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https://www.readbyqxmd.com/read/29303605/neonatal-hypoglycemia-early-onset-diabetes-and-hypopituitarism-due-to-the-mutation-in-eif2s3-gene-causing-mehmo-syndrome
#1
J Stanik, M Skopkova, D Stanikova, K Brennerova, L Barak, L Ticha, J Hornova, I Klimes, D Gasperikova
Recently, the genetic cause of several syndromic forms of glycemia dysregulation has been described. One of them, MEHMO syndrome, is a rare X-linked syndrome recently linked to the EIF2S3 gene mutations. MEHMO is characterized by Mental retardation, Epilepsy, Hypogonadism/hypogenitalism, Microcephaly, and Obesity. Moreover, patients with MEHMO had also diabetes and endocrine phenotype, but detailed information is missing. We aimed to provide more details on the endocrine phenotype in two previously reported male probands with MEHMO carrying a frame-shift mutation (I465fs) in the EIF2S3 gene...
January 5, 2018: Physiological Research
https://www.readbyqxmd.com/read/29295802/hydrocephalus-in-pyridoxine-dependent-epilepsy-new-case-and-literature-review
#2
Virginia Navarro-Abia, María Soriano-Ramos, Noemí Núñez-Enamorado, Ana Camacho-Salas, Ana Martinez-de Aragón, Elena Martín-Hernández, Rogelio Simón-de Las Heras
INTRODUCTION: Pyridoxine-dependent epilepsy (PDE) is a rare disorder of the lysine metabolism, characterized by a pharmacoresistant epileptic encephalopathy that usually begins in the neonatal period. However, its phenotypic spectrum is wide and not limited to seizures. We report a new case of PDE who developed hydrocephalus, along with an exhaustive review of the literature. CASE REPORT: Our patient presented with seizures at 13 h of life. Antiepileptic drugs, vitamins and cofactors were required to achieve seizure control...
December 30, 2017: Brain & Development
https://www.readbyqxmd.com/read/29284168/congenital-neuronal-ceroid-lipofuscinosis-with-a-novel-ctsd-gene-mutation-a-rare-cause-of-neonatal-onset-neurodegenerative-disorder
#3
K Varvagiannis, S Hanquinet, M H Billieux, R De Luca, P Rimensberger, M Lidgren, M Guipponi, P Makrythanasis, J L Blouin, S E Antonarakis, R Steinfeld, I Kern, A Poretti, J Fluss, S Fokstuen
Neuronal ceroid lipofuscinoses represent a heterogeneous group of early onset neurodegenerative disorders that are characterized by progressive cognitive and motor function decline, visual loss, and epilepsy. The age of onset has been historically used for the phenotypic classification of this group of disorders, but their molecular genetic delineation has now enabled a better characterization, demonstrating significant genetic heterogeneity even among individuals with a similar phenotype. The rare Congenital Neuronal Ceroid Lipofuscinosis (CLN10) caused by mutations in the CTSD gene encoding for cathepsin D is associated with a dramatic presentation with onset before or around birth...
December 28, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/29260614/neuroimaging-findings-in-pallister-killian-syndrome
#4
Emil Jernstedt Barkovich, Tarannum Musvee Lateef, Matthew T Whitehead
Pallister-Killian syndrome (PKS) is a rare chromosomal duplication disorder caused by additional copies of the short arm of chromosome 12 (12p). Clinically PKS is characterized by craniofacial dysmorphism with neonatal frontotemporal alopecia, hypertelorism, and low-set ears as well as kyphoscoliosis, severe intellectual disability, epilepsy, and abnormal muscle tone. Comprehensive high-resolution brain MR findings of PKS in childhood have not been previously illustrated in the medical literature. We present detailed neuroimaging findings from a child with PKS and thoroughly review previously reported structural brain abnormalities in this patient population...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/29237403/isolated-and-repeated-stroke-like-episodes-in-a-middle-aged-man-with-a-mitochondrial-nd3-t10158c-mutation-a-case-report
#5
Satomi Mezuki, Kenji Fukuda, Tomonaga Matsushita, Yoshihisa Fukushima, Ryu Matsuo, Yu-Ichi Goto, Takehiro Yasukawa, Takeshi Uchiumi, Dongchon Kang, Takanari Kitazono, Tetsuro Ago
BACKGROUND: Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, is the most common phenotype of mitochondrial disease. It often develops in childhood or adolescence, usually before the age of 40, in a maternally-inherited manner. Mutations in mitochondrial DNA (mtDNA) are frequently responsible for MELAS. CASE PRESENTATION: A 55-year-old man, who had no family or past history of mitochondrial disorders, suddenly developed bilateral visual field constriction and repeated stroke-like episodes...
