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Myoclonic epilepsy

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https://www.readbyqxmd.com/read/30003937/whole-exome-sequencing-reveals-novel-nov-and-dcaf13-variants-in-a-chinese-pedigree-with-familial-cortical-myoclonic-tremor-with-epilepsy
#1
Hua Lin, Ningning Hu, Yanfeng Zhang, Yuping Wang, Robert L Macdonald
OBJECTIVE: We report a large new family of familial cortical myoclonic tremor with epilepsy(FCMTE) from China and identify the possible causative gene(s) for the family. METHOD: Whole exome sequencing of blood genomic DNA from 4 patients and 2 unaffected family members were performed. Detected variants and their cosegregation were confirmed by Sanger sequencing. RESULTS: We identified c.20 G > C variant in the DCAF13 gene and c.983 T > C variant in the NOV gene cosegregating in the family...
July 9, 2018: Neuroscience Letters
https://www.readbyqxmd.com/read/30001564/epilepsy-in-biotinidase-deficiency-is-distinct-from-early-myoclonic-encephalopathy
#2
Ulviyya Guliyeva, Ilyas Okur, Olivier Dulac, Oktay Khalilov, Sugra Guliyeva
No abstract text is available yet for this article.
July 12, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29989221/in-silico-and-in-vivo-investigation-of-ferrocene-incorporated-acyl-ureas-and-homoleptic-cadmium-carboxylate-derivatives-for-anticonvulsant-anxiolytic-and-sedative-potential
#3
Sadia Adil, Arif-Ullah Khan, Haroon Badshah, Faiza Asghar, Muhammad Usman, Amin Badshah, Saqib Ali
In this study different derivatives of ferrocene-incorporated acyl ureas and homoleptic cadmium carboxylates were investigated for potential anticonvulsant, anxiolytic and sedative properties, using in-silico and in-vivo techniques. The molecular docking studies reveled that ferrocene compounds derivative 1-(4-bromobenzoyl)-3-(4-ferrocenylphenyl) urea (PB1) and cadmium compounds derivative bis (diphenylacetato) cadmium (II) (DPAA) exhibit binding affinities against various neurotherapeutic molecular targets involved in epilepsy, anxiety, and sedation...
June 2018: Drug Development Research
https://www.readbyqxmd.com/read/29979334/retinal-neuronal-loss-in-visually-asymptomatic-patients-with-myoclonic-epilepsy-with-ragged-red-fibers
#4
Raymond P Najjar, Pascal Reynier, Angélique Caignard, Vincent Procaccio, Patrizia Amati-Bonneau, Heather Mack, Dan Milea
BACKGROUND: Myoclonic epilepsy with ragged-red fibers (MERRF, OMIM, #545000) is a rare neurological condition mostly caused by the m.8344A>G mitochondrial DNA pathogenic variant, which can variably affect multiple tissues, including the retina and optic nerve. We report detection of visually asymptomatic neuroretinal loss in 3 patients with genetically confirmed MERRF, using spectral domain optical coherence tomography (SD-OCT). METHODS: All patients underwent a complete ophthalmic examination including assessments of visual acuity, color vision, pupillary reactions, extraocular movements, applanation tonometry, slit-lamp, and dilated fundus examinations...
July 3, 2018: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/29974457/evidence-of-linkage-to-chromosome-5p13-2-q11-1-in-a-large-inbred-family-with-genetic-generalized-epilepsy
#5
Demet Kinay, Karen L Oliver, Erdem Tüzün, John A Damiano, Canan Ulusoy, Eva Andermann, Michael S Hildebrand, Melanie Bahlo, Samuel F Berkovic
The clinical genetics of genetic generalized epilepsy suggests complex inheritance; large pedigrees, with multiple affected individuals, are rare exceptions. We studied a large consanguineous family from Turkey where extensive electroclinical phenotyping revealed a familial phenotype most closely resembling juvenile myoclonic epilepsy. For a subject to be considered affected (n = 14), a diagnostic electroencephalogram was required. Seizure onset ranged between 6 and 19 years (mean = 12 years). Thirteen of 14 experienced myoclonic jerks; in 11, this was associated with eyelid blinking, and in 10 it was interspersed with absences...
