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Epileptiform Normal Variants on EEG

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The Hippocampal Barque: An Epileptiform but Non-epileptic Hippocampal Entity.

Vasileios Kokkinos, Robert Mark Richardson, Alexandra Urban,

Front Hum Neurosci (Frontiers in Human Neuroscience)
[2020, 14:]

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Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background.

M N Savini, A Mingarelli, A Peron, F La Briola, F Cervi, R M Alfano, M P Canevini, A Vignoli,

BACKGROUND:Seizures in individuals affected by tuberous sclerosis complex (TSC) commonly develop in the first year of life, are often preceded by a progressive deterioration of the electroencephalogram (EEG), and likely influence developmental outcome. Although early diagnosis of TSC has offered a tremendous opportunity to monitor affected patients before seizure onset, ... Read more >>

Ital J Pediatr (Italian journal of pediatrics)
[2020, 46(1):36]

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Therapeutic management of stroke-like episodes varies from that of encephalitis.

Josef Finsterer,

INTRODUCTION:Stroke-like episodes (SLEs) are typical cerebral manifestations of certain mitochondrial disorders (MIDs). They are characterised by a vasogenic edema in a non-vascular distribution. PATIENTS CONCERNS:: none DIAGNOSIS:: SLEs show up on cerebral MRI as stroke-like lesions (SLLs), characterised by vasogenic edema in a non-vascular distribution. SLLs expand in the acute ... Read more >>

Medicine (Baltimore) (Medicine)
[2020, 99(8):e19141]

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Etiology and Clinical Impact of Interictal Periodic Discharges on the Routine Outpatient Scalp EEG.

Fábio Carneiro, Carla Bentes, Ana Rita Peralta,

PURPOSE:Periodic discharges (PDs) are common in acute structural or metabolic brain lesions, but their occurrence during follow-up of epileptic patients in an outpatient setting is rare. Aim of this article was to study whether PDs on the routine outpatient scalp EEG of patients with epilepsy, as compared with nonperiodic epileptiform ... Read more >>

J Clin Neurophysiol (Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society)
[2020, :]

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Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation.

Hua Li, Fang Fang, Manting Xu, Zhimei Liu, Ji Zhou, Xiaohui Wang, Xiaofei Wang, Tongli Han,

Epileptic encephalopathy, caused by mutations in the dynamin-1 (DNM1; NM_004408) gene, is a newly identified neurologic disorder in children. Thus far, the full clinical and electroencephalographic features of children with DNM1 mutation-related epileptic encephalopathy have not been established. The aim of this study is to characterize the phenotypic, genetic, and ... Read more >>

Front Pharmacol (Frontiers in Pharmacology)
[2019, 10:1454]

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Posterior Reversible Encephalopathy Syndrome: Clinical Features and Outcome.

Archana Hinduja,

Background: Posterior reversible encephalopathy syndrome (PRES) is an acute neurotoxic syndrome that is characterized by a spectrum neurological and radiological feature from various risk factors. Common neurological symptoms includes headache, impairment in level of consciousness, seizures, visual disturbances, and focal neurological deficits. Common triggering factors include blood pressure fluctuations, renal ... Read more >>

Front Neurol (Frontiers in neurology)
[2020, 11:71]

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Interictal epileptiform discharges on electroencephalography in children with methylenetetrahydrofolate reductase (MTHFR) polymorphisms.

Elif Karatoprak, Gulhan Sozen, Kutluhan Yılmaz, Işıl Ozer,

OBJECTIVE:Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme involved in folate metabolism. MTHFR C677T and A1298C polymorphisms are best-defined variants of MTHFR that were reported to be associated with epilepsy development. The aim of the study was to determine the incidence of interictal epileptiform discharges on electroencephalography (EEG) in asymptomatic children ... Read more >>

Neurol. Sci. (Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology)
[2020, 41(3):631-636]

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Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature.

Filipa Bastos, Mathieu Quinodoz, Marie-Claude Addor, Beryl Royer-Bertrand, Heidi Fodstad, Carlo Rivolta, Claudia Poloni, Andrea Superti-Furga, Eliane Roulet-Perez, Sebastien Lebon,

BACKGROUND:A new monogenic neurodegenerative disease affecting ribosomal metabolism has recently been identified in association with a monoallelic UBTF putative gain of function variant (NM_001076683.1:c.628G>A, hg19). Phenotype is consistent among these probands with progressive motor, cognitive, and behavioural regression in early to middle childhood. CASE PRESENTATION:We report on a child with ... Read more >>

BMC Neurol (BMC neurology)
[2020, 20(1):17]

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[Genotype and phenotype of children with KCNA2 gene related developmental and epileptic encephalopathy].

P Gong, J Xue, X R Jiao, Y H Zhang, Z X Yang,

Objective: To investigate the genotype and phenotype of children with KCNA2 gene related developmental and epileptic encephalopathy (DEE). Methods: Clinical data including the manifestations and electroencephalogram of 8 children with KCNA2 variants treated in the Department of Pediatrics, Peking University First Hospital from March 2017 to June 2019 were collected ... Read more >>

Zhonghua Er Ke Za Zhi (Zhonghua er ke za zhi = Chinese journal of pediatrics)
[2020, 58(1):35-40]

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A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity.

