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Epileptic and Epileptiform Encephalopathies

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What are the epileptic encephalopathies?

Marina Trivisano, Nicola Specchio,

PURPOSE OF REVIEW:To review the evolution of the concept of epileptic encephalopathy during the course of past years and analyze how the current definition might impact on both clinical practice and research. RECENT FINDINGS:Developmental delay in children with epilepsy could be the expression of the cause, consequence of intense epileptiform ... Read more >>

Curr. Opin. Neurol. (Current opinion in neurology)
[2020, 33(2):179-184]

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Recurrent epileptic seizures following cardiac catheterization with iodixanol: a case report.

Pingping Lei, Weiping He, Quan Shi, Meiying Sun, Zhigang Sun,

BACKGROUND:Contrast-induced encephalopathy (CIE) is a rare complication of cardiac catheterization; clinical manifestations include cortical blindness, seizures and focal neurological deficits. In general, recurrent epileptic seizures following cardiac catheterization with iodixanol occur more rarely than do other complications. CASE PRESENTATION:Here, we report a case of a 76-year-old male patient who experienced ... Read more >>

BMC Cardiovasc Disord (BMC cardiovascular disorders)
[2020, 20(1):79]

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Clinical and Genetic Profile of Autism Spectrum Disorder-Epilepsy (ASD-E) Phenotype: Two Sides of the Same Coin!

Sudhakar Karunakaran, Ramshekhar N Menon, Sruthi S Nair, S Santhakumar, Muralidharan Nair, Soumya Sundaram,

The clinical phenotype of autism spectrum disorder and epilepsy (ASD-E) is a common neurological presentation in various genetic disorders, irrespective of the underlying pathophysiological mechanisms. Here we describe the demographic and clinical profiles, coexistent neurological conditions, type of seizures, epilepsy syndrome, and EEG findings in 11 patients with ASD-E phenotype ... Read more >>

Clin EEG Neurosci (Clinical EEG and neuroscience)
[2020, :1550059420909673]

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A reflection on the role of genetics in the concept of "epileptic encephalopathy", as emerged from the most recent ILEA classification of epilepsy.

Angelo Russo, Giuseppe Gobbi,

The International League Against Epilepsy (ILAE) has been working to standardize the epilepsy classifications for over a hundred years.The latest epilepsy classification has been recently carried out with a careful overview on several topics including the "epileptic encephalopathies" concept and several constructive discussions on this topic have taken place in ... Read more >>

Ital J Pediatr (Italian journal of pediatrics)
[2020, 46(1):2]

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Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy.

Ji-Hoon Na, Saeam Shin, Donghwa Yang, Borahm Kim, Heung Dong Kim, Sehee Kim, Joon-Soo Lee, Jong-Rak Choi, Seung-Tae Lee, Hoon-Chul Kang,

BACKGROUND:Early-onset developmental and epileptic encephalopathy (DEE) is characterized by repeated seizures beginning within 3 months of birth and severe interictal epileptiform discharge, including burst suppression. This study assessed the utility of targeted gene panel sequencing in the genetic diagnosis of this disease. MATERIALS AND METHODS:Targeted gene panel sequencing was performed in ... Read more >>

Brain Dev. (Brain & development)
[2020, :]

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Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders.

Yumei Yan, Dake He, Jing Wu, Ruolin Hou, Kun Sun, Ling Li,

OBJECTIVE:CDKL5-related disorders (CDD) is an epileptic encephalopathy resulted of gene mutations of CDKL5. This study aimed to explore the development process of CDD and to expand its mutation spectrum. METHODS:Clinic datawas collected about three infantile epileptic encephalopathy cases diagnosed at Xinhua Hospital Affiliated to Shanghai Jiaotong University, School of Medicine. ... Read more >>

Ital J Pediatr (Italian journal of pediatrics)
[2020, 46(1):27]

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Deciphering the concepts behind "Epileptic encephalopathy" and "Developmental and epileptic encephalopathy".