July 4, 2018: Epilepsia
https://www.readbyqxmd.com/read/29963004/changes-in-dynamics-within-and-between-resting-state-subnetworks-in-juvenile-myoclonic-epilepsy-occur-at-multiple-frequency-bands
#6
Zhe Zhang, Guangyao Liu, Zhijun Yao, Weihao Zheng, Yuanwei Xie, Tao Hu, Yu Zhao, Yue Yu, Ying Zou, Jie Shi, Jing Yang, Tiancheng Wang, Jing Zhang, Bin Hu
Time-varying connectivity analyses have indicated idiopathic generalized epilepsy (IGE) could cause significant abnormalities in dynamic connective pattern within and between resting-state sub-networks (RSNs). However, previous studies mainly focused on the IGE-induced dynamic changes of functional connectivity (FC) in specific frequency band (0.01-0.08 Hz or 0.01-0.15 Hz), ignoring the changes across different frequency bands. Here, 24 patients with IGE characterized by juvenile myoclonic epilepsy (JME) and 24 matched healthy controls were studied using a data-driven frequency decomposition approach and a sliding window approach...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29961512/neonatal-epileptic-encephalopathy-caused-by-de-novo-gnao1-mutation-misdiagnosed-as-atypical-rett-syndrome-cautions-in-interpretation-of-genomic-test-results
#7
Brittany Gerald, Keri Ramsey, Newell Belnap, Szabolcs Szelinger, Ashley L Siniard, Chris Balak, Megan Russell, Ryan Richholt, Matt De Both, Ana M Claasen, Isabelle Schrauwen, Matthew J Huentelman, David W Craig, Sampathkumar Rangasamy, Vinodh Narayanan
Epileptic encephalopathies are childhood brain disorders characterized by a variety of severe epilepsy syndromes that differ by the age of onset and seizure type. Until recently, the cause of many epileptic encephalopathies was unknown. Whole exome or whole genome sequencing has led to the identification of several causal genes in individuals with epileptic encephalopathy, and the list of genes has now expanded greatly. Genetic testing with epilepsy gene panels is now done quite early in the evaluation of children with epilepsy, following brain imaging, electroencephalogram, and metabolic profile...
July 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29958756/reduction-of-ipsilateral-thalamic-volume-in-temporal-lobe-epilepsy-with-hippocampal-sclerosis
#8
Kang Min Park, Tae Hyung Kim, Chi Woong Mun, Kyong Jin Shin, Sam Yeol Ha, JinSe Park, Byung In Lee, Ho-Joon Lee, Sung Eun Kim
The thalamus plays an important role in the modulation of both focal and generalized seizures, but the mechanisms related to seizures may be different among epilepsy syndromes. The aim of this study is to investigate the thalamic atrophy in different epilepsy syndromes. We enrolled a total of 72 patients with epilepsy (22 patients with temporal lobe epilepsy with hippocampal sclerosis, 21 patients with extra-temporal lobe epilepsy, and 29 patients with juvenile myoclonic epilepsy). We analyzed structural volumes of the brain with FreeSurfer 5...
June 26, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29948376/clinical-and-genetic-study-of-tunisian-families-with-genetic-generalized-epilepsy-contribution-of-cacna1h-and-mast4-genes
#9
Zied Landoulsi, Fatma Laatar, Eric Noé, Saloua Mrabet, Mouna Ben Djebara, Guillaume Achaz, Caroline Nava, Stéphanie Baulac, Imen Kacem, Amina Gargouri-Berrechid, Riadh Gouider, Eric Leguern
Genetic generalized epilepsies (GGE) (childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME) and epilepsy with generalized tonic-clonic seizures (GTCS)) are mainly determined by genetic factors. Since few mutations were identified in rare families with autosomal dominant GGE, a polygenic inheritance was suspected in most patients. Recent studies on large American or European cohorts of sporadic cases showed that susceptibility genes were numerous although their variants were rare, making their identification difficult...
June 12, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29943451/use-of-brivaracetam-in-genetic-generalized-epilepsies-and-for-acute-intravenous-treatment-of-absence-status-epilepticus
#10
Adam Strzelczyk, Lara Kay, Sebastian Bauer, Ilka Immisch, Karl Martin Klein, Susanne Knake, Alexander Kowski, Rhina Kunz, Gerhard Kurlemann, Lisa Langenbruch, Gabriel Möddel, Karen Müller-Schlüter, Philipp S Reif, Susanne Schubert-Bast, Bernhard J Steinhoff, Isabel Steinig, Laurent M Willems, Felix von Podewils, Felix Rosenow
OBJECTIVE: The objective of this study was to evaluate effectiveness, retention, and tolerability of brivaracetam (BRV) in genetic generalized epilepsies (GGE) in clinical practice. METHODS: A multicenter, retrospective cohort study recruiting all patients that started BRV in 2016 and 2017. RESULTS: A total of 61 patients (mean age = 29.8, range = 9-90 years, 41 female [67%]) were treated with BRV. They were difficult to control, with 2.4 failed antiepileptic drugs (AEDs) in the past, taking 1...
