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neonatal epilepsy

Eivind Kolstad, Gyri Veiby, Nils Erik Gilhus, Marte Bjørk
OBJECTIVE: To investigate whether prepregnancy overweight in women with epilepsy increases their risk for complications during pregnancy and delivery. METHODS: This study is based on The Norwegian Mother and Child Cohort Study (MoBa) linked to the Medical Birth Registry of Norway. A diagnosis of epilepsy was reported in 706 pregnancies. Overweight was defined as body mass index ≥ 25 prepregnancy. Overweight women with epilepsy (n = 259) were compared to normal-weight women with epilepsy (n = 416), and to women without epilepsy with and without overweight (n = 30,516 and n = 67,977, respectively)...
October 13, 2016: Epilepsia
Mohamed A Hendaus, Fatima A Jomha, Ahmed H Alhammadi
Perinatal hypoxic-ischemic encephalopathy (HIE) affects one to three per 1,000 live full-term births and can lead to severe and permanent neuropsychological sequelae, such as cerebral palsy, epilepsy, mental retardation, and visual motor or visual perceptive dysfunction. Melatonin has begun to be contemplated as a good choice in order to diminish the neurological sequelae from hypoxic-ischemic brain injury. Melatonin emerges as a very interesting medication, because of its capacity to cross all physiological barriers extending to subcellular compartments and its safety and effectiveness...
2016: Neuropsychiatric Disease and Treatment
Ezhilarasi Krishnamoorthy, Sameer Hassan, Luke Elizabeth Hanna, Indira Padmalayam, Rama Rajaram, Vijay Viswanathan
Lipoic acid synthase (LIAS) is an iron-sulfur cluster mitochondrial enzyme which catalyzes the final step in the de novo pathway for the biosynthesis of lipoic acid, a potent antioxidant. Recently there has been significant interest in its role in metabolic diseases and its deficiency in LIAS expression has been linked to conditions such as diabetes, atherosclerosis and neonatal-onset epilepsy, suggesting a strong inverse correlation between LIAS reduction and disease status. In this study we use a bioinformatics approach to predict its structure, which would be helpful to understanding its role...
October 4, 2016: Journal of Theoretical Biology
(no author information available yet)
'Healthcare professionals need greater awareness of the features of benign neonatal sleep myoclonus to reduce the number of neonates undergoing unnecessary investigations and avoid misdiagnosis of the condition as epilepsy.'
October 7, 2016: Nursing Children and Young People
Yukiko Hashimoto, Sumito Dateki, Masakazu Hirose, Kenichi Satomura, Hirotake Sawada, Haruo Mizuno, Shigetaka Sugihara, Koichi Maruyama, Tatsuhiko Urakami, Hidenori Sugawara, Kenji Shirai, Tohru Yorifuji
BACKGROUND: There are few reports pertaining to Asian patients with neonatal diabetes mellitus (NDM) caused by activating mutations in the ATP-sensitive potassium channel genes (KATP-NDM). OBJECTIVES: To elucidate the characteristics of Japanese patients with KATP-NDM. METHODS: By the amplification and direct sequencing of all exons and exon-intron boundaries of the KCNJ11 and ABCC8 genes, 25 patients with KATP-NDM were identified from a total of 70 patients with NDM...
September 29, 2016: Pediatric Diabetes
Helen Adams, Karen Greaves, Siba Prosad Paul
Parents of newborns can be reassured if healthcare professionals are aware of benign neonatal sleep myoclonus (BNSM) so it is not mistaken for epilepsy.
September 2016: Emergency Nurse: the Journal of the RCN Accident and Emergency Nursing Association
Ruchi Malik, Pakhuri Mehta, Shubham Srivastava, Bhanwar Singh Choudhary, Manish Sharma
Biological mechanism attributing mutations in KCNQ2/Q3 results in benign familial neonatal epilepsy (BFNE), a rare form of epilepsy and thus neglected. It offers a potential target for antiepileptic drug discovery. In the present work, a pharmacophore-based 3D-QSAR model was generated for a series of N-pyridyl and pyrimidine benzamides possessing KCNQ2/Q3 opening activity. The pharmacophore model generated contains one hydrogen bond donor (D), one hydrophobic (H), and two aromatic rings (R). They are the crucial molecular write-up detailing predicted binding efficacy of high affinity and low affinity ligands for KCNQ2/Q3 opening activity...