Yi Guo, Yuanyuan Chen, Min Yang, Xin Xu, Zijun Lin, Junhong Ma, Hongnian Chen, Yida Hu, Yuanlin Ma, Xuefeng Wang, Xin Tian,

Although genetic factors are considered a main etiology of epilepsy, the causes of genetic epilepsy in the majority of epilepsy patients remain unknown. Kinesin family member 1A (KIF1A), a neuron-specific motor protein that moves along with microtubules, is responsible for the transport of membranous organelles and synaptic vesicles. Variants of ... Read more >>

Front Genet (Frontiers in Genetics)
[2020, 11:61]

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Connexins-Based Hemichannels/Channels and Their Relationship with Inflammation, Seizures and Epilepsy.

Laura Medina-Ceja, Juan C Salazar-Sánchez, Jorge Ortega-Ibarra, Alberto Morales-Villagrán,

Connexins (Cxs) are a family of 21 protein isoforms, eleven of which are expressed in the central nervous system, and they are found in neurons and glia. Cxs form hemichannels (connexons) and channels (gap junctions/electric synapses) that permit functional and metabolic coupling between neurons and astrocytes. Altered Cx expression and ... Read more >>

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

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Impaired motor skill learning and altered seizure susceptibility in mice with loss or gain of function of the Kcnt1 gene encoding Slack (KNa1.1) Na+-activated K+ channels.

Imran H Quraishi, Michael R Mercier, Heather McClure, Rachael L Couture, Michael L Schwartz, Robert Lukowski, Peter Ruth, Leonard K Kaczmarek,

Gain-of-function mutations in KCNT1, the gene encoding Slack (KNa1.1) channels, result in epilepsy of infancy with migrating focal seizures (EIMFS) and several other forms of epilepsy associated with severe intellectual disability. We have generated a mouse model of this condition by replacing the wild type gene with one encoding Kcnt1R455H, ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):3213]

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Intractable Generalized Epilepsy and Autosomal Dominant Hypocalcemia: A Case Report.

Gian C Rossi, Amy L Patterson, Amy L McGregor, James W Wheless,

Calcium-sensing receptor gain-of-function mutations are known to cause autosomal dominant hypocalcemia and independently an epilepsy syndrome. We report the unique case of a child with both intractable generalized epilepsy and a chronic abnormality in calcium homeostasis due to a calcium-sensing receptor gene mutation. She is a 16-year-old female who began ... Read more >>

Child Neurol Open (Child neurology open)
[2019, 6:2329048X19876199]

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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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Normal Variants Are Commonly Overread as Interictal Epileptiform Abnormalities.

Joon Y Kang, Gregory L Krauss,

Electroencephalographers may misclassify benign variant EEG patterns as epileptiform discharges, resulting in delays in the diagnosis and appropriate treatment of other paroxysmal disorders, such as psychogenic nonepileptic seizures, anxiety/panic disorders, and near syncope. These benign variant patterns include wicket spikes, small sharp spikes, and rhythmic mid-temporal theta of drowsiness. Cautious ... Read more >>

J Clin Neurophysiol (Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society)
[2019, 36(4):257-263]

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Reversing the myth of phase reversals.

Sukriye Damla Kara, Ushtar Amin, Selim R Benbadis,

Expert Rev Neurother (Expert review of neurotherapeutics)
[2020, 20(1):3-5]

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Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression.

Andres Jimenez-Gomez, Sizhe Niu, Fabiola Andujar-Perez, Elizabeth A McQuade, Alfred Balasa, David Huss, Rohini Coorg, Michael Quach, Sherry Vinson, Sarah Risen, J Lloyd Holder,

BACKGROUND:The SYNGAP1 gene encodes for a small GTPase-regulating protein critical to dendritic spine maturation and synaptic plasticity. Mutations have recently been identified to cause a breadth of neurodevelopmental disorders including autism, intellectual disability, and epilepsy. The purpose of this work is to define the phenotypic spectrum of SYNGAP1 gene mutations ... Read more >>

J Neurodev Disord (Journal of neurodevelopmental disorders)
[2019, 11(1):18]

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A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder.

Takuya Hiraide, Seiji Watanabe, Tomoko Matsubayashi, Kumiko Yanagi, Mitsuko Nakashima, Tsutomu Ogata, Hirotomo Saitsu,

BACKGROUND:TOP2B encodes type II topoisomerase beta, which controls topological changes during DNA transcription. TOP2B is expressed in the developing nervous system and is involved in brain development and neural differentiation. Recently, a de novo missense TOP2B variant (c.187C>T) has been identified in an individual with neurodevelopmental disorder (NDD). However, the ... Read more >>

Mol Genet Genomic Med (Molecular Genetics & Genomic Medicine)
[2020, 8(3):e1145]

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Cerebellar stroke-like lesions in Leigh syndrome due to the variant m.8993T>C in MT-ATP6.

