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neonatal epilepsy

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https://www.readbyqxmd.com/read/28623069/neonatal-hypoglycemia-a-wide-range-of-electroclinical-manifestations-and-seizure-outcomes
#1
Ebru Arhan, Zeynep Öztürk, Ayşe Serdaroğlu, Kürşad Aydın, Tuğba Hirfanoğlu, Yılmaz Akbaş
PURPOSE: We examined the various types of epilepsy in children with neonatal hypoglycemia in order to define electroclinical and prognostic features of these patients. METHOD: We retrospectively reviewed the medical records of patients with a history of symptomatic neonatal hypoglycaemia who have been followed at Gazi University Hospital Pediatric Neurology Department between 2006 and 2015. Patients with perinatal asphyxia were excluded. Details of each patient's perinatal history, neurological outcome, epilepsy details, seizure outcome and EEG and brain MRI findings were reviewed...
June 1, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28619364/outcome-of-arterial-ischemic-stroke-in-children-with-heart-disease
#2
María Vázquez López, Pedro de Castro de Castro, Estibaliz Barredo Valderrama, Ma Concepción Miranda Herrero, Nuria Gil Villanueva, Andrés J Alcaraz Romero, Samuel I Pascual Pascual
Arterial ischemic strokes (AIS) are rare in childhood. Congenital and acquired heart diseases are one of the most important risk factors of AIS in children. OBJECTIVE: Study the outcome of children with heart disease that have suffered AIS and the factors that influence on prognosis. PATIENTS AND METHODS: We evaluated all children with heart disease who had suffered AIS between 2000 and 2014 in our hospital. RESULTS: Seventy-four children with heart disease suffered an arterial ischemic stroke...
June 1, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28605362/recording-eeg-in-freely-moving-neonatal-rats-using-a-novel-method
#3
Qing-Wei Huo, Sidra Tabassum, Afzal Ali Misrani, Cheng Long
EEG is a useful method to detect electrical activity in the brain. Moreover, it is a widely used diagnostic tool for various neurological conditions, such as epilepsy and neurodegenerative disorders. However, it is technically difficult to obtain EEG recordings in neonates as it requires specialized handling and great care. Here, we present a novel method to record EEG in neonatal rat pups (P8-P15). We designed a simple and reliable electrode using computer pin loci; it can be easily implanted into the skull of a rat pup to record high-quality EEG signals in the normal and epileptic brain...
May 29, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28602030/variable-expressivity-of-a-likely-pathogenic-variant-in-kcnq2-in-a-three-generation-pedigree-presenting-with-intellectual-disability-with-childhood-onset-seizures
#4
Stacy Hewson, Klajdi Puka, Saadet Mercimek-Mahmutoglu
KCNQ2 has been reported as a frequent cause of autosomal dominant benign familial neonatal seizures. De novo likely pathogenic variants in KCNQ2 have been described in neonatal or early infantile onset epileptic encephalopathy patients. Here, we report a three-generation family with six affected patients with a novel likely pathogenic variant (c.628C>T; p.Arg210Cys) in KCNQ2. Four family members, three adults and a child, presented with a childhood seizure onset with variability in the severity of seizures and response to treatment, intellectual disability (ID) as well as behavioral problems...
June 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28595534/a-review-of-levetiracetam-in-neonates
#5
Amit Agrawal, Anita Banergee
BACKGROUND: Neonatal seizures are the most common clinical manifestation of central nervous system (CNS) dysfunction and are associated with various neurological sequelae. There are currently no evidence-based guidelines for the management of neonatal seizures and currently used drugs such as phenobarbital, and phenytoin have limited efficacy and potential toxicities. Newer second line anticonvulsant, levetiracetam, has been used in refractory neonatal seizures despite limited data and off-label use...
