Read by QxMD icon Read

Myoclonic astatic epilepsy

S Tang, E Hughes, K Lascelles, M A Simpson, D K Pal
We report a de novo SMARCA2 missense mutation discovered on exome sequencing in a patient with myoclonic astatic epilepsy, leading to reassessment and identification of Nicolaides-Baraitser syndrome. This de novo SMARCA2 missense mutation c.3721C>G, p.Gln1241Glu is the only reported mutation on exon 26 outside the ATPase domain of SMARCA2 to be associated with Nicolaides-Baraitser syndrome and adds to chromatin remodeling as a pathway for epileptogenesis. © 2016 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc...
September 26, 2016: American Journal of Medical Genetics. Part A
Andrew G Engel, Duygu Selcen, Xin-Ming Shen, Margherita Milone, C Michel Harper
OBJECTIVE: To identify the molecular basis of a fatal syndrome of microcephaly, cortical hyperexcitability, and myasthenia. METHODS: We performed clinical and in vitro microelectrode studies of neuromuscular transmission, examined neuromuscular junctions cytochemically and by electron microscopy (EM), and searched for mutations by Sanger and exome sequencing. RESULTS: Neuromuscular transmission was severely compromised by marked depletion of the readily releasable pool of quanta, but the probability of quantal release was normal...
October 2016: Neurology. Genetics
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...
July 28, 2016: Pediatric Neurology
Ludovica Pasca, Valentina De Giorgis, Joyce Ann Macasaet, Claudia Trentani, Anna Tagliabue, Pierangelo Veggiotti
UNLABELLED: Ketogenic diet is an established and effective non-pharmacologic treatment for drug-resistant epilepsy. Ketogenic diet represents the treatment of choice for GLUT-1 deficiency syndrome and pyruvate dehydrogenase complex deficiency. Infantile spasms, Dravet syndrome and myoclonic-astatic epilepsy are epilepsy syndromes for which ketogenic diet should be considered early in the therapeutic pathway. Recently, clinical indications for ketogenic diet have been increasing, as there is emerging evidence regarding safety and effectiveness...
October 2016: European Journal of Pediatrics
Verónica Cantarín-Extremera, María-Luz Ruíz-Falcó-Rojas, Amalia Tamaríz-Martel-Moreno, Marta García-Fernández, Anna Duat-Rodriguez, Belén Rivero-Martín
BACKGROUND: Epilepsy is a common disease in the world. Around 10-40% of patients who suffer epilepsy will have intractable seizures. When resective epilepsy surgery is not possible, vagus nerve stimulation (VNS) can be an option. The most common side effects associated with VSN therapy are hoarseness, throat pain and coughing. Cardiac arrhythmia has been reported during lead tests performed during implantation of the device, but few cases during regular treatment. We report a new child where vagally induced bradyarrhythmia, perfectly correlated with the stimulation periods...
July 2016: European Journal of Paediatric Neurology: EJPN
S Auvin
The ketogenic diet is a high-fat, low-protein, low-carbohydrate diet that has been employed as a non-pharmacologic therapy for refractory epilepsy. Several multicenter and two randomized studies have demonstrated the efficacy of the ketogenic diet and the modified Atkins diet for children and adolescent with pharmacoresitant epilepsy. In order to facilitate patient tolerability and palatability, the diet protocols are gradually modified including changes in ratios of the fat versus non-fat components and the initiation of the diet with or without fasting...
March 2016: Revue Neurologique
Alberto Grande-Martín, José Manuel Pardal-Fernández, María Carmen Carrascosa-Romero, Carlos De Cabo
Antiepileptic drugs may occasionally increase seizure frequency or eliciting de novo seizure occurrence; the underlying mechanism of these effects is not known. The potential adverse effects of valproic acid in myoclonic astatic epilepsy have been noted by experienced clinicians in various different regions of the world, but this important observation has not been sufficiently reported. We present the case of tonic status epilepticus in an 8-year-old boy with Doose syndrome related to valproic acid. Valproic acid, such as others antiepileptic drugs, is liable to produce paradoxical effects such as the atypical seizures we report...
June 2016: Neuropediatrics
Danique R M Vlaskamp, Patrick Rump, Petra M C Callenbach, Yvonne J Vos, Birgit Sikkema-Raddatz, Conny M A van Ravenswaaij-Arts, Oebele F Brouwer
We describe an 18-year-old male patient with myoclonic astatic epilepsy (MAE), moderate to severe intellectual disability, behavioural problems, several dysmorphisms and a 1.2-Mb de novo deletion on chromosome 16p11.2. This deletion results in haploinsufficiency of STX1B and other genes. Recently, variants in the STX1B gene have been associated with a wide spectrum of fever-related epilepsies ranging from single febrile seizures to severe epileptic encephalopathies. Two previously reported patients with a STX1B missense variant or deletion were diagnosed with MAE...
May 2016: European Journal of Paediatric Neurology: EJPN
V Ottaviani, A Bartocci, M Pantaleo, S Giglio, M Cecconi, A Verrotti, G Merla, G Stangoni, P Prontera
Myoclonicastatic epilepsy (MAE) is a rare form of symptomatic generalized epilepsy of uncertain etiology. To search the possible genetic basis of the disorder, here we investigate a 15 year-old patient with MAE, who is the only person presenting epilepsy in the family. High resolution array-CGH analysis was conducted on DNA extracted from peripheral blood of the patient and the parents. The copy number variant(s) (CNVs) identified were further confirmed by Fluorescent In Situ Hybridization (FISH). The array-CGH identified a de novo microduplication of about 778 Kb in the chromosome region 4q21...