Ingrid E Scheffer, Jianxiang Liao,

The recent introduction of the term 'developmental and epileptic encephalopathy' by the International League Against Epilepsy has added another conceptual layer to understanding the most severe group of epilepsies. An epileptic encephalopathy is defined by the presence of frequent epileptiform activity that impacts adversely on development, typically causing slowing or ... Read more >>

Eur. J. Paediatr. Neurol. (European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society)
[2020, 24:11-14]

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Applications of advanced signal processing and machine learning in the neonatal hypoxic-ischemic electroencephalogram.

Hamid Abbasi, Charles P Unsworth,

Perinatal hypoxic-ischemic-encephalopathy significantly contributes to neonatal death and life-long disability such as cerebral palsy. Advances in signal processing and machine learning have provided the research community with an opportunity to develop automated real-time identification techniques to detect the signs of hypoxic-ischemic-encephalopathy in larger electroencephalography/amplitude-integrated electroencephalography data sets more easily. This ... Read more >>

Neural Regen Res (Neural regeneration research)
[2020, 15(2):222-231]

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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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Acute visual impairment as a main presenting symptom of non-convulsive status epilepticus: a case report.

Yi Yang, Shunyuan Zhang, Jinfeng Duan, Xianwen Zhang, Yufeng Tang,

BACKGROUND:Nonconvulsive status epilepticus (NCSE) is a state of ongoing seizure activity without convulsions. The heterogeneous and subtle clinical features of NCSE make diagnosis and treatment challenging. Here, we report a patient with NCSE who showed a main presenting symptom of acute visual impairment, which is a rare and atypical clinical ... Read more >>

BMC Neurol (BMC neurology)
[2020, 20(1):51]

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Propensity for seizure-related cortical laminar necrosis in hepatic encephalopathy.

James Peters, Nirosen Vijiaratnam, Joseph Z W Wong, Sonia Jitpiriyaroj, Ronil V Chandra, Peter A Kempster,

•Hepatic encephalopathy may predispose to seizure-related cortical laminar necrosis.•Elevated ammonia levels potentially compound the excitotoxic effects of epilepsy.•Early identification and treatment of seizures in liver disease could be protective. ... Read more >>

Epilepsy Behav Rep (Epilepsy & behavior reports)
[2019, 12:100348]

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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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Astrocytic modulation of potassium under seizures.

Fushun Wang, Xiaoming Qi, Jun Zhang, Jason H Huang,

The contribution of an impaired astrocytic K+ regulation system to epileptic neuronal hyperexcitability has been increasingly recognized in the last decade. A defective K+ regulation leads to an elevated extracellular K+ concentration ([K+]o). When [K+]o reaches peaks of 10-12 mM, it is strongly associated with seizure initiation during hypersynchronous neuronal ... Read more >>

Neural Regen Res (Neural regeneration research)
[2020, 15(6):980-987]

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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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Epilepsy syndromes of childhood with sleep activation: Insights from functional imaging.

Patrick Van Bogaert,

In epilepsy syndromes of childhood with sleep activation, defined as the spectrum of epileptic conditions going from classical benign childhood epilepsy with centrotemporal spikes (BECTS) to epileptic encephalopathy (EE) with continuous spike and waves during slow-wave sleep (CSWS) including Landau-Kleffner syndrome (LKS), a lot of functional imaging studies have been ... Read more >>

Eur. J. Paediatr. Neurol. (European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society)
[2020, 24:58-60]

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[Electroclinical characteristics of epilepsy children with midline epileptiform discharges related epileptic negative myoclonus as the first symptom].

P Gong, J Xue, P Qian, H P Yang, Y H Zhang, Y W Jiang, Z X Yang,

Objective: To investigate the electroclinical findings in epilepsy children with epileptic negative myoclonus (ENM) restricted to the lower limb as the first seizure type. Methods: Each retrieved electroencephalogram record performed between March 2011 and March 2018 at the Department of Pediatrics of Peking University First Hospital was searched with "midline" ... Read more >>

Zhonghua Er Ke Za Zhi (Zhonghua er ke za zhi = Chinese journal of pediatrics)
[2019, 57(12):943-949]

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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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The clinical value of long - term electroencephalogram (EEG) in seizure - free populations: implications from a cross-sectional study.