June 25, 2018: Epilepsia
https://www.readbyqxmd.com/read/29941710/a-novel-mutation-of-mitochondrial-t14709c-causes-myoclonic-epilepsy-with-ragged-red-fibers-syndrome-in-a-chinese-patient
#11
Rui Ban, Jun-Hong Guo, Chuan-Qiang Pu, Qiang Shi, Hua-Xu Liu, Yu-Tong Zhang
Background: Myoclonic epilepsy with ragged red fibers (MERRF) syndrome is characterized by myoclonus, generalized epilepsy, cerebellar ataxia, and ragged red fibers (RRFs) in the muscle. T-to-C transition at nucleotide position 14709 in the mitochondrial tRNA glutamic acid (tRNAGlu ) gene has previously been associated with maternally inherited diabetes and deafness. However, the association between MERRF and mitochondrial T14709C mutation (m.T14709C) has never been reported before. Methods: Clinical information of a 17-year-old patient was collected; muscle biopsy and next-generation sequencing (NGS) of whole mitochondrial and neuromuscular disease panel were then conducted...
July 5, 2018: Chinese Medical Journal
https://www.readbyqxmd.com/read/29939203/intronic-pentanucleotide-tttca-repeat-insertion-in-the-samd12-gene-causes-familial-cortical-myoclonic-tremor-with-epilepsy-type-1
#12
Zhidong Cen, Zhengwen Jiang, You Chen, Xiaosheng Zheng, Fei Xie, Xiaodong Yang, Xingjiao Lu, Zhiyuan Ouyang, Hongwei Wu, Si Chen, Houmin Yin, Xia Qiu, Shuang Wang, Meiping Ding, Yelei Tang, Feng Yu, Caihua Li, Tao Wang, Hiroyuki Ishiura, Shoji Tsuji, Chuan Jiao, Chunyu Liu, Jianfeng Xiao, Wei Luo
Familial cortical myoclonic tremor with epilepsy is an autosomal dominant neurodegenerative disease, characterized by cortical tremor and epileptic seizures. Although four subtypes (types 1-4) mapped on different chromosomes (8q24, 2p11.1-q12.2, 5p15.31-p15.1 and 3q26.32-3q28) have been reported, the causative gene has not yet been identified. Here, we report the genetic study in a cohort of 20 Chinese pedigrees with familial cortical myoclonic tremor with epilepsy. Linkage and haplotype analysis in 11 pedigrees revealed maximum two-point logarithm of the odds (LOD) scores from 1...
June 23, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29936867/progress-in-gene-and-cell-therapies-for-the-neuronal-ceroid-lipofuscinoses
#13
Anthony Donsante, Nicholas M Boulis
The neuronal ceroid lipofuscinoses (NCLs) are a subset of lysosomal storage diseases (LSDs) that cause myoclonic epilepsy, loss of cognitive and motor function, degeneration of the retina leading to blindness, and early death. Most are caused by loss-of-function mutations in either lysosomal proteins or transmembrane proteins. Current therapies are supportive in nature. NCLs involving lysosomal enzymes are amenable to therapies that provide an exogenous source of protein, as has been used for other LSDs. Those that involve transmembrane proteins, however, require new approaches...
June 23, 2018: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/29933571/the-bacterial-protein-cnf1-as-a-potential-therapeutic-strategy-against-mitochondrial-diseases-a-pilot-study
#14
Alessia Fabbri, Sara Travaglione, Zaira Maroccia, Marco Guidotti, Ciro Leonardo Pierri, Guido Primiano, Serenella Servidei, Stefano Loizzo, Carla Fiorentini
The Escherichia coli protein toxin cytotoxic necrotizing factor 1 (CNF1), which acts on the Rho GTPases that are key regulators of the actin cytoskeleton, is emerging as a potential therapeutic tool against certain neurological diseases characterized by cellular energy homeostasis impairment. In this brief communication, we show explorative results on the toxin’s effect on fibroblasts derived from a patient affected by myoclonic epilepsy with ragged-red fibers (MERRF) that carries a mutation in the m...
June 21, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29924869/multi-gene-panel-testing-in-korean-patients-with-common-genetic-generalized-epilepsy-syndromes
#15
Cha Gon Lee, Jeehun Lee, Munhyang Lee
Genetic heterogeneity of common genetic generalized epilepsy syndromes is frequently considered. The present study conducted a focused analysis of potential candidate or susceptibility genes for common genetic generalized epilepsy syndromes using multi-gene panel testing with next-generation sequencing. This study included patients with juvenile myoclonic epilepsy, juvenile absence epilepsy, and epilepsy with generalized tonic-clonic seizures alone. We identified pathogenic variants according to the American College of Medical Genetics and Genomics guidelines and identified susceptibility variants using case-control association analyses and family analyses for familial cases...