December 13, 2017: BMC Neurology
https://www.readbyqxmd.com/read/29229361/a-literature-review-on-maternal-fetal-and-reproductive-disorders-of-toxoplasma-gondii-infection
#6
REVIEW
Shirzad Fallahi, Ali Rostami, Malihe Nourollahpour Shiadeh, Hamed Behniafar, Shahrokh Paktinat
BACKGROUND: Toxoplasma gondii infection is one of the most prevalent infectious disease with worldwide distribution. Congenital toxoplasmosis is annually responsible for 1.20 million disability-adjusted life years around the world, but often it is overlooked many countries. METHODS: We performed an updated review to summarize the current researches on fetal, neonatal and maternal consequences of T. gondii infection and also adverse effects of toxoplasmosis on women reproductive organs...
December 8, 2017: Journal of Gynecology Obstetrics and Human Reproduction
https://www.readbyqxmd.com/read/29227795/divergent-effects-of-levetiracetam-and-tiagabine-against-spontaneous-seizures-in-adult-rats-following-neonatal-hypoxia
#7
Raymond Dunn, Bridget N Queenan, Daniel T S Pak, Patrick A Forcelli
Animal models are valuable tools for screening novel therapies for patients who suffer from epilepsy. However, a wide array of models are necessary to cover the diversity of human epilepsies. In humans, neonatal hypoxia (or hypoxia-ischemia) is one of the most common causes of epilepsy early in life. Hypoxia-induced seizures (HS) during the neonatal period can also lead to spontaneous seizures in adulthood. This phenomenon, i.e., early-life hypoxia leading to adult epilepsy - is also seen in experimental models, including rats...
December 5, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29222398/cerebral-palsy-in-extremely-preterm-infants
#8
Maria Hafström, Karin Källén, Fredrik Serenius, Karel Maršál, Eva Rehn, Helen Drake, Ulrika Ådén, Aijaz Farooqi, Kristina Thorngren-Jerneck, Bo Strömberg
BACKGROUND AND OBJECTIVES: The risk of cerebral palsy (CP) is high in preterm infants and is often accompanied by additional neurodevelopmental comorbidities. The present study describes lifetime prevalence of CP in a population-based prospective cohort of children born extremely preterm, including the type and severity of CP and other comorbidities (ie, developmental delay and/or cognitive impairment, neurobehavioral morbidity, epilepsy, vision and hearing impairments), and overall severity of disability...
December 8, 2017: Pediatrics
https://www.readbyqxmd.com/read/29215089/genetic-analysis-of-benign-familial-epilepsies-in-the-first-year-of-life-in-a-chinese-cohort
#9
Qi Zeng, Xiaoling Yang, Jing Zhang, Aijie Liu, Zhixian Yang, Xiaoyan Liu, Ye Wu, Xiru Wu, Liping Wei, Yuehua Zhang
Benign familial epilepsies that present themselves in the first year of life include benign familial neonatal epilepsy (BFNE), benign familial neonatal-infantile epilepsy (BFNIE) and benign familial infantile epilepsy (BFIE). We used Sanger sequencing and targeted next-generation sequencing to detect gene mutations in a Chinese cohort of patients with these three disorders. A total of 79 families were collected, including 4 BFNE, 7 BFNIE, and 68 BFIE. Genetic testing led to the identification of gene mutations in 60 families (60 out of 79, 75...
November 13, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29203264/identification-of-genes-regulating-gabaergic-interneuron-maturation
#10
Keita Fukumoto, Kota Tamada, Tsuyoshi Toya, Tasuku Nishino, Yuchio Yanagawa, Toru Takumi
During embryonic development, GABAergic interneurons, a main inhibitory component in the cerebral cortex, migrate tangentially from the ganglionic eminence (GE) to cerebral cortex. After reaching the cerebral cortex, they start to extend their neurites for constructing local neuronal circuits around the neonatal stage. Aberrations in migration or neurite outgrowth are implicated in neurological and psychiatric disorders such as epilepsy, schizophrenia and autism. Previous studies revealed that in the early phase of cortical development the neural population migrates tangentially from the GE in the telencephalon and several genes have been characterized as regulators of migration and specification of GABAergic interneurons...
December 1, 2017: Neuroscience Research
https://www.readbyqxmd.com/read/29173786/drug-treatment-of-seizures-and-epilepsy-in-newborns-and-children
#11
REVIEW
Louis T Dang, Faye S Silverstein
The mainstay of treatment of childhood epilepsy is to administer antiepileptic drugs (AEDs). This article provides an overview of the clinical approach to drug treatment of childhood epilepsy, focusing on general principles of therapy and properties of recently introduced medications. Initiation and cessation of therapy, adverse medication effects, drug interactions, indications for the various AEDs, and off-label use of AEDs are reviewed. The distinct challenges in treatment of epileptic spasms and neonatal seizures are addressed...