Tang Xinghua, Li Lin, Fan Qinyi, Wei Yarong, Pu Zheng, Liu Zhenguo,

BACKGROUD:This study aimed to explore the clinical value of long - term electroencephalogram (LTM EEG) in seizure-free individuals taking antiepileptic drugs (AEDs) for more than 2 years. We try to look for clinical factors associated with epileptiform activity on LTM EEG in seizure free patients. We hope that the detection of ... Read more >>

BMC Neurol (BMC neurology)
[2020, 20(1):88]

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EEG in the Pediatric Intensive Care Unit-An Irish Experience.

Laura MacDarby, Martina Healy, Gerard Curley, John C McHugh,

INTRODUCTION:Evidence for continuous EEG monitoring in the pediatric intensive care unit (PICU) is increasing. However, 24/7 access to EEG is not routinely available in most centers, and clinical management is often informed by more limited EEG resources. The experience of EEG was reviewed in a tertiary PICU where 24/7 EEG ... Read more >>

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

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Limited efficacy of zonisamide in the treatment of refractory infantile spasms.

Shaun A Hussain, Mario Navarro, Jaeden Heesch, Matthew Ji, Brenda Asilnejad, Haley Peters, Rajsekar R Rajaraman, Raman Sankar,

A series of relatively small studies collectively suggest that zonisamide may be effective in the treatment of infantile spasms. Using a large single-center cohort of children with infantile spasms, we set out to evaluate the efficacy and safety of zonisamide. We retrospectively identified all patients with infantile spasms who were ... Read more >>

Epilepsia Open (Epilepsia open)
[2020, 5(1):121-126]

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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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Electroencephalographic biomarkers of epilepsy development in patients with acute brain injury: a matched, parallel cohort study.

Vineet Punia, Zachary Fitzgerald, Xiaoming Zhang, Huan Huynh, James Bena, Shannon Morrison, Christopher R Newey, Stephen Hantus,

OBJECTIVE:This study was designed to investigate if highly epileptic electroencephalogram (EEG) findings in patients with acute brain injury increase the long-term risk of epilepsy development. METHODS:Adults patients, lacking epilepsy history, with electrographic seizures or lateralized periodic discharges (LPDs) (cases) were identified and matched based on age, mental status, and etiology ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2019, 6(11):2230-2239]

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Genetic and clinical features of SCN8A developmental and epileptic encephalopathy.

Hyo Jeong Kim, Donghwa Yang, Se Hee Kim, Borahm Kim, Heung Dong Kim, Joon Soo Lee, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Kang,

OBJECTIVE:We aim to delineate the genetic and clinical features of SCN8A developmental and epileptic encephalopathy. METHODS:Nine patients with SCN8A developmental and epileptic encephalopathy were included in this study. Genetic and clinical features and effectiveness of sodium channel blockers were assessed in patients who were confirmed with SCN8A mutations. RESULTS:The onset ... Read more >>

Epilepsy Res. (Epilepsy research)
[2019, 158:106222]

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Improvement in Impaired Social Cognition but Not Seizures by Everolimus in a Child with Tuberous Sclerosis-Associated Autism through Increased Serum Antioxidant Proteins and Oxidant/Antioxidant Status.

Kunio Yui, George Imataka, Hitomi Sasaki, Yohei Kawasaki, Tohru Okanshi, Ryoichi Shiroki, Shigemi Yoshihara,

We investigated the effect of the mammalian target of rapamycin (mTOR) inhibitor everolimus on tuberous sclerosis complex- (TSC-) associated autistic symptoms and focal seizures with impaired awareness in a female child with TSC. We further evaluated the relationship between improved autistic symptoms and seizures and increased the serum levels of ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2019, 2019:2070619]

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Epilepsy in spinocerebellar ataxia type 8: a case report.

Arun Swaminathan,

BACKGROUND:Spinocerebellar ataxia type 8 is an uncommon genetic condition and presents with gait disturbances, ataxia, dysarthria, nystagmus, and cognitive and psychiatric abnormalities. Seizures are extremely uncommon in the spinocerebellar ataxias and have been reported only once before in a patient with spinocerebellar ataxia type 8. This case report highlights the ... Read more >>

J Med Case Rep (Journal of medical case reports)
[2019, 13(1):333]

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