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Juvenile Myoclonic Epilepsy

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CACNA1H variants are not a cause of monogenic epilepsy.

Jeffrey D Calhoun, Alexandra M Huffman, Irena Bellinski, Lisa Kinsley, Elizabeth Bachman, Elizabeth Gerard, Jennifer A Kearney, Gemma L Carvill,

CACNA1H genetic variants were originally reported in a childhood absence epilepsy cohort. Subsequently, genetic testing for CACNA1H became available and is currently offered by commercial laboratories. However, the current status of CACNA1H as a monogenic cause of epilepsy is controversial, highlighted by ClinGen's recent re-classification of CACNA1H as disputed. We ... Read more >>

Hum. Mutat. (Human mutation)
[2020, :]

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Cognitive functioning in new-onset juvenile myoclonic epilepsy.

Maria Raatikainen, Reetta Kälviäinen, Leena Jutila, Marja Äikiä,

PURPOSE:Juvenile myoclonic epilepsy (JME) is a common genetic generalized epilepsy syndrome. Adult patients with JME have shown a neuropsychological profile suggestive of subtle frontal dysfunction, but studies of cognitive functioning in the early phases of JME are rare. We analyzed the cognitive performance data of 18 patients who had undergone ... Read more >>

Epilepsy Behav (Epilepsy & behavior : E&B)
[2020, 106:107015]

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Functional Alterations in Ciliogenesis-Associated Kinase 1 (CILK1) that Result from Mutations Linked to Juvenile Myoclonic Epilepsy.

Eric J Wang, Casey D Gailey, David L Brautigan, Zheng Fu,

Ciliopathies are a group of human genetic disorders associated with mutations that give rise to the dysfunction of primary cilia. Ciliogenesis-associated kinase 1 (CILK1), formerly known as intestinal cell kinase (ICK), is a conserved serine and threonine kinase that restricts primary (non-motile) cilia formation and length. Mutations in CILK1 are ... Read more >>

Cells (Cells)
[2020, 9(3):]

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[Juvenile myoclonic epilepsy: long-term prognosis and antiepileptic drug withdrawal].

A Viloria Alebesque, E Bellosta Diago, S Santos Lasaosa, J A Mauri Llerda,

BACKGROUND:Juvenile myoclonic epilepsy (JME) is a classic epileptic syndrome that lacks consensus on the possibility of suspending treatment with antiepileptic drugs (AD). METHOD:Retrospective observational study of a series of patients diagnosed with JME with 20 years or more of evolution, focusing on those with withdrawal from AD. RESULTS:The study involved ... Read more >>

An Sist Sanit Navar (Anales del sistema sanitario de Navarra)
[2020, 0(0):74332]

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Dysfunctional personality beliefs and executive performance in patients with juvenile myoclonic epilepsy.

Mariângela Taura, André P Gama, Artur V M Sousa, Maria Helena S Noffs, Neide B Alonso, Elza M Yacubian, Laura M Guilhoto,

BACKGROUND:This article intends to verify the association of dysfunctional beliefs of personality disorders with the executive performance in people with juvenile myoclonic epilepsy (JME). METHODS:Fifty-two patients (35 women, 67.3%) with JME aged 18-50 yrs. (32.3 ± 9.7) were evaluated between May 2017 and April 2018 and compared with controls. All subjects were submitted ... Read more >>

Epilepsy Behav (Epilepsy & behavior : E&B)
[2020, 105:106958]

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Juvenile myoclonic epilepsy mimic associated with CHD2 gene mutation.

Neeraj Singh, Anthony Ritaccio,

This paper reports the electroclinical manifestations of an epilepsy syndrome associated with a chromodomain helicase DNA-binding protein 2 (CHD2) gene mutation with clinical semiology and electroencephalographic (EEG) features consistent with juvenile myoclonic epilepsy (JME). Myoclonic and myoclonic-tonic-clonic seizures, as well as generalized 4- to 5-Hz high-amplitude spike-wave and polyspike-wave discharges, ... Read more >>

Epilepsy Behav Rep (Epilepsy & behavior reports)
[2020, 13:100355]

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Cognitive Function in Genetic Generalized Epilepsies: Insights From Neuropsychology and Neuroimaging.

