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Myoclonic epilepsy

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https://www.readbyqxmd.com/read/29127138/%C3%AE-catenin-ctnnd2-missense-mutation-in-familial-cortical-myoclonic-tremor-and-epilepsy
#1
Anne-Fleur van Rootselaar, Alexander J Groffen, Boukje de Vries, Petra M C Callenbach, Gijs W E Santen, Stephany Koelewijn, Lisanne S Vijfhuizen, Arthur Buijink, Marina A J Tijssen, Arn M J M van den Maagdenberg
OBJECTIVE: To identify the causative gene in a large Dutch family with familial cortical myoclonic tremor and epilepsy (FCMTE). METHODS: We performed exome sequencing for 3 patients of our FCMTE family. Next, we performed knock-down (shRNA) and rescue experiments by overexpressing wild-type and mutant human δ-catenin (CTNND2) proteins in cortical mouse neurons and compared the results with morphologic abnormalities in the postmortem FCMTE brain. RESULTS: We identified a missense mutation, p...
November 10, 2017: Neurology
https://www.readbyqxmd.com/read/29126048/lennox-gastaut-syndrome-in-adulthood-long-term-clinical-follow-up-of-38-patients-and-analysis-of-their-recorded-seizures
#2
Aglaia Vignoli, Gaia Oggioni, Giovanni De Maria, Angela Peron, Miriam Nella Savini, Elena Zambrelli, Valentina Chiesa, Francesca La Briola, Katherine Turner, Maria Paola Canevini
Lennox-Gastaut syndrome (LGS) is a severe epileptic encephalopathy with childhood onset that usually continues through adolescence and into adulthood. In the long term, patients with this condition still have intractable seizures, intellectual disability, behavioral problems, and physical comorbidities. The aim of this study was to describe the clinical and EEG characteristics of a group of adults with Lennox-Gastaut syndrome. We identified 38 (22 females, 16 males) patients with LGS older than age 18years at their last evaluation, with mean age of 43...
November 7, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29089769/identification-of-a-novel-cacna1a-mutation-in-a-chinese-family-with-autosomal-recessive-progressive-myoclonic-epilepsy
#3
Yudan Lv, Zan Wang, Chang Liu, Li Cui
BACKGROUND: Progressive myoclonic epilepsy (PME) is a heterogeneous neurodegenerative disorder, which is commonly manifested with refractory seizures and neurologic deterioration. The prognosis of PME is poor, so early diagnosis of PME is critical. The aim of our study is to identify the novel pathogenic gene in a Chinese family with PME, which may be helpful in future. SUBJECTS AND METHODS: A three-generation consanguineous Chinese Han family with PME was recruited...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29064616/gain-of-function-hcn2-variants-in-genetic-epilepsy
#4
Melody Li, Snezana Maljevic, A Marie Phillips, Slave Petrovski, Michael Hildebrand, Rosemary Burgess, Therese Mount, Federico Zara, Pasquale Striano, Julian Schubert, Holger Thiele, Peter Nürnberg, Michael Wong, Judith L Weisenberg, Liu Lin Thio, Holger Lerche, Ingrid E Scheffer, Samuel F Berkovic, Steven Petrou, Christopher A Reid
Genetic generalized epilepsy (GGE) is a common epilepsy syndrome that encompasses seizure disorders characterized by spike-and-wave discharges (SWDs). Pacemaker hyperpolarization-activated cyclic nucleotide-gated channels (HCN) are considered integral to SWD genesis, making them an ideal gene candidate for GGE. We identified HCN2 missense variants from a large cohort of 585 GGE patients, recruited by the Epilepsy Phenome-Genome Project (EPGP), and performed functional analysis using two-electrode voltage clamp recordings from Xenopus oocytes...
October 24, 2017: Human Mutation
https://www.readbyqxmd.com/read/29054413/a-2-bp-deletion-in-the-mitochondrial-atp-6-gene-responsible-for-the%C3%A2-narp-neuropathy-ataxia-and-retinitis-pigmentosa-syndrome
#5
Patrick Mordel, Stéphane Schaeffer, Quentin Dupas, Marie-Alice Laville, Marion Gérard, Françoise Chapon, S Allouche
Mitochondrial (mt) DNA-associated NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) syndrome is due to mutation in the MT-ATP6 gene. We report the case of a 18-year-old man who presented with deafness, a myoclonic epilepsy, muscle weakness since the age of 10 and further developed a retinitis pigmentosa and ataxia. The whole mtDNA analysis by next-generation sequencing revealed the presence of the 2 bp microdeletion m.9127-9128 del AT in the ATP6 gene at 82% heteroplasmy in muscle and to a lower load in blood (10-20%) and fibroblasts (50%)...
