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Myoclonic Epilepsy Beginning in Infancy or Early Childhood

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Functional Genomics of Epilepsy and Associated Neurodevelopmental Disorders Using Simple Animal Models: From Genes, Molecules to Brain Networks.

Richard Rosch, Dominic R W Burrows, Laura B Jones, Colin H Peters, Peter Ruben, Éric Samarut,

The genetic diagnosis of patients with seizure disorders has been improved significantly by the development of affordable next-generation sequencing technologies. Indeed, in the last 20 years, dozens of causative genes and thousands of associated variants have been described and, for many patients, are now considered responsible for their disease. However, ... Read more >>

Front Cell Neurosci (Frontiers in cellular neuroscience)
[2019, 13:556]

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Recent advances in epilepsy genomics and genetic testing.

Malavika Hebbar, Heather C Mefford,

Developmental and epileptic encephalopathies (DEEs) are a group of severe, early onset epilepsies characterized by refractory seizures, developmental delay or regression associated with ongoing epileptic activity, and generally poor prognosis. DEE is genetically and phenotypically heterogeneous, and there is a plethora of genetic testing options to investigate the rapidly growing ... Read more >>

F1000Res (F1000Research)
[2020, 9:]

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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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Predicting the impact of sodium channel mutations in human brain disease.

Jeffrey L Noebels,

Genetic alteration of the sodium channel provides a remarkable opportunity to understand how epilepsy and its comorbidities arise from a molecular disease of excitable membranes, and a chance to create a better future for children with epileptic encephalopathy. In a single cell, the channel reliably acts as a voltage-sensitive switch, ... Read more >>

Epilepsia (Epilepsia)
[2019, 60 Suppl 3:S8-S16]

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Sexually Divergent Mortality and Partial Phenotypic Rescue After Gene Therapy in a Mouse Model of Dravet Syndrome.

Yosuke Niibori, Shiron J Lee, Berge A Minassian, David R Hampson,

Dravet syndrome (DS) is a neurodevelopmental genetic disorder caused by mutations in the SCN1A gene encoding the α subunit of the NaV1.1 voltage-gated sodium channel that controls neuronal action potential firing. The high density of this mutated channel in GABAergic interneurons results in impaired inhibitory neurotransmission and subsequent excessive activation ... Read more >>

Hum. Gene Ther. (Human gene therapy)
[2020, 31(5-6):339-351]

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When Monogenic Isn't Monogenic-Unravelling the Oligogenic Architecture of the Developmental and Epileptic Encephalopathies.

Ingrid E Scheffer, Jianxiang Liao,

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

Epilepsy Curr (Epilepsy currents)
[2019, 19(6):417-419]

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SCN1B-linked early infantile developmental and epileptic encephalopathy.

Alec Aeby, Claudine Sculier, Alexandra A Bouza, Brandon Askar, Damien Lederer, Anne-Sofie Schoonjans, Marc Vander Ghinst, Berten Ceulemans, James Offord, Luis F Lopez-Santiago, Lori L Isom,

OBJECTIVE:Patients with Early Infantile Epileptic Encephalopathy (EIEE) 52 have inherited, homozygous variants in the gene SCN1B, encoding the voltage-gated sodium channel (VGSC) β1 and β1B non-pore-forming subunits. METHODS:Here, we describe the detailed electroclinical features of a biallelic SCN1B patient with a previously unreported variant, p.Arg85Cys. RESULTS:The female proband showed hypotonia ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2019, 6(12):2354-2367]

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PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?

Piero Pavone, Giovanni Corsello, Sung Yoon Cho, Xena Giada Pappalardo, Martino Ruggieri, Simona Domenica Marino, Dong Kyu Jin, Silvia Marino, Raffaele Falsaperla,

BACKGROUND:Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoclonus of early infancy, and/or with dyskinetic paroxysms such as paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, and exercise-induced dyskinesia. However, the clinical manifestations ... Read more >>

Ital J Pediatr (Italian journal of pediatrics)
[2019, 45(1):159]

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Epilepsy and cannabidiol: a guide to treatment.

Alexis Arzimanoglou, Ulrich Brandl, J Helen Cross, Antonio Gil-Nagel, Lieven Lagae, Cecilie Johannessen Landmark, Nicola Specchio, Rima Nabbout, Elizabeth A Thiele, Oliver Gubbay, The Cannabinoids International Experts Panel, ,

The growing interest in cannabidiol (CBD), specifically a pure form of CBD, as a treatment for epilepsy, among other conditions, is reflected in recent changes in legislation in some countries. Although there has been much speculation about the therapeutic value of cannabis-based products as an anti-seizure treatment for some time, ... Read more >>

Epileptic Disord (Epileptic disorders : international epilepsy journal with videotape)
[2020, 22(1):1-14]

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Safety and Effectiveness of the Prolonged Treatment of Children with a Ketogenic Diet.

