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Eyelid myoclonia

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https://www.readbyqxmd.com/read/27816898/epilepsy-in-ring-chromosome-20-syndrome
#1
Aglaia Vignoli, Francesca Bisulli, Francesca Darra, Massimo Mastrangelo, Carmen Barba, Lucio Giordano, Katherine Turner, Elena Zambrelli, Valentina Chiesa, Stefania Bova, Isabella Fiocchi, Angela Peron, Ilaria Naldi, Giuseppe Milito, Laura Licchetta, Paolo Tinuper, Renzo Guerrini, Bernardo Dalla Bernardina, Maria Paola Canevini
OBJECTIVE: Ring chromosome 20 syndrome is characterized by severe, drug resistant childhood onset epilepsy, often accompanied by cognitive impairment. We characterized the electro-clinical phenotype and the long-term course of epilepsy in a large series. METHODS: We reviewed the electro-clinical phenotype of 25 patients (aged 8-59 years), and assessed the relationship between epilepsy severity and clinical and/or genetic variables. We also searched for reports of patients diagnosed with r(20) syndrome in the literature, included those whose clinical information was sufficiently accurate, and compared their clinical features with the ones of our patients...
December 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27352968/loss-of-function-of-the-retinoid-related-nuclear-receptor-rorb-gene-and-epilepsy
#2
Gabrielle Rudolf, Gaetan Lesca, Mana M Mehrjouy, Audrey Labalme, Manal Salmi, Iben Bache, Nadine Bruneau, Manuela Pendziwiat, Joel Fluss, Julitta de Bellescize, Julia Scholly, Rikke S Møller, Dana Craiu, Niels Tommerup, Maria Paola Valenti-Hirsch, Caroline Schluth-Bolard, Frédérique Sloan-Béna, Katherine L Helbig, Sarah Weckhuysen, Patrick Edery, Safia Coulbaut, Mohamed Abbas, Ingrid E Scheffer, Sha Tang, Candace T Myers, Hannah Stamberger, Gemma L Carvill, Deepali N Shinde, Heather C Mefford, Elena Neagu, Robert Huether, Hsiao-Mei Lu, Alice Dica, Julie S Cohen, Catrinel Iliescu, Cristina Pomeran, James Rubenstein, Ingo Helbig, Damien Sanlaville, Edouard Hirsch, Pierre Szepetowski
Genetic generalized epilepsy (GGE), formerly known as idiopathic generalized epilepsy, is the most common form of epilepsy and is thought to have predominant genetic etiology. GGE are clinically characterized by absence, myoclonic, or generalized tonic-clonic seizures with electroencephalographic pattern of bilateral, synchronous, and symmetrical spike-and-wave discharges. Despite their strong heritability, the genetic basis of generalized epilepsies remains largely elusive. Nevertheless, recent advances in genetic technology have led to the identification of numerous genes and genomic defects in various types of epilepsies in the past few years...
June 29, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27170670/assessment-of-blink-reflex-in-genetic-generalized-epilepsy-patients-with-eyelid-myoclonia
#3
Güneş Altıokka-Uzun, Esme Ekizoğlu, Elif Kocasoy-Orhan, Nerses Bebek, Candan Gürses, Ayşen Gökyiğit, Ali Emre Öge, Betül Baykan
Eyelid myoclonia (EM) with or without absences are a rare type of generalized seizures associated with a variety of epilepsy syndromes with an unknown pathophysiology. The aim of this study was to investigate the possible contribution of the brainstem structures in this underrecognized special type of seizures. Sixteen consecutive patients with EM, diagnosed with genetic generalized epilepsy (GGE) according to International League Against Epilepsy 2010 criteria were included. Brainstem excitabilities were examined by blink reflex (BR) studies...
May 11, 2016: Clinical EEG and Neuroscience: Official Journal of the EEG and Clinical Neuroscience Society (ENCS)
https://www.readbyqxmd.com/read/26989088/genetic-and-neurodevelopmental-spectrum-of-syngap1-associated-intellectual-disability-and-epilepsy
#4
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
https://www.readbyqxmd.com/read/26644029/ictal-epileptic-headache-revealing-non-convulsive-status-epilepticus-in-a-case-of-eyelid-myoclonia-with-absences
#5
Martina Fanella, Alessandra Morano, Jinane Fattouch, Mariarita Albini, Sara Casciato, Mario Manfredi, Anna Teresa Giallonardo, Carlo Di Bonaventura
Epileptic seizures and headache attacks are two common neurologic phenomena characterized by paroxysmal alteration of brain functions followed by complete restauration of the baseline condition. Headache and epilepsy are related in numerous ways, and they often co-occur. Although the link between these two diseases is not completely clear, several clinical, physiopathological and therapeutic features overlap. Headache is reported in association with epileptic seizures as a pre-ictal, ictal or post-ictal phenomenon...
