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Myoclonic atonic epilepsy

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https://www.readbyqxmd.com/read/28632327/photosensitivity-is-an-early-marker-of-neuronal-ceroid-lipofuscinosis-type-2-disease
#1
Nicola Specchio, Marcello Bellusci, Nicola Pietrafusa, Marina Trivisano, Luca de Palma, Federico Vigevano
OBJECTIVE: This study aimed to identify early clinical, magnetic resonance imaging (MRI), and electroencephalographic (EEG) characteristics of neuronal ceroid lipofuscinosis type 2 (CLN2) disease to enable early diagnosis, thus providing the key to early treatment, and optimized care and outcomes. METHODS: Retrospective clinical chart review of a series of patients diagnosed with CLN2 disease from 2005 to 2015 at a single center in Italy. Clinical, MRI, and EEG findings were reviewed...
June 20, 2017: Epilepsia
https://www.readbyqxmd.com/read/28511630/corpus-callosotomy-for-intractable-epilepsy-revisited-the-children-s-hospital-of-michigan-series
#2
Aimee F Luat, Eishi Asano, Ajay Kumar, Harry T Chugani, Sandeep Sood
Corpus callosotomy is a palliative procedure performed to reduce the severity of drug-resistant epilepsy. The authors assessed its efficacy on different seizure types in 20 subjects (age range 5-19 years); 8 with active vagus nerve stimulator. Fifteen had complete callosotomy, 3 had anterior 2/3, and 2 had anterior 2/3 followed later by complete callosotomy. Ten had endoscopic approach. In all, 65% had ≥ 50% reduction of generalized seizures leading to falls (atonic, tonic, myoclonic); 35% became seizure-free (follow-up period: 6 months to 9 years; mean 3 years)...
June 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28425015/the-new-classification-of-seizures-by-the-international-league-against-epilepsy-2017
#3
REVIEW
Robert S Fisher
PURPOSE OF REVIEW: This review presents the newly developed International League Against Epilepsy (ILAE) 2017 classification of seizure types. RECENT FINDINGS: The fundamental distinction is between seizures that begin focally in one hemisphere of the brain, generalized onset seizures that apparently originate in both hemispheres, and seizures of unknown onset. Focal seizures optionally can be subclassified according to whether awareness (a surrogate marker for consciousness) is intact or impaired...
June 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28379373/genetic-and-phenotypic-heterogeneity-suggest-therapeutic-implications-in-scn2a-related-disorders
#4
Markus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaetan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard, Alexandra Afenjar, Sandra Chantot-Bastaraud, Cyril Mignot, Caroline Lardennois, Caroline Nava, Niklas Schwarz, Marion Gérard, Laurence Perrin, Diane Doummar, Stéphane Auvin, Maria J Miranda, Maja Hempel, Eva Brilstra, Nine Knoers, Nienke Verbeek, Marjan van Kempen, Kees P Braun, Grazia Mancini, Saskia Biskup, Konstanze Hörtnagel, Miriam Döcker, Thomas Bast, Tobias Loddenkemper, Lily Wong-Kisiel, Friedrich M Baumeister, Walid Fazeli, Pasquale Striano, Robertino Dilena, Elena Fontana, Federico Zara, Gerhard Kurlemann, Joerg Klepper, Jess G Thoene, Daniel H Arndt, Nicolas Deconinck, Thomas Schmitt-Mechelke, Oliver Maier, Hiltrud Muhle, Beverly Wical, Claudio Finetti, Reinhard Brückner, Joachim Pietz, Günther Golla, Dinesh Jillella, Karen M Linnet, Perrine Charles, Ute Moog, Eve Õiglane-Shlik, John F Mantovani, Kristen Park, Marie Deprez, Damien Lederer, Sandrine Mary, Emmanuel Scalais, Laila Selim, Rudy Van Coster, Lieven Lagae, Marina Nikanorova, Helle Hjalgrim, G Christoph Korenke, Marina Trivisano, Nicola Specchio, Berten Ceulemans, Thomas Dorn, Katherine L Helbig, Katia Hardies, Hannah Stamberger, Peter de Jonghe, Sarah Weckhuysen, Johannes R Lemke, Ingeborg Krägeloh-Mann, Ingo Helbig, Gerhard Kluger, Holger Lerche, Rikke S Møller
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients. We found that (i) encephalopathies with infantile/childhood onset epilepsies (≥3 months of age) occur almost as often as those with an early infantile onset (<3 months), and are thus more frequent than previously reported; (ii) distinct phenotypes can be seen within the late onset group, including myoclonic-atonic epilepsy (two patients), Lennox-Gastaut not emerging from West syndrome (two patients), and focal epilepsies with an electrical status epilepticus during slow sleep-like EEG pattern (six patients); and (iii) West syndrome constitutes a common phenotype with a major recurring mutation (p...