Corey Ratcliffe, Britta Wandschneider, Sallie Baxendale, Pamela Thompson, Matthias J Koepp, Lorenzo Caciagli,

Genetic generalized epilepsies (GGE), previously called idiopathic generalized epilepsies, constitute about 20% of all epilepsies, and include childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalized tonic-clonic seizures alone (CAE, JAE, JME, and GGE-GTCS, respectively). GGE are characterized by high heritability, likely underlain by polygenetic mechanisms, ... Read more >>

Front Neurol (Frontiers in Neurology)
[2020, 11:144]

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Genetic variations associated with pharmacoresistant epilepsy.

Noemí Cárdenas-Rodríguez, Liliana Carmona-Aparicio, Diana L. Pérez-Lozano, Daniel Ortega-Cuellar, Saúl Gómez-Manzo, Iván Ignacio-Mejía,

Epilepsy is a common, serious neurological disorder worldwide. Although this disease can be successfully treated in most cases, not all patients respond favorably to medical treatments, which can lead to pharmacoresistant epilepsy. Drug-resistant epilepsy can be caused by a number of mechanisms that may involve environmental and genetic factors, as ... Read more >>

Mol Med Rep (Molecular Medicine Reports)
[2020, 21(4):1685-1701]

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From Standard of Care to Personalized (Art of) Medicine: Two Novel GABA-A Receptor β3 Subunit Mutations Associated With Epilepsy Syndromes.

Libor Velisek,

[Box: see text]. ... Read more >>

Epilepsy Curr (Epilepsy currents)
[2020, 20(1):45-47]

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Subcortical gray matter changes in pediatric patients with new-onset juvenile myoclonic epilepsy.

Zeynep Öztürk, Altan Güneş, Zeynep Selen Karalok,

OBJECTIVE:The objective of the study was to identify the relationship between subcortical gray matter (GM) volumes and juvenile myoclonic epilepsy (JME). METHODS:We analyzed the brain magnetic resonance imaging (MRI) scans that were performed during the time of the diagnosis of epilepsy by using voxel-based morphometry (VBM) method. The volumetric three-dimensional ... Read more >>

Epilepsy Behav (Epilepsy & behavior : E&B)
[2020, 104(Pt A):106860]

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Concern of Photosensitive Seizures Evoked by 3D Video Displays or Virtual Reality Headsets in Children: Current Perspective.

Lawrence Tychsen, Liu Lin Thio,

This review assesses the risk of a photic-induced seizure in a child during viewing of 3D (binocular 3 dimensional, stereoscopic) movies or games, either on standard video displays or when wearing a virtual reality (VR) headset. Studies published by pediatric epilepsy experts emphasize the low risk of 3D viewing even ... Read more >>

Eye Brain (Eye and brain)
[2020, 12:45-48]

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Pharmacological Management of the Genetic Generalised Epilepsies in Adolescents and Adults.

Linda J Stephen, Martin J Brodie,

Common genetic generalised epilepsy syndromes encountered by clinicians include childhood and juvenile absence epilepsies, juvenile myoclonic epilepsy and generalised tonic-clonic seizures on awakening. Treatment of these syndromes involves largely the use of broad-spectrum antiseizure drugs. Those effective for the generalised epilepsies include sodium valproate, phenobarbital, ethosuximide, clobazam, clonazepam, lamotrigine, levetiracetam, ... Read more >>

CNS Drugs (CNS drugs)
[2020, 34(2):147-161]

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[Clinical and psychosocial factors associated with seizure control in patients with juvenile myoclonic epilepsy].

