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https://www.readbyqxmd.com/read/28438223/extrastriatal-changes-in-patients-with-late-onset-glutaric-aciduria-type-i-highlight-the-risk-of-long-term-neurotoxicity
#1
Nikolas Boy, Jana Heringer, Renate Brackmann, Olaf Bodamer, Angelika Seitz, Stefan Kölker, Inga Harting
BACKGROUND: Without neonatal initiation of treatment, 80-90% of patients with glutaric aciduria type 1 (GA1) develop striatal injury during the first six years of life resulting in a complex, predominantly dystonic movement disorder. Onset of motor symptoms may be acute following encephalopathic crisis or insidious without apparent crisis. Additionally, so-called late-onset GA1 has been described in single patients diagnosed after the age of 6 years. With the aim of better characterizing and understanding late-onset GA1 we analyzed clinical findings, biochemical phenotype, and MRI changes of eight late-onset patients and compared these to eight control patients over the age of 6 years with early diagnosis and start of treatment...
April 24, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28434134/pregnancy-outcomes-following-in-utero-exposure-to-lamotrigine-a-systematic-review-and-meta-analysis
#2
REVIEW
Gali Pariente, Tom Leibson, Talya Shulman, Thomasin Adams-Webber, Eran Barzilay, Irena Nulman
INTRODUCTION: Lamotrigine is used in pregnancy to control epilepsy and mood disorders. The reproductive safety of this widely used drug remains undefined and may represent a significant public health concern. OBJECTIVE: We aimed to perform a systematic review and meta-analysis of existing knowledge related to malformation rates and maternal-neonatal outcomes after in utero exposure to monotherapy with lamotrigine. METHODS: Relevant studies were identified through systematic searches conducted in MEDLINE (Ovid), Embase (Ovid), CENTRAL (Ovid), and Web of Science (Thomson Reuters) from database inception to July 2016; no language or date restrictions were applied...
April 22, 2017: CNS Drugs
https://www.readbyqxmd.com/read/28429607/thalamic-hemorrhagic-stroke-in-the-term-newborn-a-specific-neonatal-syndrome-with-non-uniform-outcome
#3
Laura Merlini, Sylviane Hanquinet, Joel Fluss
BACKGROUND: Neonatal thalamic hemorrhagic stroke is related to cerebral sinus venous thrombosis and associated with neurological sequelae. Predicting factors are however lacking. METHODS: Clinical and radiological findings at onset and on follow-up of 5 neonates with thalamic hemorrhage stroke are described. RESULTS: All neonates presented with abrupt lethargy, ophistotonos, irritability and/or seizures. The thalamic hemorrhagic stroke was most often unilateral (4/5), involving the posterior/entire thalamus in 3 cases and the anterior thalamus in 2...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28427019/transplantation-of-inhibitory-precursor-cells-from-medial-ganglionic-eminence-produces-distinct-responses-in-two-different-models-of-acute-seizure-induction
#4
Daisyléa de Souza Paiva, Simone Amaro Alves Romariz, Maria Fernanda Valente, Luiz Bruno Moraes, Luciene Covolan, Maria Elisa Calcagnotto, Beatriz Monteiro Longo
Medial ganglionic eminence (MGE) is one of the sources of inhibitory interneurons during development. Following transplantation in postnatal developing brain, MGE cells can increase local inhibition suggesting a possible protection to GABAergic dysfunction in brain disorders, such as epilepsy. Since it has been shown that MGE-derived cells harvested as neurospheres are able to suppress seizures, it might be important to investigate whether these protective effects would change in different seizure models. Here, we used pentylenetetrazole-(PTZ) and maximal electroshock (MES)-induced seizure models to test whether the transplantation of MGE cells would increase the threshold to trigger acute seizures...