March 4, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28296376/-lafora-disease-presentation-two-cases-in-a-mexican-family
#5
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/28276064/instruction-manual-for-the-ilae-2017-operational-classification-of-seizure-types
#6
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...
April 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
#7
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...
April 2017: Epilepsia
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
#8
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/28053010/mutations-in-gabrb3-from-febrile-seizures-to-epileptic-encephalopathies
#9
Rikke S Møller, Thomas V Wuttke, Ingo Helbig, Carla Marini, Katrine M Johannesen, Eva H Brilstra, Ulvi Vaher, Ingo Borggraefe, Inga Talvik, Tiina Talvik, Gerhard Kluger, Laurence L Francois, Gaetan Lesca, Julitta de Bellescize, Susanne Blichfeldt, Nicolas Chatron, Nils Holert, Julia Jacobs, Marielle Swinkels, Cornelia Betzler, Steffen Syrbe, Marina Nikanorova, Candace T Myers, Line H G Larsen, Sabina Vejzovic, Manuela Pendziwiat, Sarah von Spiczak, Sarah Hopkins, Holly Dubbs, Yuan Mang, Konstantin Mukhin, Hans Holthausen, Koen L van Gassen, Hans A Dahl, Niels Tommerup, Heather C Mefford, Guido Rubboli, Renzo Guerrini, Johannes R Lemke, Holger Lerche, Hiltrud Muhle, Snezana Maljevic
OBJECTIVE: To examine the role of mutations in GABRB3 encoding the β3 subunit of the GABAA receptor in individual patients with epilepsy with regard to causality, the spectrum of genetic variants, their pathophysiology, and associated phenotypes. METHODS: We performed massive parallel sequencing of GABRB3 in 416 patients with a range of epileptic encephalopathies and childhood-onset epilepsies and recruited additional patients with epilepsy with GABRB3 mutations from other research and diagnostic programs...
January 31, 2017: Neurology
https://www.readbyqxmd.com/read/27790834/low-dose-fenfluramine-significantly-reduces-seizure-frequency-in-dravet-syndrome-a-prospective-study-of-a-new-cohort-of-patients
#10
A Schoonjans, B P Paelinck, F Marchau, B Gunning, A Gammaitoni, B S Galer, L Lagae, B Ceulemans
BACKGROUND AND PURPOSE: Dravet syndrome (DS) is a severe, drug-resistant epilepsy. Fenfluramine has been reported to have a long-term clinically meaningful anticonvulsive effect in patients with DS. METHODS: This prospective, open-label study assessed the safety and effectiveness of low-dose fenfluramine in a new cohort of patients with DS. Following a 3-month baseline period, fenfluramine was added to each patient's current antiepileptic drug regimen at a dose of 0...
February 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/27665735/the-molecular-and-phenotypic-spectrum-of-iqsec2-related-epilepsy
#11
Ayelet Zerem, Kazuhiro Haginoya, Dorit Lev, Lubov Blumkin, Sara Kivity, Ilan Linder, Cheryl Shoubridge, Elizabeth Emma Palmer, Michael Field, Jackie Boyle, David Chitayat, William D Gaillard, Eric H Kossoff, Marjolaine Willems, David Geneviève, Frederic Tran-Mau-Them, Orna Epstein, Eli Heyman, Sarah Dugan, Alice Masurel-Paulet, Ame'lie Piton, Tjitske Kleefstra, Rolph Pfundt, Ryo Sato, Andreas Tzschach, Naomichi Matsumoto, Hirotomo Saitsu, Esther Leshinsky-Silver, Tally Lerman-Sagie
OBJECTIVE: IQSEC2 is an X-linked gene associated with intellectual disability (ID) and epilepsy. Herein we characterize the epilepsy/epileptic encephalopathy of patients with IQSEC2 pathogenic variants. METHODS: Forty-eight patients with IQSEC2 variants were identified worldwide through Medline search. Two patients were recruited from our early onset epileptic encephalopathy cohort and one patient from personal communication. The 18 patients who have epilepsy in addition to ID are the subject of this study...