Jana Ruiz Herrero, Elvira Cañedo Villarroya, Juan José García Peñas, Beatriz García Alcolea, Begoña Gómez Fernández, Laura Andrea Puerta Macfarland, Consuelo Pedrón Giner,

BACKGROUND:The ketogenic diet (KD) is an effective treatment against drug-resistant epilepsy in children. The KD is a diet rich in fats that produces anticonvulsant and neuroprotective effects that reduces seizures and improves the cognitive state. Nevertheless, it can produce side effects that sometimes can be serious. Further, the effect on ... Read more >>

Nutrients (Nutrients)
[2020, 12(2):]

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Dravet Syndrome: An Overview.

Arsalan Anwar, Sidra Saleem, Urvish K Patel, Kogulavadanan Arumaithurai, Preeti Malik,

Dravet syndrome (DS), also known as severe myoclonic epilepsy of infancy (SMEI), is one of the rare early childhood intractable epileptic encephalopathies associated with pleomorphic seizure activity, cognitive decline, motor, and behavioral abnormalities. The convulsive seizure is the most common type seen in DS. After the first episode of seizure-like ... Read more >>

Cureus (Cureus)
[2019, 11(6):e5006]

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Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.

Ana Fernández-Marmiesse, Iria Roca, Felícitas Díaz-Flores, Verónica Cantarín, Mª Socorro Pérez-Poyato, Ana Fontalba, Francisco Laranjeira, Sofia Quintans, Oana Moldovan, Blanca Felgueroso, Montserrat Rodríguez-Pedreira, Rogelio Simón, Ana Camacho, Pilar Quijada, Salvador Ibanez-Mico, Mª Rosario Domingno, Carmen Benito, Rocío Calvo, Antonia Pérez-Cejas, Mª Llanos Carrasco, Feliciano Ramos, Mª Luz Couce, Mª Luz Ruiz-Falcó, Luis Gutierrez-Solana, Margarita Martínez-Atienza,

In order to characterize the genetic architecture of epilepsy in a pediatric population from the Iberian Peninsula (including the Canary Islands), we conducted targeted exome sequencing of 246 patients with infantile-onset seizures with or without neurodevelopmental delay. We detected 107 variants in 48 different genes, which were implicated in neuronal ... Read more >>

Front Neurosci (Frontiers in neuroscience)
[2019, 13:1135]

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Parasitic pharmacology: A plausible mechanism of action for cannabidiol.

Geert Jan Groeneveld, Jennifer H Martin,

Br J Clin Pharmacol (British journal of clinical pharmacology)
[2020, 86(2):189-191]

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Novel and de novo mutation of PCDH19 in Girls Clustering Epilepsy.

Li Yang, Jing Liu, Quanping Su, Yufen Li, Xiaofan Yang, Liyun Xu, Lili Tong, Baomin Li,

BACKGROUND:PCDH19 has become the second most relevant gene in epilepsy after SCN1A. Seizures often provoked by fever. METHODS:We screened 152 children with fever-sensitive epilepsy for gene detection. Their clinical information was followed up. RESULTS:We found eight PCDH19 point mutations (four novel and four reported) and one whole gene deletion in ... Read more >>

Brain Behav (Brain and behavior)
[2019, 9(12):e01455]

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Genetic Control of Collective Behavior in Zebrafish.

Wenlong Tang, Jacob D Davidson, Guoqiang Zhang, Katherine E Conen, Jian Fang, Fabrizio Serluca, Jingyao Li, Xiaorui Xiong, Matthew Coble, Tingwei Tsai, Gregory Molind, Caroline H Fawcett, Ellen Sanchez, Peixin Zhu, Iain D Couzin, Mark C Fishman,

Many animals, including humans, have evolved to live and move in groups. In humans, disrupted social interactions are a fundamental feature of many psychiatric disorders. However, we know little about how genes regulate social behavior. Zebrafish may serve as a powerful model to explore this question. By comparing the behavior ... Read more >>

iScience (iScience)
[2020, 23(3):100942]

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Home-cage monitoring ascertains signatures of ictal and interictal behavior in mouse models of generalized seizures.

Miranda J Jankovic, Paarth P Kapadia, Vaishnav Krishnan,

Epilepsy is a significant contributor to worldwide disability. In epilepsy, disability can be broadly divided into two components: ictal (pertaining to the burden of unpredictable seizures and associated medical complications including death) and interictal (pertaining to more pervasive debilitating changes in cognitive and emotional behavior). In this study, we objectively ... Read more >>

PLoS ONE (PloS one)
[2019, 14(11):e0224856]

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Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes.

Elena Gardella, Rikke S Møller,

Pathogenic variants in SCN8A have originally been described in patients with developmental and epileptic encephalopathy (DEE). However, recent studies have shown that SCN8A variants can be associated with a broader phenotypic spectrum, including the following: (1) Patients with early onset, severe DEE, developing severe cognitive and motor regression, pyramidal/extrapyramidal signs, ... Read more >>

Epilepsia (Epilepsia)
[2019, 60 Suppl 3:S77-S85]

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GluN2A NMDA Receptor Enhancement Improves Brain Oscillations, Synchrony, and Cognitive Functions in Dravet Syndrome and Alzheimer's Disease Models.