April 17, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28420012/vitamin-b6-responsive-epilepsy-due-to-a-novel-kcnq2-mutation
#5
Kerstin Alexandra Klotz, Johannes R Lemke, Rudolf Korinthenberg, Julia Jacobs
Mutations in KCNQ2, encoding for subunits of potassium channels, are known to cause neonatal epileptic encephalopathy (NEE). Therapeutic options for these children are often limited. Recently, there are indications that some patients with KCNQ2 NEE show seizure response to vitamin B6 (VB6) therapy. We present a young infant with severe KCNQ2 encephalopathy resulting from a novel de novo mutation (c.1023G>C; p.(Gln341His)). In our patient, VB6 responsiveness could be demonstrated clearly by remarkable seizure-response to VB6 therapy and seizure exacerbation to discontinuation of VB6 therapy...
April 18, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28414069/complications-associated-with-antibiotic-administration-neurological-adverse-events-and-interference-with-antiepileptic-drugs
#6
REVIEW
Susanna Esposito, Maria Paola Canevini, Nicola Principi
Antibiotic use is associated with toxic effects involving the peripheral and central nervous systems and it may interfere with antiepileptic drugs, causing significant variations in their serum levels and activity. Prompt identification of neurological complications during antibiotic therapy is important in order to make appropriate modifications to medication. Characteristics of the drug and the patient, including age and underlying diseases, may favour these complications. The main aim of this study was to review the neurological adverse events that may follow antibiotic administration, the mechanisms that cause them, and the possibility of prevention and treatment...
April 13, 2017: International Journal of Antimicrobial Agents
https://www.readbyqxmd.com/read/28413826/medial-ganglionic-eminence-progenitors-transplanted-into-hippocampus-integrate-in-a-functional-and-subtype-appropriate-manner
#7
Jui-Yi Hsieh, Scott C Baraban
Medial ganglionic eminence (MGE) transplantation rescues disease phenotypes in various preclinical models with interneuron deficiency or dysfunction, including epilepsy. While underlying mechanism(s) remains unclear to date, a simple explanation is that appropriate synaptic integration of MGE-derived interneurons elevates GABA-mediated inhibition and modifies the firing activity of excitatory neurons in the host brain. However, given the complexity of interneurons and potential for transplant-derived interneurons to integrate or alter the host network in unexpected ways, it remains unexplored whether synaptic connections formed by transplant-derived interneurons safely mirror those associated with endogenous interneurons...
March 2017: ENeuro
https://www.readbyqxmd.com/read/28411234/phenotype-of-gaba-transaminase-deficiency
#8
Mary Kay Koenig, Ryan Hodgeman, James J Riviello, Wendy Chung, Jennifer Bain, Claudia A Chiriboga, Kazushi Ichikawa, Hitoshi Osaka, Megumi Tsuji, K Michael Gibson, Penelope E Bonnen, Phillip L Pearl
OBJECTIVE: We report a case series of 10 patients with γ-aminobutyric acid (GABA)-transaminase deficiency including a novel therapeutic trial and an expanded phenotype. METHODS: Case ascertainment, literature review, comprehensive evaluations, and long-term treatment with flumazenil. RESULTS: All patients presented with neonatal or early infantile-onset encephalopathy; other features were hypotonia, hypersomnolence, epilepsy, choreoathetosis, and accelerated linear growth...
April 14, 2017: Neurology
https://www.readbyqxmd.com/read/28399683/kcnq2-associated-neonatal-epilepsy-phenotype-might-correlate-with-genotype
#9
Inn-Chi Lee, Jiann-Jou Yang, Jao-Shwann Liang, Tung-Ming Chang, Shuan-Yow Li
We analyzed the KCNQ2 wild-type gene and 3 mutations to highlight the important association between the KCNQ2 phenotype and genotype. The clinical phenotypes of 3 mutations (p.E515D, p.V543 M, and p.R213Q) were compared. KCNQ2, wild-type, and mutant KCNQ2 alleles were transfected into HEK293 cells before whole-cell patch-clamp analysis. Neurodevelopmental outcomes were worst in patients with the p.R213Q mutation, better in patients with the p.E515D mutation, and best in patients with the novel p.V543 M mutation...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28391250/confirmation-of-mutations-in-prosc-as-a-novel-cause-of-vitamin-b6-dependent-epilepsy
#10
Barbara Plecko, Markus Zweier, Anaïs Begemann, Deborah Mathis, Bernhard Schmitt, Pasquale Striano, Martina Baethmann, Stella Maria Vari, Francesca Beccaria, Federico Zara, Lisa M Crowther, Pascal Joset, Heinrich Sticht, Sorina Mihaela Papuc, Anita Rauch
Vitamin-B6-dependent epilepsies are a heterogenous group of treatable disorders due to mutations in several genes (ALDH7A1, PNPO, ALPL or ALDH4A1). In neonatal seizures, defects in ALDH7A1 and PNPO explain a major fraction of cases. Very recently biallelic mutations in PROSC were shown to be a novel cause in five families. We identified four further unrelated patients harbouring a total of six different mutations, including four novel disease mutations. Vitamin B6 plasma profiles on pyridoxine did not enable the differentiation of patients with PROSC mutations...
