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Myoclonic epilepsy

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https://www.readbyqxmd.com/read/30223294/refractory-juvenile-myoclonic-epilepsy-a-meta-analysis-of-prevalence-and-risk-factors
#1
Remi Stevelink, Bobby P C Koeleman, Josemir W Sander, Floor E Jansen, Kees P J Braun
BACKGROUND: Juvenile myoclonic epilepsy (JME) is a common epilepsy syndrome for which treatment response is generally assumed to be good. We aimed to determine the prevalence and prognostic risk factors for refractoriness of JME. METHODS: We systematically searched PubMed and Embase and included 43 eligible studies, reporting seizure outcome after anti-epileptic drug treatment JME cohorts. We defined refractory JME as persistence of any seizure despite AED treatment and performed a random-effects meta-analysis to assess the prevalence of refractory JME and of seizure-recurrence after AED withdrawal in individuals with well-controlled seizures...
September 17, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/30212743/exome-sequencing-in-adult-neurology-practice-challenges-and-rewards-in-a-mixed-resource-setting
#2
Madhu Nagappa, Parayil Sankaran Bindu, Sanjib Sinha, Pavagada S Mathuranath, Arun B Taly
OBJECTIVE: To share the experience of next-generation sequencing (NGS) in delineating molecular basis of neuro-genetic disorders in adults of Indian origin. PATIENTS AND METHODS: Adults (aged ≥18 years) evaluated in a single neurology unit at a tertiary-care teaching hospital between August 2014 and September 2016, underwent NGS for (i) sporadic occurrence of neurological disorder where an extensive search did not reveal an acquired cause or (ii) familial or sporadic, uncommon, seemingly genetic disorder where single monogenic cause could not be ascertained based on phenotype...
September 7, 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/30208654/correction-of-a-splicing-mutation-affecting-an-unverricht-lundborg-disease-patient-by-antisense-therapy
#3
Liliana Matos, Ana Joana Duarte, Diogo Ribeiro, João Chaves, Olga Amaral, Sandra Alves
Unverricht-Lundborg disease (ULD) is a common form of progressive myoclonic epilepsy caused by mutations in the cystatin B gene ( CSTB ) that encodes an inhibitor of several lysosomal cathepsins. Presently, only pharmacological treatment and psychosocial support are available for ULD patients. To overcome the pathogenic effect of the ULD splicing mutation c.66G>A (exon 1), we investigated whether an antisense oligonucleotide therapeutic strategy could correct the defect in patient cells. A specific locked nucleic acid (LNA) antisense oligonucleotide was designed to block a cryptic 5'ss in intron 1...
September 11, 2018: Genes
https://www.readbyqxmd.com/read/30208599/recent-advances-in-mitochondria-targeted-gene-delivery
#4
REVIEW
Yoon-Ha Jang, Kwang-Il Lim
Mitochondria are the energy-producing organelles of cells. Mitochondrial dysfunctions link to various syndromes and diseases including myoclonic epilepsy and ragged-red fiber disease (MERRF), Leigh syndrome (LS), and Leber hereditary optic neuropathy (LHON). Primary mitochondrial diseases often result from mutations of mitochondrial genomes and nuclear genes that encode the mitochondrial components. However, complete intracellular correction of the mutated genetic parts relevant to mitochondrial structures and functions is technically challenging...
September 11, 2018: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/30194086/long-read-sequencing-identified-intronic-repeat-expansions-in-samd12-from-chinese-pedigrees-affected-with-familial-cortical-myoclonic-tremor-with-epilepsy
#5
Sheng Zeng, Mei-Yun Zhang, Xue-Jing Wang, Zheng-Mao Hu, Jin-Chen Li, Nan Li, Jun-Ling Wang, Fan Liang, Qi Yang, Qian Liu, Li Fang, Jun-Wei Hao, Fu-Dong Shi, Xue-Bing Ding, Jun-Fang Teng, Xiao-Meng Yin, Hong Jiang, Wei-Ping Liao, Jing-Yu Liu, Kai Wang, Kun Xia, Bei-Sha Tang
BACKGROUND: The locus for familial cortical myoclonic tremor with epilepsy (FCMTE) has long been mapped to 8q24 in linkage studies, but the causative mutations remain unclear. Recently, expansions of intronic TTTCA and TTTTA repeat motifs within SAMD12 were found to be involved in the pathogenesis of FCMTE in Japanese pedigrees. We aim to identify the causative mutations of FCMTE in Chinese pedigrees. METHODS: We performed genetic linkage analysis by microsatellite markers in a five-generation Chinese pedigree with 55 members...