September 8, 2016: Journal of Receptor and Signal Transduction Research
John J Millichap, Kristen L Park, Tammy Tsuchida, Bruria Ben-Zeev, Lionel Carmant, Robert Flamini, Nishtha Joshi, Paul M Levisohn, Eric Marsh, Srishti Nangia, Vinodh Narayanan, Xilma R Ortiz-Gonzalez, Marc C Patterson, Phillip L Pearl, Brenda Porter, Keri Ramsey, Emily L McGinnis, Maurizio Taglialatela, Molly Tracy, Baouyen Tran, Charu Venkatesan, Sarah Weckhuysen, Edward C Cooper
OBJECTIVE: To advance the understanding of KCNQ2 encephalopathy genotype-phenotype relationships and to begin to assess the potential of selective KCNQ channel openers as targeted treatments. METHODS: We retrospectively studied 23 patients with KCNQ2 encephalopathy, including 11 treated with ezogabine (EZO). We analyzed the genotype-phenotype relationships in these and 70 previously described patients. RESULTS: The mean seizure onset age was 1...
October 2016: Neurology. Genetics
Liudmila Kharoshankaya, Nathan J Stevenson, Vicki Livingstone, Deirdre M Murray, Brendan P Murphy, Caroline E Ahearne, Geraldine B Boylan
AIM: To examine the relationship between electrographic seizures and long-term outcome in neonates with hypoxic-ischemic encephalopathy (HIE). METHOD: Full-term neonates with HIE born in Cork University Maternity Hospital from 2003 to 2006 (pre-hypothermia era) and 2009 to 2012 (hypothermia era) were included in this observational study. All had early continuous electroencephalography monitoring. All electrographic seizures were annotated. The total seizure burden and hourly seizure burden were calculated...
September 6, 2016: Developmental Medicine and Child Neurology
Tristan T Sands, Tiffani L McDonough
PURPOSE OF REVIEW: This article strives to review and summarize selected recent literature and topics contributing to a greater understanding of the diagnosis and treatments of neonatal seizures that have emerged in the past several years. RECENT FINDINGS: Continuous EEG is recommended as the gold standard for neonatal seizure monitoring as it can provide additional information that may stratify patients by etiology, as well as identify at-risk groups of newborns for neuromonitoring...
October 2016: Current Neurology and Neuroscience Reports
Unnikrishnan Krishnan Syam, Sanjeev V Thomas
PURPOSE: To study the epileptiform discharges (EDs) in the electroencephalogram (EEG) of 6-8-year-old children of women with epilepsy (WWE). MATERIALS AND METHODS: All children born to women with epilepsy and prospectively followed up through the Kerala Registry of Epilepsy and Pregnancy (KREP), aged 6-8 years, were invited (n = 532). Out of the 254 children who responded, clinical evaluations and a 30-min digital 18 channel EEG were completed in 185 children. RESULTS: Of the 185 children examined, 37 (20%) children (19 males, 18 females) had ED in their EEG...
July 2016: Annals of Indian Academy of Neurology
Majken B Thomsen, Thea P Lillethorup, Steen Jakobsen, Erik H Nielsen, Mette Simonsen, Gregers Wegener, Anne M Landau, R Andrew Tasker
RATIONALE: Epilepsy is a debilitating seizure disorder that affects approximately 50 million people. Noradrenaline reduces neuronal excitability, has anticonvulsant effects and is protective against seizure onset. OBJECTIVE: We investigated the role of α2-adrenoceptors in vivo in a neonatal domoic acid (DOM) rat model of epilepsy. METHODS: We injected male Sprague-Dawley rats daily from postnatal day 8-14 with saline or one of two sub-convulsive doses, 20 μg/kg (DOM20) or 60 μg/kg (DOM60) DOM, an AMPA/kainate receptor agonist...
October 2016: Psychopharmacology
Filip Rybakowski, Izabela Chojnicka, Piotr Dziechciarz, Andrea Horvath, Małgorzata Janas-Kozik, Anetta Jeziorek, Ewa Pisula, Anna Piwowarczyk, Agnieszka Słopień, Joanna Sykut-Cegielska, Hanna Szajewska, Krzysztof Szczałuba, Krystyna Szymańska, Anna Waligórska, Aneta Wojciechowska, Michał Wroniszewski, Anna Dunajska
Autism spectrum disorders (ASD) are caused by disruptions in early stages of central nervous system development and are usually diagnosed in first years of life. Despite common features such as impairment of socio-communicative development and stereotypical behaviours, ASD are characterised by heterogeneous course and clinical picture. The most important aetiological factors comprise genetic and environmental influences acting at prenatal, perinatal and neonatal period. The role of rare variants with large effect i...
2016: Psychiatria Polska
Mikko Muona, Ryosuke Ishimura, Anni Laari, Yoshinobu Ichimura, Tarja Linnankivi, Riikka Keski-Filppula, Riitta Herva, Heikki Rantala, Anders Paetau, Minna Pöyhönen, Miki Obata, Takefumi Uemura, Thomas Karhu, Norihisa Bizen, Hirohide Takebayashi, Shane McKee, Michael J Parker, Nadia Akawi, Jeremy McRae, Matthew E Hurles, Outi Kuismin, Mitja I Kurki, Anna-Kaisa Anttonen, Keiji Tanaka, Aarno Palotie, Satoshi Waguri, Anna-Elina Lehesjoki, Masaaki Komatsu
The ubiquitin fold modifier 1 (UFM1) cascade is a recently identified evolutionarily conserved ubiquitin-like modification system whose function and link to human disease have remained largely uncharacterized. By using exome sequencing in Finnish individuals with severe epileptic syndromes, we identified pathogenic compound heterozygous variants in UBA5, encoding an activating enzyme for UFM1, in two unrelated families. Two additional individuals with biallelic UBA5 variants were identified from the UK-based Deciphering Developmental Disorders study and one from the Northern Finland Intellectual Disability cohort...