Jesse E Hanson, Keran Ma, Justin Elstrott, Martin Weber, Sandrine Saillet, Abdullah S Khan, Jeffrey Simms, Benjamin Liu, Thomas A Kim, Gui-Qiu Yu, Yelin Chen, Tzu-Ming Wang, Zhiyu Jiang, Bianca M Liederer, Gauri Deshmukh, Hilda Solanoy, Connie Chan, Benjamin D Sellers, Matthew Volgraf, Jacob B Schwarz, David H Hackos, Robby M Weimer, Morgan Sheng, T Michael Gill, Kimberly Scearce-Levie, Jorge J Palop,

NMDA receptors (NMDARs) play subunit-specific roles in synaptic function and are implicated in neuropsychiatric and neurodegenerative disorders. However, the in vivo consequences and therapeutic potential of pharmacologically enhancing NMDAR function via allosteric modulation are largely unknown. We examine the in vivo effects of GNE-0723, a positive allosteric modulator of GluN2A-subunit-containing NMDARs, on ... Read more >>

Cell Rep (Cell reports)
[2020, 30(2):381-396.e4]

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Long Non-Coding RNAs and Related Molecular Pathways in the Pathogenesis of Epilepsy.

Chiara Villa, Marialuisa Lavitrano, Romina Combi,

Epilepsy represents one of the most common neurological disorders characterized by abnormal electrical activity in the central nervous system (CNS). Recurrent seizures are the cardinal clinical manifestation. Although it has been reported that the underlying pathological processes include inflammation, changes in synaptic strength, apoptosis, and ion channels dysfunction, currently the ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2019, 20(19):]

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Efficacy and Tolerance of Synthetic Cannabidiol for Treatment of Drug Resistant Epilepsy.

Kerstin A Klotz, Daniel Grob, Martin Hirsch, Birgitta Metternich, Andreas Schulze-Bonhage, Julia Jacobs,

Objective: Controlled and open label trials have demonstrated efficacy of cannabidiol for certain epileptic encephalopathies. However, plant derived cannabidiol products have been used almost exclusively. Efficacy of synthetically derived cannabidiol has not been studied before. The objective of this study was to evaluate tolerability and efficacy of synthetic cannabidiol in ... Read more >>

Front Neurol (Frontiers in neurology)
[2019, 10:1313]

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Dravet Syndrome: A Developmental and Epileptic Encephalopathy.

Luis Lopez-Santiago, Lori L Isom,

Selective Nav1.1 Activation Rescues Dravet Syndrome Mice From Seizures and Premature Death Richards KL, Milligan CJ, Richardson RJ, Jancovski N, Grunnet M, Jacobson LH, Undheim EAB, Mobli M, Chow CY, Herzig V, Csoti A, Panyi G, Reid CA, King GF, Petrou S. PNAS. 2018;115:E8077-E8085. Dravet syndrome is a catastrophic, pharmaco-resistant ... Read more >>

Epilepsy Curr (Epilepsy currents)
[2019, 19(1):51-53]

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Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations.

Saada Alame, Eliane El-Houwayek, Caroline Nava, Sandra Sabbagh, Ali Fawaz, Anne-Celine Gillart, Dana Hasbini, Christel Depienne, André Mégarbané,

Dravet syndrome, also known as severe myoclonic epilepsy in infancy, is a rare disease characterized by the appearance of different types of seizures in a healthy baby, triggered by various factors and stressful events. We report 8 Lebanese cases referred for molecular analysis of the SCN1A gene. Results were positive ... Read more >>

Case Rep Med (Case Reports in Medicine)
[2019, 2019:5270503]

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Cannabis-based treatments as an alternative remedy for epilepsy.

Abhimanyu S Ahuja,

Integr Med Res (Integrative medicine research)
[2019, 8(3):200-201]

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Defective Excitatory/Inhibitory Synaptic Balance and Increased Neuron Apoptosis in a Zebrafish Model of Dravet Syndrome.

Alexandre Brenet, Rahma Hassan-Abdi, Julie Somkhit, Constantin Yanicostas, Nadia Soussi-Yanicostas,

Dravet syndrome is a type of severe childhood epilepsy that responds poorly to current anti-epileptic drugs. In recent years, zebrafish disease models with Scn1Lab sodium channel deficiency have been generated to seek novel anti-epileptic drug candidates, some of which are currently undergoing clinical trials. However, the spectrum of neuronal deficits ... Read more >>

Cells (Cells)
[2019, 8(10):]

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A Preventable Ataxia: Cerebrotendinous Xanthomatosis.

Bhagya Shaji, B Srikumar, Dileep Ramachandran,

Cerebrotendinous xanthomatosis is an autosomal recessive inborn error of metabolism that is an often missed but treatable cause of hereditary ataxia. We report a case of cerebrotendinous xanthomatosis (CTX) that was diagnosed only after the development of cognitive decline and adult onset ataxia in a 35-year-old man. He had poor ... Read more >>

Ann Indian Acad Neurol (Annals of Indian Academy of Neurology)
[2019, 22(4):493-496]

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