June 6, 2017: Current Drug Metabolism
https://www.readbyqxmd.com/read/28593892/neonatal-hypoglycemia-risk-factors-and-outcomes
#6
Orhideja Stomnaroska, Elizabeta Petkovska, Snezana Jancevska, Dragan Danilovski
BACKGROUND AND AIMS: Severe neonatal hypoglycemia (HG) leads to neurologic damage, mental retardation, epilepsy, personality disorders, impaired cardiac performance and muscle weakness. We aimed to assess the clinical characteristics of children with hypoglycemia in a random population of newborns. PATIENTS, METHODS AND RESULTS: We investigated 84 patients (M:F=35:48) born at the University Clinic for Gynecology and Obstetrics in Skopje (hospitalized in the NICU) who were found to have hypoglycemia...
March 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/28591672/global-variation-in-pregnancy-complications-in-women-with-epilepsy-a-meta-analysis
#7
John Allotey, David Aroyo-Manzano, Patricia Lopez, Luz Viale, Javier Zamora, Shakila Thangaratinam
OBJECTIVE: Women with epilepsy are at risk of pregnancy complications. Whether these vary globally is unknown. We undertook a systematic review to assess the overall rates of obstetric outcomes in women with epilepsy, and variations in estimates across geographical region, economic status of country, and over time. STUDY DESIGN: We searched Medline, Embase, Cochrane, AMED and CINAHL, (January 1, 1990 and November 29, 2016), without any language restrictions for studies reporting core maternal and fetal outcomes in women with epilepsy...
May 30, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28575529/abnormal-%C3%AE-aminobutyric-acid-neurotransmission-in-a-kcnq2-model-of-early-onset-epilepsy
#8
Taku Uchida, Christoph Lossin, Yukiko Ihara, Masanobu Deshimaru, Yuchio Yanagawa, Susumu Koyama, Shinichi Hirose
OBJECTIVE: Mutations of the KCNQ2 gene, which encodes the Kv 7.2 subunit of voltage-gated M-type potassium channels, have been associated with epilepsy in the neonatal period. This developmental stage is unique in that the neurotransmitter gamma aminobutyric acid (GABA), which is inhibitory in adults, triggers excitatory action due to a reversed chloride gradient. METHODS: To examine whether KCNQ2-related neuronal hyperexcitability involves neonatally excitatory GABA, we examined 1-week-old knockin mice expressing the Kv 7...
June 2, 2017: Epilepsia
https://www.readbyqxmd.com/read/28566956/intelligence-functioning-and-related-factors-in-children-with-cerebral-palsy
#9
Gözde Türkoğlu, Serhat Türkoğlu, Canan Çelik, Halil Uçan
INTRODUCTION: Cerebral palsy (CP) is the most common significant motor impairment in childhood. CP is defined as a primary disorder of posture and movement; however, intellectual impairment is prevalent in children with CP. The purpose of this study was to examine the intelligence level associated with gross motor function and hand function, type of CP, the presence of comorbid disorders such as epilepsy, and other factors. METHODS: In total, 107 children with CP were included...
March 2017: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28553390/a-neonate-with-x-linked-lissencephaly-with-ambiguous-genitalia
#10
Priyanka Minocha, Anita Choudhary, Shambhavi, Sadasivan Sitaraman
X-linked lissencephaly with ambiguous genitalia is a rare and recently described syndrome. We report a neonate presenting with the classical features of the syndrome which includes lissencephaly, agenesis of the corpus callosum, intractable epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. The baby was managed aggressively with antiepileptics. Early clinical suspicion of the syndrome can prevent future such occurrences in the family through genetic counseling.
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28553377/sporadic-hyperekplexia-plus-syndrome
#11
Sadanandavalli Retnaswami Chandra, Chetan Vekhande, Lakshminarayanapuram Gopal Viswanathan, Pooja Mailankody, Karru Venkata Ravi Teja
A disorder of infants and children with pathological startle response, features of other system involvement, falls, and stiffness with retained consciousness. It should be differentiated from conditions such as myoclonic epilepsy, psychogenic movement disorder, Isaac syndrome, Schwartz-Jampel syndrome, Gilles de la Tourette, and culture-specific startle syndromes such as jumping Frenchman of Maine. A 5-year-old child symptomatic with repeated falls spontaneously as well as by sound and activities since neonatal period...