P Sánchez-Zapata, J F Zapata-Berruecos,

AIM:To identify the clinical and psychosocial factors of a Colombian cohort of patients with juvenile myoclonic epilepsy and its relation to crisis control. PATIENTS AND METHODS:Retrospective cohort study of patients over 14 years of age with a diagnosis of juvenile myoclonic epilepsy, with 12 months of follow-up in an epilepsy ... Read more >>

Rev Neurol (Revista de neurologia)
[2019, 69(11):453-460]

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Epidemiology and outcome of idiopathic generalized epilepsy in adults.

J Gesche, J Christensen, H Hjalgrim, G Rubboli, C P Beier,

BACKGROUND AND PURPOSE:Drug-resistant idiopathic generalized epilepsy (IGE) remains challenging despite a favourable overall prognosis of IGE, and little is known about basic epidemiology and long-term outcome of drug-resistant IGE. The aim of the study was to describe the incidence, prevalence and outcome of IGE in an unbiased, population-based cohort. METHODS:In ... Read more >>

Eur. J. Neurol. (European journal of neurology)
[2020, 27(4):676-684]

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Earlier Is Not Always Better: Outcomes When Epilepsy Occurs in Early Life Versus Adolescence.

Katherine Nickels,

[Box: see text]. ... Read more >>

Epilepsy Curr (Epilepsy currents)
[2020, 20(1):27-29]

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Thalamic nuclei volumes and network in juvenile myoclonic epilepsy.

Ho-Joon Lee, Sol A Seo, Byung In Lee, Sung Eun Kim, Kang Min Park,

OBJECTIVE:The aim of this study was to investigate the alterations of thalamic nuclei volumes and intrinsic thalamic networks in patients with juvenile myoclonic epilepsy (JME) compared to healthy controls. METHODS:We enrolled 50 patients with JME and 42 healthy controls. We obtained structural volumes of the individual thalamic nuclei based on ... Read more >>

Acta Neurol. Scand. (Acta neurologica Scandinavica)
[2020, 141(4):271-278]

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Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy.

Lynette G Sadleir, Guillem de Valles-Ibáñez, Chontelle King, Matthew Coleman, Stuart Mossman, Sarah Paterson, John Nguyen, Samuel F Berkovic, Saul Mullen, Melanie Bahlo, Michael S Hildebrand, Heather C Mefford, Ingrid E Scheffer,

Variants in RORB have been reported in eight individuals with epilepsy, with phenotypes ranging from eyelid myoclonia with absence epilepsy to developmental and epileptic encephalopathies. We identified novel RORB variants in 11 affected individuals from four families. One was from whole genome sequencing and three were from RORB screening of ... Read more >>

Epilepsia (Epilepsia)
[2020, :]

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Praxis induction and its relationship with cognition in genetic generalized epilepsy.

Belén Abarrategui, Beatriz Parejo-Carbonell, Maria Eugenia García García, Antonio Gil-Nagel, Irene García-Morales,

INTRODUCTION:Praxis induction (PI) is a reflex trait defined as the precipitation of epileptic discharges (ED) or seizures by cognition-guided tasks that often involve visuomotor coordination and decision-making. This is a characteristic of genetic generalized epilepsy (GGE), and especially of juvenile myoclonic epilepsy (JME). Additionally, several studies have described dysexecutive traits ... Read more >>

Epilepsy Behav (Epilepsy & behavior : E&B)
[2020, 102:106638]

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Juvenile Onset Niemann-Pick Type C Disease with Refractory Seizures.

Banshi Lal Kumawat, Pankaj Kumar Saini, Chandra Mohan Sharma, Manisha Sharma, L S Manu,

Ann Indian Acad Neurol (Annals of Indian Academy of Neurology)
[2019, 22(4):539-540]

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The Endocannabinoid System in Pediatric Inflammatory and Immune Diseases.