2015: Journal of Headache and Pain
https://www.readbyqxmd.com/read/26586031/paroxysmal-eyelid-movements-in-patients-with-visual-sensitive-reflex-seizures
#6
Mario Brinciotti, Maria Matricardi
AIM: Paroxysmal eyelid movements (PEM) are non-epileptic episodes characterized by eyelid closure, upturning of the eyes, and rapid eyelid flutter. The aim of this study was to report clinical and EEG data of patients with PEM and its relationship with visual sensitivity. METHODS: We studied 26 patients with epilepsy (12 males and 14 females; mean age: 14.0±6.9 years) who presented PEM. The epilepsy was idiopathic generalized (eight cases), idiopathic focal (six cases), symptomatic focal (five cases), and reflex epilepsy (seven cases)...
December 2015: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/26492104/preliminary-neurocognitive-outcomes-in-jeavons-syndrome
#7
Ashley S Fournier-Goodnight, Marsha Gabriel, M Scott Perry
Jeavons syndrome (JS, eyelid myoclonia with absences [EMA]) consists of a triad of symptoms including eyelid myoclonia that may be accompanied by absence seizures, eye closure-induced EEG paroxysms or seizures, and photosensitivity. The age of onset ranges between 2 and 14 years with symptoms peaking between 6 and 8 years of age. Though investigation of the clinical, EEG, and neurological features of JS has occurred, neurocognitive functioning has not been well-delineated despite suggestion that a subtype of the syndrome is characterized in part by cognitive impairment...
November 2015: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/26155465/focal-frontal-epileptiform-discharges-in-a-patient-with-eyelid-myoclonia-and-absence-seizures
#8
Satoru Takahashi, Shiho Yamamoto, Ryosuke Tanaka, Akie Okayama, Akiko Araki, Hiroshi Azuma
Eyelid myoclonia with absences is classified as a unique type of generalized seizure. Its pathogenesis is proposed to involve the functional abnormalities in cortical-subcortical networks. Here, we describe the case of a 7-year-old boy who had eyelid myoclonia with absences, along with focal motor seizures. Video-EEG monitoring demonstrated eyelid myoclonia associated with 4- to 5-Hz generalized polyspike-waves preceded by focal frontal discharges. Interictal EEG showed focal epileptiform discharges over the frontal regions...
2015: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/25819946/eyelid-myoclonia-seizures-in-adults-an-alternate-look-at-the-syndrome-paradox
#9
Pelin Nar Senol, F Irsel Tezer, Serap Saygi
OBJECTIVES: Eyelid myoclonia (EM), without or with absences (EMA), is induced by eye closure (ECL)-associated generalized paroxysms of polyspikes and waves. Although considered as an epileptic syndrome, it has been listed as a type of seizure in the recent epilepsy classifications, perhaps because of its clinical heterogeneity. In this study, we aimed to specifically study the clinical and electroencephalogram (EEG) features and the prognosis of long-term followed-up adult patients with EMs and to determine common points between EMAs, idiopathic generalized epilepsies (IGEs), and symptomatic epilepsies...