September 7, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/30180405/-clinical-phenotypes-of-tbc1d24-gene-related-epilepsy
#6
J Zhang, Y H Zhang, J Y Chen, L P Zhang, Q Zeng, X J Tian, Z X Yang, Y Wu, X L Yang, X R Wu
Objective: To summarize the clinical features of TBC1D24 gene mutations associated with epilepsy. Methods: All the patients with TBC1D24 gene compound heterozygous mutations were retrospectively collected at the Pediatric Department of Peking University First Hospital from March 2015 to July 2017, and the features of clinical manifestations, electroencephalogram, and neuroimaging were analyzed. Results: Eighteen cases with TBC1D24 gene compound heterozygous mutations were included. The age of seizure onset was 1 day to 8 months, and the median age was 90 days...
September 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/30171078/the-phenotype-of-scn8a-developmental-and-epileptic-encephalopathy
#7
Elena Gardella, Carla Marini, Marina Trivisano, Mark P Fitzgerald, Michael Alber, Katherine B Howell, Francesca Darra, Sabrina Siliquini, Bigna K Bölsterli, Silva Masnada, Anna Pichiecchio, Katrine M Johannesen, Birgit Jepsen, Elena Fontana, Gaia Anibaldi, Silvia Russo, Francesca Cogliati, Martino Montomoli, Nicola Specchio, Guido Rubboli, Pierangelo Veggiotti, Sandor Beniczky, Markus Wolff, Ingo Helbig, Federico Vigevano, Ingrid E Scheffer, Renzo Guerrini, Rikke S Møller
OBJECTIVE: To delineate the electroclinical features of SCN8A infantile developmental and epileptic encephalopathy (EIEE13, OMIM #614558). METHODS: Twenty-two patients, aged 19 months to 22 years, underwent electroclinical assessment. RESULTS: Sixteen of 22 patients had mildly delayed development since birth. Drug-resistant epilepsy started at a median age of 4 months, followed by developmental slowing, pyramidal/extrapyramidal signs (22/22), movement disorders (12/22), cortical blindness (17/22), sialorrhea, and severe gastrointestinal symptoms (15/22), worsening during early childhood and plateauing at age 5 to 9 years...
September 18, 2018: Neurology
https://www.readbyqxmd.com/read/30166763/clinical-characteristics-and-aetiology-of-early-childhood-epilepsy-a-single-centre-experience-in-saudi-arabia
#8
Noufa A Alonazi, Abdulrahman Alnemri, Ebtessam El Melegy, Noon Mohamed, Iman Talaat, Amany Hosny, Aisha Alonazi, Sarar Mohamed
Seizures in children and neonatal period have variety of causes; however, most of childhood seizures are idiopathic. The aim of this study was to review the causes of epilepsy in children presenting in the first 2 years of life using the International League Against Epilepsy classification released in 2010. This was a retrospective chart review study that was conducted at a tertiary center in Saudi Arabia. Two hundred and twenty-one patients were included in the study, 31 with conditions mimic epilepsy were excluded...
2018: Sudanese Journal of Paediatrics
https://www.readbyqxmd.com/read/30132828/slc6a1-variants-identified-in-epilepsy-patients-reduce-%C3%AE-aminobutyric-acid-transport
#9
Kari A Mattison, Kameryn M Butler, George Andrew S Inglis, Oshrat Dayan, Hanna Boussidan, Vikas Bhambhani, Bryan Philbrook, Cristina da Silva, John J Alexander, Baruch I Kanner, Andrew Escayg
Previous reports have identified SLC6A1 variants in patients with generalized epilepsies, such as myoclonic-atonic epilepsy and childhood absence epilepsy. However, to date, none of the identified SLC6A1 variants has been functionally tested for an effect on GAT-1 transporter activity. The purpose of this study was to determine the incidence of SLC6A1 variants in 460 unselected epilepsy patients and to evaluate the impact of the identified variants on γ-aminobutyric acid (GABA)transport. Targeted resequencing was used to screen 460 unselected epilepsy patients for variants in SLC6A1...