September 1, 2016: American Journal of Human Genetics
Phillip L Pearl
Vitamin-dependent epilepsies and multiple metabolic epilepsies are amenable to treatment that markedly improves the disease course. Knowledge of these amenably treatable severe pediatric epilepsies allows for early identification, testing, and treatment. These disorders present with various phenotypes, including early onset epileptic encephalopathy (refractory neonatal seizures, early myoclonic encephalopathy, and early infantile epileptic encephalopathy), infantile spasms, or mixed generalized seizure types in infancy, childhood, or even adolescence and adulthood...
May 2016: Seminars in Pediatric Neurology
Montesclaros Hortigüela, Ana Fernández-Marmiesse, Verónica Cantarín, Sofía Gouveia, Juan J García-Peñas, Carmen Fons, Judith Armstrong, Desirée Barrios, Felícitas Díaz-Flores, Pilar Tirado, María L Couce, Luis G Gutiérrez-Solana
The KCNQ2 gene codifies a subunit of the voltage-gated potassium M channel underlying the neuronal M-current. Classically, mutations in this gene have been associated with benign familial neonatal seizures, however, in recent years KCNQ2 mutations have been reported associated to early-onset epileptic encephalopathy. In this work, detailed familiar, clinical and genetic data were collected for 13 KCNQ2-positive patients revealed among a cohort of 80 epileptic pediatric probands from Spain who were analyzed through a targeted next-generation sequencing assay for 155 epilepsy-associated genes...
August 18, 2016: Journal of Human Genetics
Svetlana Gataullina, Julia Lauer-Zillhardt, Anna Kaminska, Louise Galmiche-Rolland, Nadia Bahi-Buisson, Clément Pontoizeau, Chris Ottolenghi, Olivier Dulac, Catherine Fallet-Bianco
We report the cases of a brother and a sister of nonconsanguineous parents who developed progressive microcephaly and had tremor, irritability, spasticity, startle reflexes, and permanent erratic myoclonus since birth. Focal clonic seizures, status epilepticus, and infantile spasms appeared later, during the first months of life, while erratic myoclonic jerks persisted. Electroencephalogram initially showed multifocal spikes that evolved into modified hypsarrhythmia and then discontinuous activity, evoking the progressive nature of the condition...
August 14, 2016: Neuropediatrics
J Xue, Z X Yang, H Li, P Qian, Y Wu, Y W Jiang, X Y Liu
OBJECTIVE: To analyze the clinical and genetic characteristics of patients with pyridoxine dependent epilepsy (PDE), and build a method to detect and analyze the concentration of urinary pipecolic acid in PDE patients receiving pyridoxine treatment. METHOD: Twelve patients (8 were male, 4 were female) were diagnosed as PDE in Peking University First Hospital between April 2012 and September 2015. The clinical manifestations, diagnosis and treatment process, video-electroencephalogram, magnetic resonance imaging were retrospectively analyzed...
August 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Page B Pennell
Although prenatal exposure to antiepileptic drugs (AEDs) is known to impart relatively higher risks of major congenital malformations, prospective studies have provided refined data that allow us to differentiate the risks of different types and doses of AEDs. As the number of AED prescriptions has dramatically increased in reproductive-aged women with a variety of neuropsychiatric indications, the evolving concepts learned from studies in women with epilepsy can be applied to a much larger group of pregnant women to improve child outcomes while maintaining maternal disease control...
August 8, 2016: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
Fabian Baertling, Bader Alhaddad, Annette Seibt, Sonja Budaeus, Thomas Meitinger, Tim M Strom, Ertan Mayatepek, Jörg Schaper, Holger Prokisch, Tobias B Haack, Felix Distelmaier
VARS2 encodes a mitochondrial aminoacyl-tRNA-synthetase. Mutations in VARS2 have recently been identified as a cause of mitochondrial encephalomyopathy in three individuals. However, clinical information remained scarce. Exome sequencing lead us to identify compound heterozygous pathogenic VARS2 variants in a boy presenting with severe lactic acidosis, hypertrophic cardiomyopathy, epilepsy, and abnormalities on brain imaging including hypoplasia of corpus callosum and cerebellum as well as a massive lactate peak on MR-spectroscopy...
August 8, 2016: Metabolic Brain Disease
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