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https://www.readbyqxmd.com/read/28943513/neonatal-diabetes-two-cases-with-isolated-pancreas-agenensis-due-to-homozygous-ptf1a-enhancer-mutations-and-one-with-dend-syndrome-due-to-kcnj11-mutation
#1
Olcay Evliyaoğlu, Oya Ercan, Emel Ataloğlu, Ümit Zübarioğlu, Bahar Özcabı, Aydilek Dağdeviren, Hande Erdoğan, Elisa De Franco, Sian Ellard
Neonatal diabetes mellitus is a rare form of monogenic diabetes which is diagnosed in the first 6 months of life. Here we report three patients with neonatal diabetes; two with isolated pancreas agenesis due to mutations in the PTF1A enhancer and one with DEND syndrome (developmental delay, epilepsy, and neonatal diabetes) due to a KCNJ11 mutation. The two cases with mutations in the distal enhacer of PTF1A had a homozygous g.23508363A>G and a homozygous g.23508437A>G mutation respectively. Previous functional analysis showed that these mutations can decrease expression of PTF1A which is involved in pancreas development...
September 25, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28926830/a-distinctive-ictal-amplitude-integrated-electroencephalography-pattern-in-newborns-with-neonatal-epilepsy-associated-with-kcnq2-mutations
#2
Ana Vilan, José Mendes Ribeiro, Pasquale Striano, Sarah Weckhuysen, Lauren C Weeke, Eva Brilstra, Linda S de Vries, Maria Roberta Cilio
BACKGROUND: Recurrent and prolonged seizures are harmful for the developing brain, emphasizing the importance of early seizure recognition and effective therapy. Amplitude-integrated electroencephalography (aEEG) has become a valuable tool to diagnose epileptic seizures, and, in parallel, genetic etiologies are increasingly being recognized, changing the paradigm of the workup and management of neonatal seizures. OBJECTIVE: To report the ictal aEEG pattern in neonates with KCNQ2-related epilepsy...
September 20, 2017: Neonatology
https://www.readbyqxmd.com/read/28910997/paediatric-nuclear-medicine-imaging
#3
Lorenzo Biassoni, Marina Easty
Background: Nuclear medicine imaging explores tissue viability and function by using radiotracers that are taken up at cellular level with different mechanism. This imaging technique can also be used to assess blood flow and transit through tubular organs. Nuclear medicine imaging has been used in paediatrics for decades and this field is continuously evolving. Sources of data: The data presented comes from clinical experience and some milestone papers on the subject...
September 1, 2017: British Medical Bulletin
https://www.readbyqxmd.com/read/28878622/ganaxolone-a-new-treatment-for-neonatal-seizures
#4
REVIEW
Tamara Yawno, Suzie L Miller, Laura Bennet, Flora Wong, Jonathan J Hirst, Michael Fahey, David W Walker
Neonatal seizures are amongst the most common neurologic conditions managed by a neonatal care service. Seizures can exacerbate existing brain injury, induce "de novo" injury, and are associated with neurodevelopmental disabilities in post-neonatal life. In this mini-review, we present evidence in support of the use of ganaxolone, a GABA(A) agonist neurosteroid, as a novel neonatal therapy. We discuss evidence that ganaxolone can provide both seizure control and neuroprotection with a high safety profile when administered early following birth-related hypoxia, and show evidence that it is likely to prevent or reduce the incidence of the enduring disabilities associated with preterm birth, cerebral palsy, and epilepsy...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28867039/-long-term-outcome-of-perinatal-stroke
#5
C Vuillerot, S Marret, M Dinomais
Neonatal Arterial Ischemic Stroke (NAIS) affects 6-17 newborns on 100 000-birth term neonates, most of these children keeping long-term motor and cognitive impairments. Based on a literature review, the objectives of this paper are to describe motor and cognitive outcomes after a NAIS and to propose a consensual monitoring of these children to improve their management. About 30 % of children after a NAIS will develop a unilateral cerebral palsy requiring a management by a team with expertise in physical medicine and rehabilitation...