Josef Finsterer,

eNeurologicalSci (eNeurologicalSci)
[2020, 18:100203]

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Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania.

Tyson L Ware, Shannon R Huskins, Bronwyn E Grinton, Yu-Chi Liu, Mark F Bennett, Michael Harvey, Jacinta McMahon, Danae Andreopoulos-Malikotsinas, Melanie Bahlo, Katherine B Howell, Michael S Hildebrand, John A Damiano, Alexander Rosenfeld, Mark T Mackay, Simone Mandelstam, Richard J Leventer, A Simon Harvey, Jeremy L Freeman, Ingrid E Scheffer, Dean L Jones, Samuel F Berkovic,

We sought to determine incidence, etiologies, and yield of genetic testing in infantile onset developmental and epileptic encephalopathies (DEEs) in a population isolate, with an intensive multistage approach. Infants born in Tasmania between 2011 and 2016, with seizure onset <2 years of age, epileptiform EEG, frequent seizures, and developmental impairment, were ... Read more >>

Epilepsia Open (Epilepsia open)
[2019, 4(3):504-510]

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Status Epilepticus Manifested as Continuous Epileptic Spasms.

Jianxiang Liao, Tieshuan Huang, Myriam Srour, Yuhan Xiao, Yan Chen, Sufang Lin, Li Chen, Yan Hu, Lina Men, Jialun Wen, Bing Li, Feiqiu Wen, Lan Xiong,

Objective: The etiology and outcome of status epilepticus with continuous epileptic spasms have not been fully understood; and only rare cases have been reported in the literature. Here, we described 11 children, who manifested continuous epileptic spasms with various etiologies and different outcomes. Methods: This is a case series study ... Read more >>

Front Neurol (Frontiers in neurology)
[2020, 11:65]

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mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly.

Camila A B Garcia, Simone C S Carvalho, Xiaoxu Yang, Laurel L Ball, Renee D George, Kiely N James, Valentina Stanley, Martin W Breuss, Ursula Thomé, Marcelo V Santos, Fabiano P Saggioro, Luciano Neder Serafini, Wilson A Silva, Joseph G Gleeson, Hélio R Machado,

Objectives:Recently, defects in the protein kinase mTOR (mammalian target of rapamycin) and its associated pathway have been correlated with hemimegalencephaly (HME). mTOR acts as a central regulator of important physiological cellular functions such as growth and proliferation, metabolism, autophagy, death, and survival. This study was aimed at identifying specific variants ... Read more >>

Epilepsia Open (Epilepsia open)
[2020, 5(1):97-106]

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Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report.

Kouhei Den, Yosuke Kudo, Mitsuhiro Kato, Kosuke Watanabe, Hiroshi Doi, Fumiaki Tanaka, Hirokazu Oguni, Satoko Miyatake, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Satomi Mitsuhashi, Naomichi Matsumoto,

BACKGROUND:We encountered two unrelated individuals suffering from neurological disorders, including epilepsy and scoliosis. CASE PRESENTATION:Whole-exome sequencing identified the same recurrent, de novo, pathogenic variant in NUS1 [NM_138459.4:c.691 + 1C > A] in both individuals. This variant is located in the conserved cis-prenyltransferase domain of the nuclear undecaprenyl pyrophosphate synthase 1 gene (NUS1), which encodes ... Read more >>

BMC Neurol (BMC neurology)
[2019, 19(1):253]

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Personalized medicine: Vinpocetine to reverse effects of GABRB3 mutation.

Santoshi Billakota, J Michael Andresen, Bryant C Gay, Gregory R Stewart, Nikolai B Fedorov, Aaron C Gerlach, Orrin Devinsky,

OBJECTIVE:To screen a library of potential therapeutic compounds for a woman with Lennox-Gastaut syndrome due to a Y302C GABRB3 (c.905A>G) mutation. METHODS:We compared the electrophysiological properties of cells with wild-type or the pathogenic GABRB3 mutation. RESULTS:Among 1320 compounds, multiple candidates enhanced GABRB3 channel conductance in cell models. Vinpocetine, an alkaloid ... Read more >>

Epilepsia (Epilepsia)
[2019, 60(12):2459-2465]

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Transient Epileptic Amnesia: A Treatable Cause of Spells Associated With Persistent Cognitive Symptoms.

Vijay K Ramanan, Kenneth A Morris, Jonathan Graff-Radford, David T Jones, David B Burkholder, Jeffrey W Britton, Keith A Josephs, Bradley F Boeve, Rodolfo Savica,

Objective: To characterize the clinical, EEG, and neuroimaging profiles of transient epileptic amnesia (TEA). Methods: We performed a retrospective analysis of patients diagnosed with TEA at the Mayo Clinic Minnesota from January 1, 1998 to September 21, 2017. Diagnostic criteria included the presence of recurrent episodes of transient amnesia with ... Read more >>

Front Neurol (Frontiers in Neurology)
[2019, 10:939]

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