually not considered to be a possible cause of epilepsy, despite descriptions of toxic effects on the central nervous system. There are only a few reports about a possible epileptogenic effect of organic solvents exposure. We report a case of myoclonic seizure at the workplace that shows a remarkable coincidence between exposure to a thinner mixture and the occurrence of an epileptic seizure...
February 7, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28168129/a-quandary-of-cuprum-wilson-s-disease-disguising-as-progressive-myoclonic-epilepsy
#19
Monika Sachan, Suman Kushwaha, Shah Faisal Ahmad Tarfarosh, Vineet Banga, Ashutosh Gupta
Although metals are indispensable for the production of articles in our daily usage, the deposition of these metals in human tissue is known to cause disease. However, it is not always the ingestion of abnormal amounts of lead, iron, or copper that makes our tissues morbid; our hereditary and metabolic issues are to be blamed as well. Wilson's disease is one such hereditary disease that creates chaos in tissues, usually the brain and liver, via deposition of abnormal amounts of copper in them. While Wilson's disease almost seems to bring a picture of a young patient with dystonia and other extrapyramidal symptoms in our imagination, seizures are very uncommon in this disorder...
January 1, 2017: Curēus
https://www.readbyqxmd.com/read/28157601/prognostic-factors-in-patients-with-refractory-idiopathic-generalized-epilepsy
#20
A Gomez-Ibañez, R S McLachlan, S M Mirsattari, D C Diosy, J G Burneo
OBJECTIVE: Idiopathic generalized epilepsy (IGE) is an epileptic condition with good response to antiepileptic drugs (AED). Major syndromes are epilepsy with generalized tonic-clonic seizures (GTCS) alone, absence epilepsy and juvenile myoclonic epilepsy. However, clinical practice shows drug-resistant patients. Endpoint is to identify clinical features related with refractoriness in IGE and in its each individual syndrome. METHODS: We retrospectively collected 279 consecutive patients with IGE assessed in the Epilepsy Clinic of our institution...
February 2017: Epilepsy Research
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