2015: Genetic Counseling
Jan Larsen, Katrine Marie Johannesen, Jakob Ek, Shan Tang, Carla Marini, Susanne Blichfeldt, Maria Kibaek, Sarah von Spiczak, Sarah Weckhuysen, Mimoza Frangu, Bernd Axel Neubauer, Peter Uldall, Pasquale Striano, Federico Zara, Rebecca Kleiss, Michael Simpson, Hiltrud Muhle, Marina Nikanorova, Birgit Jepsen, Niels Tommerup, Ulrich Stephani, Renzo Guerrini, Morten Duno, Helle Hjalgrim, Deb Pal, Ingo Helbig, Rikke Steensbjerre Møller
The first mutations identified in SLC2A1, encoding the glucose transporter type 1 (GLUT1) protein of the blood-brain barrier, were associated with severe epileptic encephalopathy. Recently, dominant SLC2A1 mutations were found in rare autosomal dominant families with various forms of epilepsy including early onset absence epilepsy (EOAE), myoclonic astatic epilepsy (MAE), and genetic generalized epilepsy (GGE). Our study aimed to investigate the possible role of SLC2A1 in various forms of epilepsy including MAE and absence epilepsy with early onset...
December 2015: Epilepsia
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
Marta Białecka-Pikul, Ryszard Lauterbach, Dorota Pawlik
OBJECTIVES: The aim of the study was to evaluate the possible influence of a lipid emulsion containing DHA (docosahexaenoic polyunsaturated fatty acid), parenterally administered from the first day of life, on the psychological development of 3-year-old children born with very low birth weight (VLBW). It was suspected that an increased amount of DHA in parenteral nutrition may be a variable that modifies the relation between other medical or social factors and their influence on the child's development...
October 2014: Developmental Period Medicine
Iwona Terczyńska, Elżbieta Szczepanik, Kinga Duszyc, Paulina Górka, Renata Tataj, Dorota Hoffman-Zacharska
UNLABELLED: Diseases caused by mutations in SCN1A are currently named Genetic Epilepsies with Febrile Seizures Plus, and this term stands for expanded spectrum of syndrome previously called as GEFS+ (Generalized Epilepsy with Febrile Seizures Plus). SCN1A is the uniquely identified gene directly linked to specific type of epilepsy, and its testing has been included in the screening processes. THE AIM: To diagnose and describe epileptic syndromes caused by SCN1A mutations...
October 2014: Developmental Period Medicine
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
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
Elisabeth Simard-Tremblay, Patricia Berry, Aaron Owens, William Byron Cook, Haley R Sittner, Marta Mazzanti, Jennifer Huber, Molly Warner, Hillary Shurtleff, Russell P Saneto
PURPOSE: To determine the efficacy of the Modified Atkins Diet (MAD) and Ketogenic Diet (KD) in seizure control within a population of myoclonic-astatic epilepsy (MAE) patients. METHODS: This was a retrospective, single center study evaluating the seizure control by high fat diets. Seizure diaries kept by the parents performed seizure counts. All patients met the clinical criteria for MAE. RESULTS: Nine patients met the clinical criteria. We found that both the MAD and KD were efficacious in complete seizure control and allowed other medications to be stopped in seven patients...
February 2015: Seizure: the Journal of the British Epilepsy Association
Thomas Bast, Sarah Richter, Friedrich Ebinger, Dietz Rating, Adelheid Wiemer-Kruel, Susanne Schubert-Bast
This retrospective study included 54 children with epilepsy. The treatment consisted of four pulses with single doses of 20 mg/kg/d methylprednisolone (MPR), administered every week on 3 consecutive days. After this initial phase, the intervals between the pulses were increased based on individual factors. MPR pulses were administered exclusively orally in 39 patients and 7.8% of all pulses were applied intravenously. After four pulses, 30 of 54 (56%) patients were responders, according to several clinical and electroencephalography criteria...
December 2014: Neuropediatrics
Nicole M Aylward, Namrata Shah, Elizabeth A Sellers
Initiation of the ketogenic diet in a child with epilepsy and type 1 diabetes mellitus presents a challenge because the distinction between diet-induced ketosis and diabetic ketoacidosis is difficult to discern. We report the successful use of the ketogenic diet in a child with myoclonic astatic epilepsy and type 1 diabetes.
August 2014: Canadian Journal of Diabetes
Yasushi Itoh, Hirokazu Oguni, Yoshiko Hirano, Makiko Osawa
OBJECTIVES: We studied epileptic drop attacks (EDA) in symptomatic epilepsy of early childhood by means of video-polygraphic recordings and compared clinico-electrical differences in EDA among patients with idiopathic myoclonic-astatic epilepsy (MAE). SUBJECTS AND METHODS: Subjects consisted of 21 children with symptomatic epilepsy and 20 with idiopathic MAE whose EDA were documented at an age between 7 months and 6 years. The seizure types causing EDA as well as other demographic data were compared between the two epilepsy types...
January 2015: Brain & Development
Friederike Moeller, Kristina Groening, Jan Moehring, Hiltrud Muhle, Stephan Wolff, Olav Jansen, Ulrich Stephani, Michael Siniatchkin
OBJECTIVE: To identify neuronal networks underlying generalized spike and wave discharges (GSW) in myoclonic astatic epilepsy (MAE). METHODS: Simultaneous EEG-fMRI recordings were performed in 13 children with MAE. Individual GSW-associated blood oxygenation level-dependent (BOLD) signal changes were analyzed in every patient. A group analysis was performed to determine common syndrome-specific hemodynamic changes across all patients. RESULTS: GSW were recorded in 11 patients, all showing GSW-associated BOLD signal changes...
April 29, 2014: Neurology
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"