December 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29159461/severe-hyperammonemic-encephalopathy-requiring-dialysis-aggravated-by-prolonged-fasting-and-intermittent-high-fat-load-in-a-ramadan-fasting-month-in-a-patient-with-cptii-homozygous-mutation
#12
P Phowthongkum, C Ittiwut, V Shotelersuk
BACKGROUND: Carnitine palmitoyltransferase II (CPTII) deficiency is a mitochondrial fatty acid oxidation disorder that can present antenatally as congenital brain malformations, or postnatally with lethal neonatal, severe infantile, or the most common adult myopathic forms. No case of severe hyperammonemia without liver dysfunction has been reported. CASE PRESENTATION: We described a 23-year-old man who presented to the emergency department with seizures and was found to have markedly elevation of serum ammonia...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29150892/expanding-the-neurodevelopmental-phenotype-of-pura-syndrome
#13
Bo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, Emily Tuttle, Brynn Lape, Kelly Q Minks, Christopher Stodgell, Loisa Bennetto, Jennifer Kwon, Chin-To Fong, Karen W Gripp, Eric D Marsh, Wendy E Smith, Ahm M Huq, Stephanie A Coury, Wen-Hann Tan, Orestes Solis, Rupal I Mehta, Richard J Leventer, Diana Baralle, David Hunt, Alex R Paciorkowski
PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental delay, severe intellectual disability, and frequent apnea and epilepsy. We describe 18 new individuals with heterozygous sequence variations in PURA. A neuromotor disorder starting with neonatal hyptonia, but ultimately allowing delayed progression to walking, was present in nearly all individuals. Congenital apnea was present in 56% during infancy, but all cases in this cohort resolved during the first year of life...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29108421/neonatal-arterial-ischemic-stroke-risk-related-to-family-history-maternal-diseases-and-genetic-thrombophilia
#14
Juan Arnaez, Gemma Arca, Ana Martín-Ancel, Thais Agut, Alfredo Garcia-Alix
The objective of this study was to evaluate the heritability of neonatal arterial ischemic stroke (NAIS) in relation to family history of thromboembolic event, maternal diseases, and thrombophilia in both parents ( F5G1691A, F2G20210A, and MTHFRC677 T mutations). Forty-two consecutive infants ≥36 weeks of gestation <28 days of life with acute symptomatic NAIS and their parents, as well as 129 controls, were prospectively recruited. Information on maternal data (age, body mass index, oral contraception, migraine, epilepsy, hypertension, and immune disease) and a 3-generation pedigree regarding myocardial infarction, pulmonary embolism, cerebrovascular event, and deep vein thrombosis were obtained...
January 1, 2017: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/29097605/pura-syndrome-clinical-delineation-and-genotype-phenotype-study-in-32-individuals-with-review-of-published-literature
#15
Margot R F Reijnders, Robert Janowski, Mohsan Alvi, Jay E Self, Ton J van Essen, Maaike Vreeburg, Rob P W Rouhl, Servi J C Stevens, Alexander P A Stegmann, Jolanda Schieving, Rolph Pfundt, Katinke van Dijk, Eric Smeets, Connie T R M Stumpel, Levinus A Bok, Jan Maarten Cobben, Marc Engelen, Sahar Mansour, Margo Whiteford, Kate E Chandler, Sofia Douzgou, Nicola S Cooper, Ene-Choo Tan, Roger Foo, Angeline H M Lai, Julia Rankin, Andrew Green, Tuula Lönnqvist, Pirjo Isohanni, Shelley Williams, Ilene Ruhoy, Karen S Carvalho, James J Dowling, Dorit L Lev, Katalin Sterbova, Petra Lassuthova, Jana Neupauerová, Jeff L Waugh, Sotirios Keros, Jill Clayton-Smith, Sarah F Smithson, Han G Brunner, Ceciel van Hoeckel, Mel Anderson, Virginia E Clowes, Victoria Mok Siu, The Ddd Study, Paulo Selber, Richard J Leventer, Christoffer Nellaker, Dierk Niessing, David Hunt, Diana Baralle
BACKGROUND: De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia. OBJECTIVES: To delineate the clinical spectrum of PURA syndrome and study genotype-phenotype correlations. METHODS: Diagnostic or research-based exome or Sanger sequencing was performed in individuals with ID. We systematically collected clinical and mutation data on newly ascertained PURA syndrome individuals, evaluated data of previously reported individuals and performed a computational analysis of photographs...