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28543284/in-utero-oxcarbazepine-exposure-and-neonatal-abstinence-syndrome-case-report-and-brief-review-of-the-literature
#12
Chao-Yang Chen, Xing Li, Ling-Yue Ma, Peng-Hui Wu, Ying Zhou, Qi Feng, Yi-Min Cui
Oxcarbazepine is a second-generation antiepileptic drug that is used to treat partial seizures. Although it has been increasingly used in pregnant women, its fetal safety has not been fully validated. We describe a 12-hour-old neonate who developed neonatal abstinence syndrome (NAS) following intrauterine exposure to oxcarbazepine. The neonate was born by cesarean section to a mother who took oxcarbazepine 300 mg/day for treatment of seizures throughout her pregnancy. Approximately 12 hours after birth, the infant developed paroxysmal jitter, which mainly presented as increased excitability, irritability, limb shaking, and increased muscle tone...
May 20, 2017: Pharmacotherapy
https://www.readbyqxmd.com/read/28506426/heterogeneity-of-fhf1-related-phenotype-novel-case-with-early-onset-severe-attacks-of-apnea-partial-mitochondrial-respiratory-chain-complex-ii-deficiency-neonatal-onset-seizures-without-neurodegeneration
#13
Nathalie Villeneuve, Affef Abidi, Pierre Cacciagli, Cécile Mignon-Ravix, Brigitte Chabrol, Laurent Villard, Mathieu Milh
INTRODUCTION/OBJECTIVES: We report the case of a child prospectively followed in our institution for a severe, neonatal onset epilepsy presenting with severe attacks of apnea that were not initially recognized as seizure since they were not associated with any abnormal movement and since interictal EEG was normal. Recording of attacks using prolonged video-EEG recording allowed to confirm the diagnosis of epileptic seizures. RESULTS: Using whole exome sequencing we found a de novo heterozygous, missense mutation of FHF1 (p...
April 29, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28503627/two-novel-kcnq2-mutations-in-2-families-with-benign-familial-neonatal-convulsions
#14
Ghalia Al Yazidi, Michael I Shevell, Myriam Srour
Benign familial neonatal convulsion is a rare autosomal dominant inherited epilepsy syndrome characterized by unprovoked seizures in the first few days of life, normal psychomotor development, and a positive intergenerational family history of neonatal seizures. Over 90% of the affected individuals have inherited causal mutations in KCNQ2, which encodes for the potassium voltage-gated channel subfamily Q, member 2. Mutations in KCNQ2 are also associated with a severe neonatal encephalopathy phenotype associated with poor seizure control and neurodevelopmental deficits...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/28498410/neuropeptide-y-suppresses-epileptiform-discharges-by-regulating-ampa-receptor-glur2-subunit-in-rat-hippocampal-neurons
#15
Wei Bu, Wen-Qing Zhao, Wen-Ling Li, Chang-Zheng Dong, Zhe Zhang, Qi-Jun Li
The present study aimed to investigate the effects of neuropeptide Y (NPY) on the α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor glutamate receptor 2 (GluR2) subunit in epileptiform discharge hippocampal neurons. Hippocampal neurons were harvested from neonatal Sprague‑Dawley rats aged <24 h and primarily cultured in vitro. At day 12 following culture, hippocampal neurons were divided into the following groups: Control, Mg2+‑free, NPY+Mg2+‑free and BIBP3226+NPY+Mg2+‑free...