September 2018: Epilepsia
https://www.readbyqxmd.com/read/30128910/the-heart-in-m-3243a-g-carriers
#10
REVIEW
J Finsterer, S Zarrouk-Mahjoub
OBJECTIVES: Little is known about cardiac involvement in m.3243A>G variant carriers. Thus, this study aimed to assess type and frequency of cardiac disease in symptomatic and asymptomatic m.3243A>G carriers. METHODS: Systematic literature review. RESULTS: The m.3243A>G variant may manifest phenotypically as mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), maternally inherited diabetes and deafness (MIDD), myoclonic epilepsy with ragged red fiber (MERRF), Leigh syndrome, or MELAS/KSS (Kearns-Sayre syndrome) overlap...
August 20, 2018: Herz
https://www.readbyqxmd.com/read/30127718/a-loss-of-function-hcn4-mutation-associated-with-familial-benign-myoclonic-epilepsy-in-infancy-causes-increased-neuronal-excitability
#11
Giulia Campostrini, Jacopo C DiFrancesco, Barbara Castellotti, Raffaella Milanesi, Tomaso Gnecchi-Ruscone, Mattia Bonzanni, Annalisa Bucchi, Mirko Baruscotti, Carlo Ferrarese, Silvana Franceschetti, Laura Canafoglia, Francesca Ragona, Elena Freri, Angelo Labate, Antonio Gambardella, Cinzia Costa, Cinzia Gellera, Tiziana Granata, Andrea Barbuti, Dario DiFrancesco
HCN channels are highly expressed and functionally relevant in neurons and increasing evidence demonstrates their involvement in the etiology of human epilepsies. Among HCN isoforms, HCN4 is important in cardiac tissue, where it underlies pacemaker activity. Despite being expressed also in deep structures of the brain, mutations of this channel functionally shown to be associated with epilepsy have not been reported yet. Using Next Generation Sequencing for the screening of patients with idiopathic epilepsy, we identified the p...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/30124485/utility-of-skin-biopsy-in-a-case-of-progressive-myoclonic-epilepsy-answer
#12
Travis Frantz, Erica Fortson, Lindsay C Strowd
No abstract text is available yet for this article.
September 2018: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/30115503/glut-1-deficiency-presenting-with-seizures-and-reversible-leukoencephalopathy-on-mri-imaging
#13
Naila Ismayilova, Yael Hacohen, Andrew D MacKinnon, Frances Elmslie, Antonia Clarke
Glucose transporter type 1 (GLUT1) deficiency syndrome is a well recognised genetic neurometabolic disorder typically presenting with progressive encephalopathy, acquired microcephaly and drug-resistant epilepsy. Imaging is normal in the majority. Here we describe a 5-month-old boy who presented with motor delay, myoclonic jerks and tonic-clonic seizures. His MRI brain scan revealed confluent symmetrical T2 hyperintense signal abnormality in both anterior frontal lobes and delayed myelination. Neurometabolic screen revealed low CSF glucose and lactate levels...
February 9, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/30108280/ketogenic-diet-a-potentially-valuable-therapeutic-option-for-the-management-of-refractory-epilepsy-in-classical-neonatal-nonketotic-hyperglycinemia-a-case-report
#14
Maina P Kava, Annie Robertson, Lawrence Greed, Shanti Balasubramaniam
Nonketotic hyperglycinemia (NKH) is a devastating inborn error of glycine metabolism caused by deficient activity of the glycine cleavage enzyme. Classically, patients present with lethargy, hypotonia, myoclonic jerks, transient respiratory depression in the first week of life and often progress to death. Surviving infants have profound psychomotor retardation, refractory epilepsy and poor quality of life. Currently, no effective therapeutic avenues exist for severe NKH. Ketogenic diet (KD) has been trialled only in a small group of patients with neonatal NKH and early myoclonic encephalopathy, in whom significant improvements in seizure control were reported...
August 14, 2018: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/30078784/a-child-with-hyperekplexia-and-epileptic-myoclonus
#15
Lara Wadi, Yasser Medlej, Makram Obeid
Hyperekplexia is a rare neurogenetic disorder characterized by startle. Accurate diagnosis of this notorious mimicker of epilepsy is important to prevent life-threatening apnoea. We report a novel case of concomitant GLRA1-related hyperkeplexia and myoclonic epilepsy. A toddler with daily paroxysms of head drops and falls presented with epileptic myoclonus on EEG, however, whole-exome sequencing revealed hyperekplexia-related GLRA1 mutation. The boy eventually developed spells induced by noise and surprise...