December 9, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29047147/case-control-pharmacogenetic-study-of-hcn1-hcn2-variants-and-genetic-generalized-epilepsies
#6
Shu-Zhi Wu, Hua Ye, Xiao-Guo Yang, Zhi-Li Lu, Qiang Qu, Jian Qu
Epilepsy is a common complex neurological disorder, and some forms are resistant to drug treatment. The HCN1/HCN2 genes encode hyperpolarization-activated cyclic nucleotide-gated channels, which play important roles in the electrophysiology of neurons. We investigated the association between HCN1/HCN2 variants and drug resistance or the risk of genetic generalized epilepsies (GGEs). We used matrix-assisted laser desorption/ionization time-of-flight mass spectrometry to assess nine variants of HCN1/HCN2 in 284 healthy participants and 483 GGEs (279 drug-responsive, 204 drug-resistant)...
October 19, 2017: Clinical and Experimental Pharmacology & Physiology
https://www.readbyqxmd.com/read/29031745/sleep-architecture-in-patients-with-juvenile-myoclonic-epilepsy
#7
Jaidaa F Mekky, Sonia M Elbhrawy, Mohamed F Boraey, Horeya M Omar
AIM: The aim is to analyze the sleep architecture using polysomnography (PSG) in patients with Juvenile Myoclonic Epilepsy (JME): (newly diagnosed and those on valproate drug) attending epilepsy clinic at Alexandria University Hospitals. METHODS: This study involved 20 patients with JME on valproate (age: 22.40 ± 5.80 years; M:F = 6:14), 20 newly diagnosed patients (age: 18.55 ± 6.0 years; M:F = 6:14), and 20 matched healthy controls (age: 22.10 ± 5...
October 2017: Sleep Medicine
https://www.readbyqxmd.com/read/29018767/optical-coherence-tomography-features-in-a-case-of-type-i-sialidosis
#8
I-Hua Wang, Ting-Yu Lin, Shu-Ting Kao
A 15-year-old boy presented with progressive myoclonic epilepsy and unbalance gaits for 4 years. Slit lamp examination showed a punctate cataract and funduscopic examination revealed bilateral macular cherry-red spots. Macular scan of spectral domain optical coherence tomography (SD-OCT) showed hyperreflectivity of the inner retinal layer and apparent hyperreflectivity of the photoreceptor layers in the foveal region. The clinical presentations were consistent with a Type I sialidosis which led to genetic analysis and revealed NEU1 mutation in this patient...
April 2017: Taiwan Journal of Ophthalmology
https://www.readbyqxmd.com/read/28951233/identification-of-two-mutations-in-cis-in-the-scn1a-gene-in-a-family-showing-genetic-epilepsy-with-febrile-seizures-plus-gefs-and-idiopathic-generalized-epilepsy-ige
#9
N Binini, G Sancini, C Villa, R Dal Magro, V Sansoni, R Rusconi, M Mantegazza, D Grioni, F Talpo, M Toselli, R Combi
Mutations in the SCN1A gene causing either loss or gain of function have been frequently found in patients affected by genetic epilepsy with febrile seizures plus (GEFS+) or Dravet syndrome (also named severe myoclonic epilepsy in infancy SMEI). By mutation screening of the SCN1A gene, we identified for the first time a case of two missense mutations in cis (p.[Arg1525Gln;Thr297Ile]) in all affected individuals of an Italian family showing GEFS+ and idiopathic generalized epilepsy (IGE). The p.Arg1525Gln mutation was not previously reported yet and was predicted to be pathological by prediction tools, whereas the p...
December 15, 2017: Brain Research
https://www.readbyqxmd.com/read/28927715/microstructural-white-matter-changes-and-their-relation-to-neuropsychological-deficits-in-patients-with-juvenile-myoclonic-epilepsy
#10
Susanne Knake, Christine Roth, Marcus Belke, Jens Sonntag, Tobias Kniess, Soeren Krach, Andreas Jansen, Jens Sommer, Frieder M Paulus, Barbara Carl, Felix Rosenow, Anke M Hermsen, Katja Menzler
OBJECTIVE: Juvenile myoclonic epilepsy (JME) is the most common idiopathic generalized epilepsy syndrome. Neuropsychological, electrophysiological, and neuroimaging studies have led to the hypothesis that JME is related to dysfunction of frontal brain regions and mainly frontal thalamocortical networks. METHODS: We investigated possible microstructural white matter abnormalities of 20 patients with JME as compared with 20 healthy control subjects using diffusion tensor imaging (DTI)...