April 2015: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/25783594/chd2-variants-are-a-risk-factor-for-photosensitivity-in-epilepsy
#10
Elizabeth C Galizia, Candace T Myers, Costin Leu, Carolien G F de Kovel, Tatiana Afrikanova, Maria Lorena Cordero-Maldonado, Teresa G Martins, Maxime Jacmin, Suzanne Drury, V Krishna Chinthapalli, Hiltrud Muhle, Manuela Pendziwiat, Thomas Sander, Ann-Kathrin Ruppert, Rikke S Møller, Holger Thiele, Roland Krause, Julian Schubert, Anna-Elina Lehesjoki, Peter Nürnberg, Holger Lerche, Aarno Palotie, Antonietta Coppola, Salvatore Striano, Luigi Del Gaudio, Christopher Boustred, Amy L Schneider, Nicholas Lench, Bosanka Jocic-Jakubi, Athanasios Covanis, Giuseppe Capovilla, Pierangelo Veggiotti, Marta Piccioli, Pasquale Parisi, Laura Cantonetti, Lynette G Sadleir, Saul A Mullen, Samuel F Berkovic, Ulrich Stephani, Ingo Helbig, Alexander D Crawford, Camila V Esguerra, Dorothee G A Kasteleijn-Nolst Trenité, Bobby P C Koeleman, Heather C Mefford, Ingrid E Scheffer, Sanjay M Sisodiya
Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo CHD2 mutations, but is also seen in epileptic encephalopathies due to other gene mutations. We determined whether CHD2 variation underlies photosensitivity in common epilepsies, specific photosensitive epilepsies and individuals with photosensitivity without seizures...
May 2015: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/25705303/intellectual-disability-and-epilepsy-in-down-syndrome
#11
Diana Barca, Oana Tarta-Arsene, Alice Dica, Catrinel Iliescu, Magdalena Budisteanu, Cristina Motoescu, Niculina Butoianu, Dana Craiu
UNLABELLED: Down Syndrome (DS) is the most common genetic cause of mental retardation, with a reported frequency of epilepsy between 1.4-17% (1). There is a paucity of data in the literature regarding epilepsy in Down syndrome and its relation to intellectual disability. OBJECTIVES: The purpose of this article is to analyze the association of epilepsy in children with DS - frequency and type of seizures, treatment, outcome and to compare cognitive impairment of children with DS and epilepsy and DS without epilepsy from our cohort...
December 2014: Mædica
https://www.readbyqxmd.com/read/25672921/chd2-myoclonic-encephalopathy-is-frequently-associated-with-self-induced-seizures
#12
Rhys H Thomas, Lin Mei Zhang, Gemma L Carvill, John S Archer, Sinéad B Heavin, Simone A Mandelstam, Dana Craiu, Samuel F Berkovic, Deepak S Gill, Heather C Mefford, Ingrid E Scheffer
OBJECTIVE: To delineate the phenotype of early childhood epileptic encephalopathy due to de novo mutations of CHD2, which encodes the chromodomain helicase DNA binding protein 2. METHODS: We analyzed the medical history, MRI, and video-EEG recordings of 9 individuals with de novo CHD2 mutations and one with a de novo 15q26 deletion encompassing CHD2. RESULTS: Seizures began at a mean of 26 months (12-42) with myoclonic seizures in all 10 cases...
March 3, 2015: Neurology
https://www.readbyqxmd.com/read/25564313/blinking-and-eyelid-myoclonia-characteristics-and-correlations-of-eyelid-movements
#13
Priscila Oliveira da Conceição, Mirian Salvadori Bittar Guaranha, Carina Gonçalves Pedroso Uchida, Kelly Carvalho, Laura M F F Guilhoto, Gerardo M De Araújo-Filho, Henrique Carrete Júnior, Peter Wolf, Elza Márcia Targas Yacubian
PURPOSE: Eyelid myoclonia (EM) is considered a seizure type and has been described in several epileptic conditions. Previous studies reported that EM are precipitated only by slow eye closure, but little is known about the characteristics of blinking in patients with EM seizures and differences in precipitation of EM by different kinds of eye closure. We analyzed by video-EEG the characteristics of blinking and eye closure in these patients. METHOD: Twenty patients with EM had a video-EEG protocol with eyelid sensors...
January 2015: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/25130932/the-visual-system-in-eyelid-myoclonia-with-absences
#14
COMPARATIVE STUDY
Anna Elisabetta Vaudano, Andrea Ruggieri, Manuela Tondelli, Pietro Avanzini, Francesca Benuzzi, Giuliana Gessaroli, Gaetano Cantalupo, Massimo Mastrangelo, Aglaia Vignoli, Carlo Di Bonaventura, Maria Paola Canevini, Bernardo Dalla Bernardina, Paolo Frigio Nichelli, Stefano Meletti
OBJECTIVE: To investigate the functional and structural brain correlates of eyelid myoclonus and absence seizures triggered by eye closure (eye closure sensitivity [ECS]). METHODS: Fifteen patients with eyelid myoclonus with absences (EMA, Jeavons syndrome), 14 patients with idiopathic generalized epilepsies (IGE) without ECS, and 16 healthy controls (HC) underwent an electroencephalography (EEG)-correlated functional magnetic resonance imaging (fMRI) and voxel brain morphometry (VBM) protocol...