November 2, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29097134/clinical-course-and-long-term-outcome-in-children-with-alteration-of-consciousness-underwent-continuous-eeg-monitoring-a-prospective-observational-study-in-thailand
#16
Thitiporn Fangsaad, Siriluk Assawabumrungkul, Anannit Visudtibhan
The study aims to explore the clinical course and long-term outcome in children with altered consciousness who underwent cEEG monitoring. A prospective observational study was conducted in neonatal and pediatric intensive care units from 1 September 2014 through 31 March 2017. Standard 10-20 cEEG monitoring was applied. Twenty children were included in this study. Their ages ranged from 1 day to 142.7 months (median age 40.6 months). Continuous EEG was commenced from 5 h to 5 days after the onset of alteration of consciousness (median 40...
October 30, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29061647/pyridoxine-dependent-epilepsy-in-zebrafish-caused-by-aldh7a1-deficiency
#17
Izabella A Pena, Yann Roussel, Kate Daniel, Kevin Mongeon, Devon Johnstone, Hellen Weinschutz Mendes, Marjolein Bosma, Vishal Saxena, Nathalie Lepage, Pranesh Chakraborty, David A Dyment, Clara D M van Karnebeek, Nanda Verhoeven-Duif, Tuan Vu Bui, Kym M Boycott, Marc Ekker, Alex MacKenzie
Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the lysine degradation gene ALDH7A1 leading to recurrent neonatal seizures which are uniquely alleviated by high doses of pyridoxine or pyridoxal 5'-phosphate (vitamin B6 vitamers). Despite treatment, neurodevelopmental disabilities are still observed in most PDE patients underlining the need for adjunct therapies. Over 60 years after the initial description of PDE, we report the first animal model for this disease: an aldh7a1-null zebrafish (Danio rerio) displaying deficient lysine metabolism and spontaneous and recurrent seizures in the larval stage (10 dpf)...
October 23, 2017: Genetics
https://www.readbyqxmd.com/read/29058186/methods-for-characterizing-disease-associated-atp-sensitive-potassium-channel-mutations
#18
Balamurugan Kandasamy, Show-Ling Shyng
The ATP-sensitive potassium (KATP) channel formed by the inwardly rectifying potassium channel Kir6.2 and the sulfonylurea receptor 1 (SUR1) plays a key role in regulating insulin secretion. Genetic mutations in KCNJ11 or ABCC8 which encode Kir6.2 and SUR1 respectively are major causes of insulin secretion disorders: those causing loss of channel function lead to congenital hyperinsulinism, whereas those causing gain of channel function result in neonatal diabetes and in some cases developmental delay, epilepsy, and neonatal diabetes, referred to as the DEND syndrome...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29054051/the-incidence-and-risk-factors-of-epilepsy-in-children-born-preterm-a-nationwide-register-study
#19
Mikko Hirvonen, Riitta Ojala, Päivi Korhonen, Paula Haataja, Kai Eriksson, Mika Gissler, Tiina Luukkaala, Outi Tammela
OBJECTIVES: The aim was to compare the incidence of epilepsy between very preterm (VP) (<32(+0) weeks), moderately preterm (MP) (32(+0)-33(+6) weeks), late preterm (LP) (34(+0)-36(+6) weeks) and term infants (≥37 weeks) and to establish and compare risk factors of epilepsy in these groups. METHODS: The national register study included all live born infants in Finland in 1991-2008. Excluding infants with missing gestational age, a total of 1,033,349 infants were included in the analysis and they were analyzed in four subgroups (VP, MP, LP and term) and three time periods (1991-1995, 1996-2001 and 2002-2008)...
October 14, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29053735/characterization-of-the-first-knock-out-aldh7a1-zebrafish-model-for-pyridoxine-dependent-epilepsy-using-crispr-cas9-technology
#20
Nikita Zabinyakov, Garrett Bullivant, Feng Cao, Matilde Fernandez Ojeda, Zheng Ping Jia, Xiao-Yan Wen, James J Dowling, Gajja S Salomons, Saadet Mercimek-Andrews
Pyridoxine dependent epilepsy (PDE) is caused by likely pathogenic variants in ALDH7A1 (PDE-ALDH7A1) and inherited autosomal recessively. Neurotoxic alpha-amino adipic semialdehyde (alpha-AASA), piperideine 6-carboxylate and pipecolic acid accumulate in body fluids. Neonatal or infantile onset seizures refractory to anti-epileptic medications are clinical features. Treatment with pyridoxine, arginine and lysine-restricted diet does not normalize neurodevelopmental outcome or accumulation of neurotoxic metabolites...
2017: PloS One
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