July 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28489313/in-utero-seizures-revealing-dentato-olivary-dysplasia-caused-by-scn2a-mutation
#16
Fanny Sauvestre, Sébastien Moutton, Catherine Badens, Bernard Broussin, Dominique Carles, Nada Houcinat, Caroline Lacoste, Florent Marguet, Christophe Pecheux, Laurent Villard, Fanny Pelluard, Annie Laquerrière, Gwenaëlle André
Most early-onset epileptic encephalopathies (EOEE) are caused by genetic defects. In the past, mutations, especially in genes encoding sodium channels, have been identified using linkage studies, array-CGH and more recently next-generation sequencing (NGS) [1]. Mutations in SCN2A gene have been identified in a wide variety of early-onset epileptic syndromes including benign familial neonatal infantile seizures (BFNIS) [2] and more severe forms leading to encephalopathy such as Ohtahara or West syndromes [3], epilepsy of infancy with migrating focal seizures (EIMFS) [4] and autism spectrum disorders [5]...
May 10, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28486943/kb-r7943-reduces-4-aminopyridine-induced-epileptiform-activity-in-adult-rats-after-neuronal-damage-induced-by-neonatal-monosodium-glutamate-treatment
#17
Mariana Hernandez-Ojeda, Monica E Ureña-Guerrero, Paola E Gutierrez-Barajas, Jazmin A Cardenas-Castillo, Antoni Camins, Carlos Beas-Zarate
BACKGROUND: Neonatal monosodium glutamate (MSG) treatment triggers excitotoxicity and induces a degenerative process that affects several brain regions in a way that could lead to epileptogenesis. Na(+)/Ca(2+) exchangers (NCX1-3) are implicated in Ca(2+) brain homeostasis; normally, they extrude Ca(2+) to control cell inflammation, but after damage and in epilepsy, they introduce Ca(2+) by acting in the reverse mode, amplifying the damage. Changes in NCX3 expression in the hippocampus have been reported immediately after neonatal MSG treatment...
May 9, 2017: Journal of Biomedical Science
https://www.readbyqxmd.com/read/28482742/neurodevelopmental-outcomes-in-22-children-with-microcephaly-of-different-etiologies
#18
Eliza Gordon-Lipkin, Maura Blakemore Gentner, Rebecca German, Mary L Leppert
We examined longitudinal neurodevelopmental outcomes in a series of infants with microcephaly. Retrospective review identified neonatal intensive care unit follow-up clinic patients with a diagnostic code of microcephaly, verified by head circumference less than the fifth precentile (WHO growth curves). Data were collected regarding clinical history and developmental assessments by Capute Scales and gross motor age equivalent. Developmental Quotient (DQ) was age adjusted up until 2 years for preterm infants...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28480665/dend-syndrome-with-heterozygous-kcnj11-mutation-successfully-treated-with-sulfonylurea
#19
Ja Hyang Cho, Eungu Kang, Beom Hee Lee, Gu Hwan Kim, Jin Ho Choi, Han Wook Yoo
Permanent neonatal diabetes mellitus (PNDM) is caused by mutations in the ATP-sensitive potassium channel (KATP channel) subunits. Developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome is the most severe form of PNDM and is characterized by various neurologic features. We report on a patient with DEND syndrome following initial misdiagnosis with type 1 DM, who was successfully switched from insulin to sulfonylurea therapy. A 50-day-old male presented with fever and seizure, complicated by persistent hyperglycemia...
June 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28477417/neuropsychological-impairments-in-children-with-kcnj11-neonatal-diabetes
#20
P Bowman, A T Hattersley, B A Knight, E Broadbridge, L Pettit, M Reville, S E Flanagan, M H Shepherd, T J Ford, J Tonks
We support the findings of Carmody et al. [1], who offered new insights into the neurological phenotype of people with KCNJ11 neonatal diabetes. Neurological features result from the KATP channel affected by these mutations being expressed in the brain as well as the pancreas [2]. Previous work has characterized developmental delay associated with specific mutations, for example, V59M, known as developmental delay, epilepsy and neonatal diabetes (DEND) syndrome [3,4]. Affected individuals also have impaired visuo-motor performance [5] and psychiatric (predominantly neurodevelopmental) disorders [6]...
May 6, 2017: Diabetic Medicine: a Journal of the British Diabetic Association
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