Maura Argenziano, Chiara Tortora, Giulia Bellini, Alessandra Di Paola, Francesca Punzo, Francesca Rossi,

Endocannabinoid system consists of cannabinoid type 1 (CB1) and cannabinoid type 2 (CB2) receptors, their endogenous ligands, and the enzymes responsible for their synthesis and degradation. CB2, to a great extent, and CB1, to a lesser extent, are involved in regulating the immune response. They also regulate the inflammatory processes ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2019, 20(23):]

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Social impairment and stigma in genetic generalized epilepsies.

Denis Gabriel, Magda Ventura, Raquel Samões, Joel Freitas, João Lopes, João Ramalheira, António Martins da Silva, João Chaves,

INTRODUCTION:Patients with epilepsy have poor social outcome. Multifactorial factors are usually involved, but among them, stigma features may have an important role. Genetic generalized epilepsies (GGEs) were previously considered "benign" syndromes. The aim of our study was to assess social impairment and stigma in GGE and to evaluate differences between ... Read more >>

Epilepsy Behav (Epilepsy & behavior : E&B)
[2020, 104(Pt A):106886]

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Whole exome sequencing identifies a novel SCN1A mutation in genetic (idiopathic) generalized epilepsy and juvenile myoclonic epilepsy subtypes.

Chung-Kin Chan, Joyce Siew-Yong Low, Kheng-Seang Lim, Siew-Kee Low, Chong-Tin Tan, Ching-Ching Ng,

INTRODUCTION:Genetic (idiopathic) generalized epilepsy (GGE) is a common form of epilepsy characterized by unknown aetiology and a presence of genetic component in its predisposition. METHODS:To understand the genetic factor in a family with GGE, we performed whole exome sequencing (WES) on a trio of a juvenile myoclonic epilepsy/febrile seizure (JME/FS) ... Read more >>

Neurol. Sci. (Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology)
[2020, 41(3):591-598]

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Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes.

Yi-Wu Shi, Qi Zhang, Kefu Cai, Sarah Poliquin, Wangzhen Shen, Nathan Winters, Yong-Hong Yi, Jie Wang, Ningning Hu, Robert L Macdonald, Wei-Ping Liao, Jing-Qiong Kang,

GABRB3 is highly expressed early in the developing brain, and its encoded β3 subunit is critical for GABAA receptor assembly and trafficking as well as stem cell differentiation in embryonic brain. To date, over 400 mutations or variants have been identified in GABRB3. Mutations in GABRB3 have been increasingly recognized ... Read more >>

Brain (Brain : a journal of neurology)
[2019, 142(10):3028-3044]

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Dissociation between decision making under ambiguity and risk in patients with juvenile myoclonic epilepsy.

Maria L Paiva, Patricia Rzezak, Bernardo Santos, Ellen M Lima, Sylvie P Moschetta, Silvia Vincentiis, Rudá Alessi, Melanie Mendoza, Kette D Valente,

INTRODUCTION:Decision making (DM) is one aspect of impulsivity that can be defined by the ability to decide between two or more options in a given situation. To date, there are at least two types of DM that differ in the level of uncertainty, and how much information about consequences is ... Read more >>

Epilepsy Behav (Epilepsy & behavior : E&B)
[2019, 101(Pt A):106548]

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Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force.

Sterre van der Veen, Rodi Zutt, Christine Klein, Connie Marras, Samuel F Berkovic, John N Caviness, Hiroshi Shibasaki, Tom J de Koning, Marina A J Tijssen,

Genetically determined myoclonus disorders are a result of a large number of genes. They have wide clinical variation and no systematic nomenclature. With next-generation sequencing, genetic diagnostics require stringent criteria to associate genes and phenotype. To improve (future) classification and recognition of genetically determined movement disorders, the Movement Disorder Society ... Read more >>

Mov. Disord. (Movement disorders : official journal of the Movement Disorder Society)
[2019, 34(11):1602-1613]

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