September 15, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28927557/cacna1a-related-early-onset-encephalopathy-with-myoclonic-epilepsy-a-case-report
#11
Takuya Hayashida, Yoshiaki Saito, Atsushi Ishii, Hiroyuki Yamada, Ayako Itakura, Toshinori Minato, Tetsuhiro Fukuyama, Yoshihiro Maegaki, Shinichi Hirose
We report a one-year-old boy with early-onset myoclonic epilepsy, developmental arrest, and hyperekplexia during early infancy. He presented with refractory myoclonic/tonic seizures since birth. Electroencephalography revealed multifocal spikes, and rhythmic activities that occurred simultaneous with aggravation of myoclonus accompanied by tonic upper limb elevation. Brain magnetic resonance imaging revealed progressive cerebral atrophy with periventricular signal change and thin corpus callosum at one year of age...
September 16, 2017: Brain & Development
https://www.readbyqxmd.com/read/28926747/ictal-source-imaging-and-electroclinical-correlation-in-self-limited-epilepsy-with-centrotemporal-spikes
#12
Jørgen Alving, Martin Fabricius, Ivana Rosenzweig, Sándor Beniczky
PURPOSE: To elucidate the localization of ictal EEG activity, and correlate it to semiological features in self-limited epilepsy with centrotemporal spikes (formerly called "benign epilepsy with centrotemporal spikes"). METHODS: We have performed ictal electric source imaging, and we analysed electroclinical correlations in three patients with self-limited epilepsy with centrotemporal spikes. RESULTS: The source of the evolving rhythmic ictal activity (9...
September 14, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28904460/juvenile-myoclonic-epilepsy-with-frontal-executive-dysfunction-is-associated-with-reduced-gray-matter-volume-by-voxel-based-morphometry
#13
Sreeja H Pillai, Sheelakumari Raghavan, Mrudula Mathew, Geetha M Gopalan, Chandrasekharan Kesavadas, Sankara Sarma, Sanjeev V Thomas
OBJECTIVE: Frontal executive dysfunction (FED) and abnormalities in volumetric magnetic resonance imaging (MRI) have been described in juvenile myoclonic epilepsy (JME). We aimed to compare JME patients with and without FED by group analysis of voxel-based morphometric (VBM) estimates of brain volume in MRI. SUBJECTS AND METHODS: We studied frontal executive functions in patients with JME and analyzed the possible association of FED with their demographic, clinical, and electrographic characteristics...
July 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28902172/behavioral-and-neurochemical-consequences-of-pentylenetetrazol-induced-kindling-in-young-and-middle-aged-rats
#14
Alexandre Ademar Hoeller, Cristiane Ribeiro de Carvalho, Pedro Leite Costa Franco, Douglas Affonso Formolo, Alexandre Kracker Imthon, Henrique Rodighero Dos Santos, Ingrid Eidt, Gabriel Roman Souza, Leandra Celso Constantino, Camila Leite Ferreira, Rui Daniel Prediger, Rodrigo Bainy Leal, Roger Walz
(1) Objectives: Epilepsy disorder is likely to increase with aging, leading to an increased incidence of comorbidities and mortality. In spite of that, there is a lack of information regarding this issue and little knowledge of cognitive and emotional responses in aging subjects following epileptogenesis. We investigated whether and how aging distress epilepsy-related behavioral and biochemical outcomes are associated with cognition and emotion. (2) Methods: Young and middle-aged Wistar rats (3 or 12 months old) were treated with pentylenetetrazol (PTZ, 35 mg/kg) and injected on alternated days for 20 (young rats) and 32 days (middle-aged rats)...
September 13, 2017: Pharmaceuticals
https://www.readbyqxmd.com/read/28899008/phenotypic-analysis-of-303-multiplex-families-with-common-epilepsies
#15
MULTICENTER STUDY
(no author information available yet)
Gene identification in epilepsy has mainly been limited to large families segregating genes of major effect and de novo mutations in epileptic encephalopathies. Many families that present with common non-acquired focal epilepsies and genetic generalized epilepsies remain unexplained. We assembled a cohort of 'genetically enriched' common epilepsies by collecting and phenotyping families containing multiple individuals with unprovoked seizures. We aimed to determine if specific clinical epilepsy features aggregate within families, and whether this segregation of phenotypes may constitute distinct 'familial syndromes' that could inform genomic analyses...