September 2014: Annals of Neurology
https://www.readbyqxmd.com/read/24997010/agenesis-of-the-corpus-callosum-and-generalized-epilepsy
#15
Faik Ilik, Ugur T Bilgilisoy
The corpus callosum is the main band of interhemispheric axonal fibers in the human brain. Corpus callosum agenesis has widely varying symptoms, mainly associated with epilepsy, cognitive failure, and different neuropsychiatric disorders. Our case of corpus callosum agenesis includes eyelid myoclonia with absences. In the literature, there is no reported case of this combination. We report this case because it is rare, and relevant for the understanding of interhemispheric communications, based on our electrophysiological findings...
July 2015: Clinical EEG and Neuroscience: Official Journal of the EEG and Clinical Neuroscience Society (ENCS)
https://www.readbyqxmd.com/read/24637828/-eye-movement-disorders-in-children
#16
M Iu Bobylova, M B Mironov, K Iu Mukhin, A S Petrukhin
The article includes review of literature on anatomy, physiology, symptoms of ocular movement and their disturbance in children. Differential diagnosis between early developmental disturbances of vision in the normal child and during the diseases of central nervous system is very hard. There is data on such pediatric neuro-ophthalmology complex disorders as nystagmus, paroxysmal tonic upgaze, opsoclonus, spasmus nutans, seizures (eyelid myoclonia, absences).
2014: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/24566229/mystery-case-eyelid-myoclonia-with-absences-in-an-adult-patient
#17
Yousef Hannawi, Shirish S Satpute, Atul Maheshwari
No abstract text is available yet for this article.
February 25, 2014: Neurology
https://www.readbyqxmd.com/read/24495864/jeavons-syndrome-in-china
#18
Xiao-Li Wang, Jun-Xiang Bao, Liang-Shi, Tie-Ma, Yan-Chun Deng, Gang Zhao, Bengwei Swa, Yong-Hong Liu
OBJECTIVES: Jeavons syndrome (JS) is one of the underreported epileptic syndromes and is characterized by eyelid myoclonia (EM), eye closure-induced seizures or electroencephalography (EEG) paroxysms, and photosensitivity. In the Western populations, it has been reported to be characterized by focal posterior, occipital predominant epileptiform discharges (OPEDs) or frontal predominant epileptiform discharges (FPEDs) followed by generalized EDs in both interictal and ictal EEG recordings...
March 2014: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/23885176/current-and-emerging-treatments-for-absence-seizures-in-young-patients
#19
Pascal Vrielynck
In this report, we review the pharmacological and non-pharmacological treatments of the different absence seizure types as recently recognized by the International League Against Epilepsy: typical absences, atypical absences, myoclonic absences, and eyelid myoclonia with absences. Overall, valproate and ethosuximide remain the principal anti-absence drugs. Typical absence seizures exhibit a specific electroclinical semiology, pathophysiology, and pharmacological response profile. A large-scale comparative study has recently confirmed the key role of ethosuximide in the treatment of childhood absence epilepsy, more than 50 years after its introduction...
2013: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/23774309/video-eeg-findings-in-a-kcnq2-epileptic-encephalopathy-a-case-report-and-revision-of-literature-data
#20
REVIEW
Domenico Serino, Nicola Specchio, Giuseppe Pontrelli, Federico Vigevano, Lucia Fusco
We describe the EEG findings of an infant with early-onset epileptic encephalopathy with mutation of the KCNQ2 gene and a family history of neonatal seizures. The infant presented with multifocal drug-resistant seizures with onset during the third day of life. Family history was positive for early-onset neonatal seizures. Metabolic screening and neuroimaging were negative. Direct sequencing of KCQN2 from both the mother and child revealed a heterozygous cytosine-to-guanine mutation (Dedek et al., 2003). Interictal EEG showed a very discontinuous pattern which evolved towards a defined burst-suppression pattern during sleep and a multifocal, random, attenuation pattern during wakefulness...
June 2013: Epileptic Disorders: International Epilepsy Journal with Videotape
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