2018: PloS One
https://www.readbyqxmd.com/read/29905155/a-case-of-perioral-myoclonia-with-absences-and-its-evolution-in-adulthood
#16
Reyhan Surmelı, Hatice Kurucu, Ayse Destina Yalcın, Seher Naz Yenı
The rare syndrome of perioral myoclonia with absences (POMA) is described as a specific type of idiopathic generalized epilepsy in which absence seizures are accompanied by prominent perioral myoclonus as a consistent symptom. We present a 52-year-old man who was referred to our department due to treatment-resistant epilepsy. Typical seizures were described as rhythmic twitching of the lips which started at six years old, and his first convulsive seizure occurred at around 20 years old. Based on video-EEG recordings, we present two distinct EEG patterns accompanied by slight differences in clinical manifestations, which appear to be atypical of POMA...
June 15, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29899791/progressive-myoclonic-epilepsy-due-to-lafora-body-disease-with-a-novel-mutation
#17
Anil V Israni, Anirban Mandal
No abstract text is available yet for this article.
January 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29898974/practice-guideline-update-summary-efficacy-and-tolerability-of-the-new-antiepileptic-drugs-ii-treatment-resistant-epilepsy-report-of-the-guideline-development-dissemination-and-implementation-subcommittee-of-the-american-academy-of-neurology-and-the-american
#18
Andres M Kanner, Eric Ashman, David Gloss, Cynthia Harden, Blaise Bourgeois, Jocelyn F Bautista, Bassel Abou-Khalil, Evren Burakgazi-Dalkilic, Esmeralda Llanas Park, John Stern, Deborah Hirtz, Mark Nespeca, Barry Gidal, Edward Faught, Jacqueline French
OBJECTIVE: To update the 2004 American Academy of Neurology guideline for managing treatment-resistant (TR) epilepsy with second- and third-generation antiepileptic drugs (AEDs). METHODS: 2004 criteria were used to systemically review literature (January 2003 to November 2015), classify pertinent studies according to the therapeutic rating scheme, and link recommendations to evidence strength. RESULTS: Forty-two articles were included. RECOMMENDATIONS: The following are established as effective to reduce seizure frequency (Level A): immediate-release pregabalin and perampanel for TR adult focal epilepsy (TRAFE); vigabatrin for TRAFE (not first-line treatment); rufinamide for Lennox-Gastaut syndrome (LGS) (add-on therapy)...
June 13, 2018: Neurology
https://www.readbyqxmd.com/read/29898971/practice-guideline-update-summary-efficacy-and-tolerability-of-the-new-antiepileptic-drugs-i-treatment-of-new-onset-epilepsy-report-of-the-guideline-development-dissemination-and-implementation-subcommittee-of-the-american-academy-of-neurology-and-the-american
#19
Andres M Kanner, Eric Ashman, David Gloss, Cynthia Harden, Blaise Bourgeois, Jocelyn F Bautista, Bassel Abou-Khalil, Evren Burakgazi-Dalkilic, Esmeralda Llanas Park, John Stern, Deborah Hirtz, Mark Nespeca, Barry Gidal, Edward Faught, Jacqueline French
OBJECTIVE: To update the 2004 American Academy of Neurology (AAN) guideline for treating new-onset focal or generalized epilepsy with second- and third-generation antiepileptic drugs (AEDs). METHODS: The 2004 AAN criteria were used to systematically review literature (January 2003-November 2015), classify pertinent studies according to the therapeutic rating scheme, and link recommendations to evidence strength. RESULTS: Several second-generation AEDs are effective for new-onset focal epilepsy...
June 13, 2018: Neurology
https://www.readbyqxmd.com/read/29885874/two-cases-of-childhood-narcolepsy-mimicking-epileptic-seizures-in-video-eeg-emg
#20
Tomoe Yanagishita, Susumu Ito, Yui Ohtani, Kaoru Eto, Takashi Kanbayashi, Hirokazu Oguni, Satoru Nagata
Narcolepsy is characterized by excessive sleepiness, hypnagogic hallucinations, and sleep paralysis, and can occur with or without cataplexy. Here, we report two children with narcolepsy presenting with cataplexy mimicking epileptic seizures as determined by long-term video-electroencephalography (EEG) and electromyography (EMG) monitoring. Case 1 was a 15-year-old girl presenting with recurrent episodes of "convulsions" and loss of consciousness, who was referred to our hospital with a diagnosis of epilepsy showing "convulsions" and "complex partial seizures"...
June 6, 2018: Brain & Development
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