September 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28844439/comorbidities-and-risk-factors-associated-with-newly-diagnosed-epilepsy-in-the-u-s-pediatric-population
#6
Ahyuda Oh, David J Thurman, Hyunmi Kim
Neurobehavioral comorbidities can be related to underlying etiology of epilepsy, epilepsy itself, and adverse effects of antiepileptic drugs. We examined the relationship between neurobehavioral comorbidities and putative risk factors for epilepsy in children with newly diagnosed epilepsy. We conducted a retrospective analysis of children aged ≤18years in 50 states and the District of Columbia, using the Truven Health MarketScan® commercial claims and encounters database from January 1, 2009 to December 31, 2013...
August 22, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28843469/a-genotype-first-approach-for-clinical-and-genetic-evaluation-of-wolcott-rallison-syndrome-in-a-large-cohort-of-iranian-patients-with-neonatal-diabetes
#7
Farzaneh Abbasi, Maryam Habibi, Samaneh Enayati, Fatemeh Bitarafan, Maryam Razzaghy-Azar, Aria Sotodeh, Sima Parvizi Omran, Reza Maroofian, Mahsa M Amoli
OBJECTIVE: Wolcott-Rallison syndrome (WRS) is an extremely rare autosomal recessive condition, characterized by permanent neonatal diabetes mellitus (PNDM) associated with skeletal dysplasia, growth retardation and liver dysfunction. WRS is caused by biallelic mutations in the gene encoding eukaryotic translation initiation factor 2alpha kinase 3 (EIF2AK3). METHODS: As part of a comprehensive study on clinical and genetic investigation of neonatal diabetes in an Iranian population, 60 unrelated Iranian subjects referred with PNDM were analyzed...
August 23, 2017: Canadian Journal of Diabetes
https://www.readbyqxmd.com/read/28818555/pyridoxine-5-phosphate-oxidase-pnpo-deficiency-clinical-and-biochemical-alterations-associated-with-the-c-347g-a-p-%C3%A2-arg116gln-mutation
#8
Martino L di Salvo, Mario Mastrangelo, Isabel Nogués, Manuela Tolve, Alessandro Paiardini, Carla Carducci, Davide Mei, Martino Montomoli, Angela Tramonti, Renzo Guerrini, Roberto Contestabile, Vincenzo Leuzzi
BACKGROUND: Pyridoxal-5(')-phosphate oxidase (PNPO) deficiency presents as a severe neonatal encephalopathy responsive to pyridoxal-5(')-phosphate (PLP) or pyridoxine. Recent studies widened the phenotype of this condition and detected genetic variants on PNPO gene whose pathogenic role and clinical expression remain to be established. OBJECTIVE: This paper aims to characterize the functional effects of the c.347G>A (p.Arg116Gln) mutation in the PNPO gene in order to define its pathogenicity and describe the clinical features of new patients with epilepsy carrying this mutation...
September 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28739361/gender-affects-long-term-neurological%C3%A2-outcome-of-neonates
#9
Amir Freud, Eyal Sheiner, Tamar Wainstock, Daniella Landau, Asnat Walfisch
OBJECTIVE: We evaluated the possible association between fetal gender and long-term pediatric neurological morbidity. METHODS: We performed a population-based retrospective cohort analysis comparing the risk of long-term neurological morbidity (up to age 18 years) of children born during the years 1991 to 2013 according to their gender. Neurological morbidity evaluated included hospitalizations in childhood involving pervasive developmental disorder, obstructive sleep apnea, cerebral palsy, epilepsy, and infantile spasms and disorders of eating as recorded in the hospital files...
September 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28733343/profile-of-neonatal-epilepsies-characteristics-of-a-prospective-us-cohort
#10
MULTICENTER STUDY
Renée A Shellhaas, Courtney J Wusthoff, Tammy N Tsuchida, Hannah C Glass, Catherine J Chu, Shavonne L Massey, Janet S Soul, Natrujee Wiwattanadittakun, Nicholas S Abend, Maria Roberta Cilio
OBJECTIVE: Although individual neonatal epilepsy syndromes are rare, as a group they represent a sizable subgroup of neonatal seizure etiologies. We evaluated the profile of neonatal epilepsies in a prospective cohort of newborns with seizures. METHODS: Consecutive newborns with seizures were enrolled in the Neonatal Seizure Registry (an association of 7 US children's hospitals). Treatment and diagnostic testing were at the clinicians' discretion. Neonates with seizures related to epileptic encephalopathies (without structural brain abnormalities), brain malformations, or benign familial epilepsies were included in this analysis...