August 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/30078644/use-of-flow-cytometry-for-diagnosis-of-epilepsy-associated-with-homozygous-pigw-variants
#16
Gretchen Kissel Foskett, Edgar Engleman, Jenna Klotz, Okmi Choi, Lorna Tolentino, Aaina Kochhar, Qian Zhou Yang, David A Stevenson
BACKGROUND: Biallelic variants in PIGW have been suggested to cause infantile spasms and hyperphosphatasia. PIGW encodes for a protein involved in the third step of glycosylphosphatidylinositol (GPI) synthesis. GPI anchored proteins are increasingly recognized as important structures for cellular interactions and neuronal development. METHODS: Molecular testing of PIGW was performed followed by fluorescence activating cell sorting analysis of granulocytes, lymphocytes, and monocytes, and compared to controls...
June 5, 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/30076047/the-glucose-transporter-type-1-glut1-syndromes
#17
REVIEW
Henner Koch, Yvonne G Weber
The glucose transporter type 1 (Glut1) is the most important energy carrier of the brain across the blood-brain barrier. In the early nineties, the first genetic defect of Glut1 was described and known as the Glut1 deficiency syndrome (Glut1-DS). It is characterized by early infantile seizures, developmental delay, microcephaly, and ataxia. Recently, milder variants have also been described. The clinical picture of Glut1 defects and the understanding of the pathophysiology of this disease have significantly grown...
July 31, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/30062784/perampanel-in-routine-clinical-use-in-idiopathic-generalized-epilepsy-the-12-month-general-study
#18
Vicente Villanueva, Javier Montoya, Ascension Castillo, José Á Mauri-Llerda, Pau Giner, Francisco J López-González, Anna Piera, Pedro Villanueva-Hernández, Vicente Bertol, Alejandro Garcia-Escrivá, Juan J Garcia-Peñas, Iñigo Garamendi, Patricia Esteve-Belloch, Juan J Baiges-Octavio, Júlia Miró, Mercè Falip, Mercedes Garcés, Asier Gómez, Francisco J Gil-López, Mar Carreño, Juan J Rodriguez-Uranga, Dulce Campos, Macarena Bonet, Rosa Querol, Albert Molins, Diego Tortosa, Javier Salas-Puig
OBJECTIVE: To analyze the effectiveness and tolerability of perampanel across different seizure types in routine clinical care of patients with idiopathic generalized epilepsy (IGE). METHODS: This multicenter, retrospective, 1-year observational study collected data from patient records at 21 specialist epilepsy units in Spain. All patients who were aged ≥12 years, prescribed perampanel before December 2016, and had a confirmed diagnosis of IGE were included. RESULTS: The population comprised 149 patients with IGE (60 with juvenile myoclonic epilepsy, 51 generalized tonic-clonic seizures [GTCS] only, 21 juvenile absence epilepsy, 10 childhood absence epilepsy, 6 adulthood absence epilepsy, and one Jeavons syndrome)...
September 2018: Epilepsia
https://www.readbyqxmd.com/read/30037584/successful-treatment-of-reflex-epilepsy-with-praxis-induction-by-stimulus-avoidance-only
#19
Zhe-Ren Tan, Fa-Fa Tian, Xiao-Yan Long, Chen Zhang, Yan-Yan Feng, Si-Yuan Zhang, Guo-Liang Li
PURPOSE: Reflex epilepsy is a type of epilepsy with seizures that are consistently triggered by a specific stimulus. Zipai is a Chinese ancient card game which has been popular in Southern China for hundreds of years. We sought to report and characterize clinical features of patients with reflex epilepsy evoked by playing Zipai. METHODS: We collected and analyzed clinical data of patients with Zipai-induced epilepsy. Patients were regarded as having Zipai-induced epilepsy if they suffered at least two seizure attack during the course of playing Zipai...
September 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/30029679/acid-ceramidase-deficiency-farber-disease-and-sma-pme
#20
REVIEW
Fabian P S Yu, Samuel Amintas, Thierry Levade, Jeffrey A Medin
Acid ceramidase (ACDase) deficiency is a spectrum of disorders that includes a rare lysosomal storage disorder called Farber disease (FD) and a rare epileptic disorder called spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). Both disorders are caused by mutations in the ASAH1 gene that encodes the lysosomal hydrolase that breaks down the bioactive lipid ceramide. To date, there have been fewer than 200 reported cases of FD and SMA-PME in the literature. Typical textbook manifestations of classical FD include the formation of subcutaneous nodules, accumulation of joint contractures, and development of a hoarse voice...
July 20, 2018: Orphanet Journal of Rare Diseases
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