November 2016: Epilepsia
https://www.readbyqxmd.com/read/27600546/slc6a1-mutation-and-ketogenic-diet-in-epilepsy-with-myoclonic-atonic-seizures
#12
Samantha Palmer, Meghan C Towne, Phillip L Pearl, Renee C Pelletier, Casie A Genetti, Jiahai Shi, Alan H Beggs, Pankaj B Agrawal, Catherine A Brownstein
BACKGROUND: Epilepsy with myoclonic-atonic seizures, also known as myoclonic-astatic epilepsy or Doose syndrome, has been recently linked to variants in the SLC6A1 gene. Epilepsy with myoclonic-atonic seizures is often refractory to antiepileptic drugs, and the ketogenic diet is known for treating medically intractable seizures, although the mechanism of action is largely unknown. We report a novel SLC6A1 variant in a patient with epilepsy with myoclonic-atonic seizures, analyze its effects, and suggest a mechanism of action for the ketogenic diet...
November 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27506632/epileptic-spasms-in-epilepsy-with-myoclonic-atonic-seizures-doose-syndrome
#13
Francesca Pittau, Christian M Korff, Douglas R Nordli
AIM: To describe the occurrence of epileptic spasms in epilepsy with myoclonic-atonic seizures (EMAS) or Doose syndrome. METHODS: Case descriptions of patients with EMAS and epileptic spasms. Diagnosis of EMAS was performed according to the following criteria: (1) onset of myoclonic, myoclonic-atonic, or atonic seizures at between 7 months and 6 years of age; (2) normal development before onset of epilepsy; (3) absence of structural cerebral abnormalities on MRI; (4) presence of generalized spike-waves or polyspike-waves on EEG; and (5) exclusion of other myoclonic epilepsies...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27206232/seizure-treatment-in-angelman-syndrome-a-case-series-from-the-angelman-syndrome-clinic-at-massachusetts-general-hospital
#14
Elias A Shaaya, Olivia R Grocott, Olivia Laing, Ronald L Thibert
Epilepsy is a common feature of Angelman syndrome (~80-90%), with the most common seizure types including myoclonic, atonic, atypical absence, focal, and generalized tonic-clonic. Seizure types are similar among the various genetic subtypes, but epilepsy in those with maternal deletions is more frequent and more refractory to medication. Treatment with older antiepileptic drugs such as valproic acid and clonazepam is effective, but these medications tend to have less favorable side effect profiles in Angelman syndrome compared with those in newer medications...
July 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27140809/sleep-wake-distribution-and-circadian-patterns-of-epileptic-seizures-in-children
#15
Esra Gurkas, Ayse Serdaroglu, Tugba Hirfanoglu, Ayse Kartal, Unsal Yılmaz, Erhan Bilir
BACKGROUND: Epilepsy is one of the most common chronic neurologic disorders. Daily periodicity of epileptic seizures has been known for over a century. The diurnal patterns of epileptic seizures have also been observed in studies. AIM: To investigate the sleep/wake cycle, day/night, and 24-h periodicity of various seizure subtypes and seizure onset localizations in children. METHODS: We analyzed the clinical seizures of 170 consecutive epilepsy patients who underwent video-electroencephalography (EEG) monitoring over the last 5 years...
July 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27082650/epileptic-spasms-in-clusters-and-associated-syndromes-other-than-west-syndrome-a-study-of-48-patients
#16
Roberto H Caraballo, Sebastian Fortini, Gabriela Reyes, Aliria Carpio Ruiz, Salvador Vazquez Sanchez Fuentes, Belen Ramos
OBJECTIVE: To study the different epilepsy syndromes that included epileptic spasms (ES) in clusters without hypsarrhythmia (WoH). METHODS: Between 2/1990 and 7/2013, we registered 48 patients with the electroclinical diagnostic criteria of ES in clusters WoH. RESULTS: We recognized two subgroups. In the first subgroup of 30 patients, ES started at a mean age of 10.6 months (range, 2-40 months). Ictal EEG recordings showed diffuse high-amplitude slow waves in 15 patients, diffuse slow waves followed by voltage attenuation in six patients, diffuse fast rhythms in five, diffuse slow waves with superimposed fast rhythms in three, and diffuse sharp waves in one...
