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Myoclonic atonic epilepsy

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
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
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
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
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
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
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
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
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 Wechuysen, 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
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
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
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
Anna Kelemen
Antiepileptic drugs can provoke and worsen seizures, what is called paradoxical effect. Paradoxical seizure worsening can occur as a nonspecific manifestation of drug intoxication in number of antiepileptic drugs. The other type is a specific type, when antiepileptic drugs with pure GABAergic and sodium channel blocker mechanism of action provoke myoclonic, absence and atonic seizures in specific epilepsy syndromes, mainly in idiopathic generalized epilepsies. Antiepileptic drug-induced exacerbation of seizures is a common, often unrecognized clinical problem, which can be avoided by a careful syndromic diagnosis and by using broad spectrum antiepileptic drugs...
March 30, 2015: Ideggyógyászati Szemle
Marina Trivisano, Pasquale Striano, Jacopo Sartorelli, Lucio Giordano, Monica Traverso, Patrizia Accorsi, Simona Cappelletti, Dianela Judith Claps, Federico Vigevano, Federico Zara, Nicola Specchio
Chromodomain helicase DNA-binding protein 2 (CHD2) gene mutations have been reported in patients with myoclonic-atonic epilepsy (MAE), as well as in patients with Lennox-Gastaut, Dravet, and Jeavons syndromes and other epileptic encephalopathies featuring generalized epilepsy and intellectual disability. The aim of this study was to assess the impact of CHD2 mutations in a series of patients with MAE. Twenty patients affected by MAE were included in the study. We analyzed antecedents, age at onset, seizure semiology and frequency, EEG, treatment, and neuropsychological outcome...
October 2015: Epilepsy & Behavior: E&B
Sachin Suresh Babu, Chindripu Sudhir Peter, Sobhana Mogadati, Phebe Miriam Joseph, Nishant Reddy, Priya Gupta
Doose syndrome, or epilepsy with myoclonic-atonic seizures, is a rare electroclinical syndrome. It is important to distinguish it from related epilepsy syndromes such as Lennox Gestaut syndrome and Dravet syndrome. We report the occurrence of this disorder in three siblings born of a non-consanguineous marriage.
November 2014: National Medical Journal of India
Fabio Tattoli, Daniela Falconi, Ornella De Prisco, Maurizio Gherzi, Federico Marazzi, Marita Marengo, Ilaria Serra, Michela Tamagnone, Marco Formica
The Lennox-Gastaut Syndrome (LGS) is a childhood epileptic encephalopathy. Incidence: 1/1.000.000/year, prevalence: 15/100.000. LGS covers 5-10% of epileptic patients and 1-2% of childhood epilepsies. Also referred to as cryptogenic or symptomatic generalized epilepsy. LGS is characterized by: multiple seizures (atypical absences, axial tonic seizures and sudden atonic or myoclonic falls), diffuse slow cryptic EEG waves when awake (<3 Hz), fast rhythmic peaks (10 Hz) during sleep, mental retardation and personality disorders...
May 2015: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
Yamane Makke, Ghassan Hmaimess, Wassim Nasreddine, Ahmad Fawaz, Ahmad Beydoun
BACKGROUND: Levetiracetam is a broad spectrum antiepileptic drug (AED) with proven efficacy when used as adjunctive therapy against myoclonic seizures. We report two patients suffering from epilepsy with myoclonic-astatic epilepsy (MAE) who experienced a paradoxical worsening of seizures after initiation of treatment with LEV, a finding not previously described. CASE PRESENTATION: Patients included were enrolled in an ongoing large prospective study evaluating children and adults with new onset epilepsy in Lebanon conducted at the American University of Beirut Medical Center in association with the Lebanese Chapter of the International League against Epilepsy...
2015: BMC Pediatrics
Gemma L Carvill, Jacinta M McMahon, Amy Schneider, Matthew Zemel, Candace T Myers, Julia Saykally, John Nguyen, Angela Robbiano, Federico Zara, Nicola Specchio, Oriano Mecarelli, Robert L Smith, Richard J Leventer, Rikke S Møller, Marina Nikanorova, Petia Dimova, Albena Jordanova, Steven Petrou, Ingo Helbig, Pasquale Striano, Sarah Weckhuysen, Samuel F Berkovic, Ingrid E Scheffer, Heather C Mefford
GAT-1, encoded by SLC6A1, is one of the major gamma-aminobutyric acid (GABA) transporters in the brain and is responsible for re-uptake of GABA from the synapse. In this study, targeted resequencing of 644 individuals with epileptic encephalopathies led to the identification of six SLC6A1 mutations in seven individuals, all of whom have epilepsy with myoclonic-atonic seizures (MAE). We describe two truncations and four missense alterations, all of which most likely lead to loss of function of GAT-1 and thus reduced GABA re-uptake from the synapse...
May 7, 2015: American Journal of Human Genetics
Tao Yu, Guojun Zhang, Yuping Wang, Duanyu Ni, Liang Qiao, Wei Du, Yuanyuan Piao, Yongjie Li
OBJECT: To study the role of epilepsy surgery for patients with focal lesions who exhibited the semiology of clinically generalised seizures. METHODS: From our epilepsy surgery series, we identified 29 patients who underwent surgery for seizures, including certain types of generalised seizures, according to their ictal semiology. We systematically reviewed the brain imaging, video-EEG, surgical operation, and pathological findings data of these patients. RESULTS: All patients had at least one type of generalised seizure according to the semiology; these seizures included epileptic spasms, myoclonic seizures, tonic seizures, atonic seizures and atypical absence seizures...
May 2015: Epilepsy Research
Yamane Makke, Ghassan Hmaimess, Wassim Nasreddine, Ahmad Fawaz, Ahmad Beydoun
BACKGROUND: Levetiracetam is a broad spectrum antiepileptic drug (AED) with proven efficacy when used as adjunctive therapy against myoclonic seizures. We report two patients suffering from epilepsy with myoclonic-astatic epilepsy (MAE) who experienced a paradoxical worsening of seizures after initiation of treatment with LEV, a finding not previously described. CASE PRESENTATION: Patients included were enrolled in an ongoing large prospective study evaluating children and adults with new onset epilepsy in Lebanon conducted at the American University of Beirut Medical Center in association with the Lebanese Chapter of the International League against Epilepsy...
December 2015: BMC Pediatrics
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