August 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28830309/aberrant-thalamocortical-connectivity-in-juvenile-myoclonic-epilepsy
#16
S Jiang, C Luo, J Gong, R Peng, S Ma, S Tan, G Ye, L Dong, D Yao
The purpose of this study was to investigate the functional connectivity (FC) of thalamic subdivisions in patients with juvenile myoclonic epilepsy (JME). Resting state functional magnetic resonance imaging (fMRI) and diffusion tensor imaging (DTI) data were acquired from 22 JME and 25 healthy controls. We first divided the thalamus into eight subdivisions by performing independent component analysis on tracking fibers and clustering thalamus-related FC maps. We then analyzed abnormal FC in each subdivision in JME compared with healthy controls, and we investigated their associations with clinical features...
June 13, 2017: International Journal of Neural Systems
https://www.readbyqxmd.com/read/28829985/follow-up-study-of-idiopathic-generalized-epilepsy-with-associated-absence-seizure-and-myoclonic-epilepsy-of-infancy
#17
Vincenzo Belcastro, Lucio Giordano, Dario Pruna, Cinzia Peruzzi, Susanna Casellato, Salvatore Barca, Giorgia Carlone, Pasquale Striano, Alberto Verrotti
We evaluated the long-term prognosis of patients featuring the association of absences and myoclonic epilepsy of infancy. Our cohort consisted of 10 male subjects with mean age at seizure onset of 29 months. Follow-up data included seizure outcome and EEG findings. All individuals received antiepileptic drugs (AEDs) as monotherapy (6 patients) or polytherapy (4 patients) for a mean period of 24 months. Over a 30-60 month evaluation period (mean: 43 months), all patients were seizure-free. Follow-up data after withdrawal of antiepileptic therapy were obtained for a mean period of 22 months...
August 14, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28822307/efficacy-of-a-third-or-later-antiepileptic-drug-regimen-according-to-epilepsy-syndrome-among-adult-patients
#18
Go Ito, Akihisa Okumura, Kousuke Kanemoto
OBJECTIVE: To evaluate the efficacy of third or later antiepileptic drug (AED) regimens in adult patients with epilepsy according to epilepsy syndrome. METHODS: The time courses of AEDs and their efficacy were evaluated in 449 adults with temporal lobe epilepsy (TLE, n=153), juvenile myoclonic epilepsy (JME, n=33), or extratemporal focal epilepsy (FE, n=263) based mainly on clinical symptoms and EEG findings. Any change in AEDs after their initiation demarcated the end of one regimen, whereas changes in dose did not...
October 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28805769/-psychiatry-of-the-future-an-overview-of-foreign-scientists-opinions-of-the-position-of-psychiatry-in-the-modern-world
#19
E D Belousova, N N Zavadenko, A A Kholin, A A Sharkov
This review presents the recently published revised classifications of epilepsies and seizure types developed by the International League Against Epilepsy (ILAE). The Classification of Epilepsies includes several diagnostic levels (steps): 1) from seizure type to epilepsy type (generalized/focal/combined generalized and focal/unknown), 2) diagnosis of epilepsy syndrome 3) etiology (genetic/ structural/ infectious/ metabolic/ immune/unknown). A clinician can use any level of the classification. Operational classification of seizure types is replaced by the previous classification that was grounded on the anatomical basis...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28802899/a-species-dependent-response-to-the-pro-epileptic-drug-pentylentetrazole-in-birds
#20
Faiq Amin, Asim H Dar, Khan Osama, Faezah Khan, Rida Mitha, Arsal Tharwani, Ghulam Haider, Prem Chand, Fazal M Arain
Epilepsy is common disorder that affects over 50 million people worldwide. Birds remain a promising yet largely under-explored model of epilepsy. This study reports the comparison of the response of two species of birds, Australian Parrots (APs) and Sparrows (SPs), to a pro-epileptic drug, Pentylenetetrazole (PTZ). PTZ injections caused myoclonic jerks (MCJs) and tonic clonic seizures (TCSs) in both species. The frequency of MCJs in APs was greater at the dose of 75mg/kg compared to both 50mg/kg and 25mg/kg while it was not significantly different in SPs...
August 9, 2017: Brain Research Bulletin
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