July 2016: Epilepsy Research
https://www.readbyqxmd.com/read/26989088/genetic-and-neurodevelopmental-spectrum-of-syngap1-associated-intellectual-disability-and-epilepsy
#17
Cyril Mignot, Celina von Stülpnagel, Caroline Nava, Dorothée Ville, Damien Sanlaville, Gaetan Lesca, Agnès Rastetter, Benoit Gachet, Yannick Marie, G Christoph Korenke, Ingo Borggraefe, Dorota Hoffmann-Zacharska, Elżbieta Szczepanik, Mariola Rudzka-Dybała, Uluç Yiş, Hande Çağlayan, Arnaud Isapof, Isabelle Marey, Eleni Panagiotakaki, Christian Korff, Eva Rossier, Angelika Riess, Stefanie Beck-Woedl, Anita Rauch, Christiane Zweier, Juliane Hoyer, André Reis, Mikhail Mironov, Maria Bobylova, Konstantin Mukhin, Laura Hernandez-Hernandez, Bridget Maher, Sanjay Sisodiya, Marius Kuhn, Dieter Glaeser, Sarah Weckhuysen, Candace T Myers, Heather C Mefford, Konstanze Hörtnagel, Saskia Biskup, Johannes R Lemke, Delphine Héron, Gerhard Kluger, Christel Depienne
OBJECTIVE: We aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1 mutations and to investigate genotype-phenotype correlations. METHODS: We sequenced the exome or screened the exons of SYNGAP1 in a total of 251 patients with neurodevelopmental disorders. Molecular and clinical data from patients with SYNGAP1 mutations from other centres were also collected, focusing on developmental aspects and the associated epilepsy phenotype. A review of SYNGAP1 mutations published in the literature was also performed...
August 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/26958468/epilepsy-with-myoclonic-atonic-seizures-doose-syndrome-when-video-eeg-polygraphy-holds-the-key-to-syndrome-diagnosis
#18
Pinelopi Dragoumi, Fiona Chivers, Megan Brady, Sheila Craft, David Mushati, Gopalakrishnan Venkatachalam, Judith Helen Cross, Krishna B Das
An electroclinical epilepsy syndrome diagnosis enables physicians to predict outcomes as well as select appropriate treatment options. We report a child who presented with reflex myoclonus at the age of 9 months and was initially diagnosed with myoclonic epilepsy in infancy. After 9 years of medically resistant myoclonic seizures, extensive investigations, and emerging learning difficulties, she was referred for video-telemetry to characterize her seizures in an attempt to make a syndromic diagnosis. A three-day video-telemetry assessment was performed to document seizures...
2016: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/26955518/stereotactic-laser-ablation-of-the-splenium-for-intractable-epilepsy
#19
Allen L Ho, Kai J Miller, Sam Cartmell, Katherine Inoyama, Robert S Fisher, Casey H Halpern
Partial or complete corpus callosotomies have been applied, traditionally via open surgical or radiosurgical approaches, for the treatment of epilepsy in patients with multifocal tonic, atonic, or myoclonic seizures. Minimally invasive methods, such as MRI-guided laser interstitial thermal ablation (MTLA), are being employed to functionally remove or ablate seizure foci in the treatment of epilepsy. This therapy can achieve effectiveness similar to that of traditional resection, but with reduced morbidity compared with open surgery...
2016: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/26802095/multiplex-families-with-epilepsy-success-of-clinical-and-molecular-genetic-characterization
#20
Zaid Afawi, Karen L Oliver, Sara Kivity, Aziz Mazarib, Ilan Blatt, Miriam Y Neufeld, Katherine L Helbig, Hadassa Goldberg-Stern, Adel J Misk, Rachel Straussberg, Simri Walid, Muhammad Mahajnah, Tally Lerman-Sagie, Bruria Ben-Zeev, Esther Kahana, Rafik Masalha, Uri Kramer, Dana Ekstein, Zamir Shorer, Robyn H Wallace, Marie Mangelsdorf, James N MacPherson, Gemma L Carvill, Heather C Mefford, Graeme D Jackson, Ingrid E Scheffer, Melanie Bahlo, Jozef Gecz, Sarah E Heron, Mark Corbett, John C Mulley, Leanne M Dibbens, Amos D Korczyn, Samuel F Berkovic
OBJECTIVE: To analyze the clinical syndromes and inheritance patterns of multiplex families with epilepsy toward the ultimate aim of uncovering the underlying molecular genetic basis. METHODS: Following the referral of families with 2 or more relatives with epilepsy, individuals were classified into epilepsy syndromes. Families were classified into syndromes where at least 2 family members had a specific diagnosis. Pedigrees were analyzed and molecular genetic studies were performed as appropriate...
February 23, 2016: Neurology
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