August 29, 2017: Neurology
https://www.readbyqxmd.com/read/28733342/early-genetic-testing-for-neonatal-epilepsy-when-why-and-how
#11
EDITORIAL
Edward J Novotny
No abstract text is available yet for this article.
July 21, 2017: Neurology
https://www.readbyqxmd.com/read/28728838/kcnq2-encephalopathy-a-case-due-to-a-de-novo-deletion
#12
Carlotta Spagnoli, Grazia Gabriella Salerno, Alessandro Iodice, Daniele Frattini, Francesco Pisani, Carlo Fusco
KCNQ2 encephalopathy is characterized by severely abnormal EEG, neonatal-onset epilepsy and developmental delay. It is caused by mutations (typically missense) in the KCNQ2 gene, encoding the voltage gated potassium channel Kv7.2 and leading to a negative-dominant effect. We present one case experiencing recurrent neonatal seizures with changing hemispheres of origin, reminiscent of epilepsy of infancy with migrating focal seizures. At 9months of age the patient is still seizure-free on carbamazepine, although he is developing a spastic-dystonic tetraplegia with severe dysphagia...
July 17, 2017: Brain & Development
https://www.readbyqxmd.com/read/28711742/microcephaly-with-simplified-gyral-pattern-epilepsy-and-permanent-neonatal-diabetes-syndrome-meds-a-new-patient-and-review-of-the-literature
#13
Irene Valenzuela, Susana Boronat, Elena Martínez-Sáez, María Clemente, Ángel Sánchez-Montañez, Francina Munell, Antonio Carrascosa, Alfons Macaya
Microcephaly with simplified gyration, epilepsy and permanent neonatal diabetes syndrome (MEDS) is a recently described, autosomal recessive-inherited syndrome. We report the case of an infant presenting with lethargy at age five weeks and clinical findings of persistent hyperglycaemia and microcephaly with simplified gyration, suggestive of MEDS. The diagnosis was confirmed by the detection of a known c.233 T > C mutation in the IER3IP1 gene. Only eight cases of MEDS have been reported in the literature...
October 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28698725/plasma-pyridoxal-5%C3%A1-phosphate-level-in-children-with-intractable-and-controlled-epilepsy
#14
Zahra Pirzadeh, Mohammad Ghofrani, Mohsen Mollamohammadi
OBJECTIVE: Intractable epilepsy is a serious neurologic problem with different etiologies. Decreased levels of pyridoxal phosphate in cerebral spinal fluid of patients with intractable epilepsy due to pyridoxine dependency epilepsy are reported. The aim of this study was to compare plasma pyridoxal 5´-phosphate level in patients with intractable and controlled epilepsy. MATERIALS & METHODS: This cross- sectional analytic study included 66 epileptic children, 33 patients with controlled and 33 patients with intractable epilepsy, after neonatal period up to 15 yr old of age...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28691158/anticonvulsant-effect-of-cannabinoid-receptor-agonists-in-models-of-seizures-in-developing-rats
#15
Megan N Huizenga, Evan Wicker, Veronica C Beck, Patrick A Forcelli
OBJECTIVE: Although drugs targeting the cannabinoid system (e.g., CB1 receptor agonists) display anticonvulsant efficacy in adult animal models of seizures/epilepsy, they remain unexplored in developing animal models. However, cannabinoid system functions emerge early in development, providing a rationale for targeting this system in neonates. We examined the therapeutic potential of drugs targeting the cannabinoid system in three seizure models in developing rats. METHODS: Postnatal day (P) 10, Sprague-Dawley rat pups were challenged with the chemoconvulsant methyl-6,7-dimethoxy-4-ethyl-beta-carboline-3-carboxylate (DMCM) or pentylenetetrazole (PTZ), after treatment with either CB1/2 mixed agonist (WIN 55,212-2), CB1 agonist (arachidonyl-2'-chloroethylamide [ACEA]), CB2 agonist (HU-308), CB1 antagonist (AM-251), CB2 antagonist (AM-630), fatty acid amide hydrolase inhibitor (URB-597), or G protein-coupled receptor 55 agonist (O-1602)...
September 2017: Epilepsia
https://www.readbyqxmd.com/read/28687180/a-patient-with-early-myoclonic-encephalopathy-eme-with-a-de-novo-kcnq2-mutation
#16
Karin Kojima, Kentaro Shirai, Mizuki Kobayashi, Akihiko Miyauchi, Hirotomo Saitsu, Naomichi Matsumoto, Hitoshi Osaka, Takanori Yamagata
BACKGROUND: The potassium voltage-gated channel subfamily Q member 2 (KCNQ2) gene has been reported to be associated with various types of epilepsy, including benign familial neonatal seizure (BFNS), early infantile epileptic encephalopathy (EIEE), and unclassified early onset encephalopathies. We herein report a patient with early myoclonic encephalopathy (EME) caused by a KCNQ2 mutation. CASE REPORT: A male infant started to exhibit erratic myoclonus several days after birth and apnea attacks lasting for seconds with desaturation...
July 4, 2017: Brain & Development
https://www.readbyqxmd.com/read/28686619/rare-variants-of-small-effect-size-in-neuronal-excitability-genes-influence-clinical-outcome-in-japanese-cases-of-scn1a-truncation-positive-dravet-syndrome
#17
Michael F Hammer, Atsushi Ishii, Laurel Johnstone, Alexander Tchourbanov, Branden Lau, Ryan Sprissler, Brian Hallmark, Miao Zhang, Jin Zhou, Joseph Watkins, Shinichi Hirose
Dravet syndrome (DS) is a rare, devastating form of childhood epilepsy that is often associated with mutations in the voltage-gated sodium channel gene, SCN1A. There is considerable variability in expressivity within families, as well as among individuals carrying the same primary mutation, suggesting that clinical outcome is modulated by variants at other genes. To identify modifier gene variants that contribute to clinical outcome, we sequenced the exomes of 22 individuals at both ends of a phenotype distribution (i...
2017: PloS One
https://www.readbyqxmd.com/read/28675557/neurobehavioral-comorbidities-of-epilepsy-role-of-inflammation
#18
REVIEW
Andrey M Mazarati, Megan L Lewis, Quentin J Pittman
Epilepsy is associated with a high incidence of comorbid neurologic and psychiatric disorders. This review focuses on the association of epilepsy with autism spectrum disorder (ASD) and depression. There is high concordance of these behavioral pathologies with epilepsy. We review data that unambiguously reveal that epilepsy, ASD, and depression are associated with elevated brain inflammatory markers and that these may interact with serotoninergic pathways. Interference with inflammatory pathways or actions can reduce the severity of seizures, depression, and ASD-like behavior...
July 2017: Epilepsia
https://www.readbyqxmd.com/read/28673551/analyses-of-slc13a5-epilepsy-patients-reveal-perturbations-of-tca-cycle
#19
Matthew N Bainbridge, Erin Cooney, Marcus Miller, Adam D Kennedy, Jacob E Wulff, Taraka Donti, Shalini N Jhangiani, Richard A Gibbs, Sarah H Elsea, Brenda E Porter, Brett H Graham
OBJECTIVE: To interrogate the metabolic profile of five subjects from three families with rare, nonsense and missense mutations in SLC13A5 and Early Infantile Epileptic Encephalopathies (EIEE) characterized by severe, neonatal onset seizures, psychomotor retardation and global developmental delay. METHODS: Mass spectrometry of plasma, CSF and urine was used to identify consistently dysregulated analytes in our subjects. RESULTS: Distinctive elevations of citrate and dysregulation of citric acid cycle intermediates, supporting the hypothesis that loss of SLC13A5 function alters tricarboxylic acid cycle (TCA) metabolism and may disrupt metabolic compartmentation in the brain...
August 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28672292/association-between-pregnancy-and-perinatal-outcomes-among-women-with-epilepsy
#20
Neda Razaz, Torbjörn Tomson, Anna-Karin Wikström, Sven Cnattingius
Importance: To date, few attempts have been made to examine associations between exposure to maternal epilepsy with or without antiepileptic drug (AED) therapy and pregnancy and perinatal outcomes. Objectives: To investigate associations between epilepsy in pregnancy and risks of pregnancy and perinatal outcomes as well as whether use of AEDs influenced risks. Design, Setting, and Participants: A population-based cohort study was conducted on all singleton births at 22 or more completed gestational weeks in Sweden from 1997 through 2011; of these, 1 424 279 were included in the sample...
August 1, 2017: JAMA Neurology
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