April 8, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28384795/child-and-adolescent-health-from-1990-to-2015-findings-from-the-global-burden-of-diseases-injuries-and-risk-factors-2015-study
#11
Nicholas Kassebaum, Hmwe Hmwe Kyu, Leo Zoeckler, Helen Elizabeth Olsen, Katie Thomas, Christine Pinho, Zulfiqar A Bhutta, Lalit Dandona, Alize Ferrari, Tsegaye Tewelde Ghiwot, Simon I Hay, Yohannes Kinfu, Xiaofeng Liang, Alan Lopez, Deborah Carvalho Malta, Ali H Mokdad, Mohsen Naghavi, George C Patton, Joshua Salomon, Benn Sartorius, Roman Topor-Madry, Stein Emil Vollset, Andrea Werdecker, Harvey A Whiteford, Kalkidan Hasen Abate, Kaja Abbas, Solomon Abreha Damtew, Muktar Beshir Ahmed, Nadia Akseer, Rajaa Al-Raddadi, Mulubirhan Assefa Alemayohu, Khalid Altirkawi, Amanuel Alemu Abajobir, Azmeraw T Amare, Carl A T Antonio, Johan Arnlov, Al Artaman, Hamid Asayesh, Euripide Frinel G Arthur Avokpaho, Ashish Awasthi, Beatriz Paulina Ayala Quintanilla, Umar Bacha, Dimtsu Balem, Aleksandra Barac, Till Winfried Bärnighausen, Estifanos Baye, Neeraj Bedi, Isabela M Bensenor, Adugnaw Berhane, Eduardo Bernabe, Oscar Alberto Bernal, Addisu Shunu Beyene, Sibhatu Biadgilign, Boris Bikbov, Cheryl Anne Boyce, Alexandra Brazinova, Gessessew Bugssa Hailu, Austin Carter, Carlos A Castañeda-Orjuela, Ferrán Catalá-López, Fiona J Charlson, Abdulaal A Chitheer, Jee-Young Jasmine Choi, Liliana G Ciobanu, John Crump, Rakhi Dandona, Robert P Dellavalle, Amare Deribew, Gabrielle deVeber, Daniel Dicker, Balem Balm Betsu, Eric L Ding, Manisha Dubey, Amanuel Yesuf Endries, Holly E Erskine, Emerito Jose Aquino Faraon, Andre Faro, Farshad Farzadfar, Joao C Fernandes, Daniel Obadare Fijabi, Christina Fitzmaurice, Thomas D Fleming, Luisa Sorio Flor, Kyle J Foreman, Richard C Franklin, Maya S Fraser, Joseph J Frostad, Nancy Fullman, Gebremedhin Berhe Gebregergs, Alemseged Aregay Gebru, Johanna M Geleijnse, Katherine B Gibney, Mahari Gidey Yihdego, Ibrahim Abdelmageem Mohamed Ginawi, Melkamu Dedefo Gishu, Tessema Assefa Gizachew, Elizabeth Glaser, Audra L Gold, Ellen Goldberg, Philimon Gona, Atsushi Goto, Harish Chander Gugnani, Guohong Jiang, Rajeev Gupta, Fisaha Haile Tesfay, Graeme J Hankey, Rasmus Havmoeller, Martha Hijar, Masako Horino, H Dean Hosgood, Guoqing Hu, Kathryn H Jacobsen, Mihajlo B Jakovljevic, Sudha P Jayaraman, Vivekanand Jha, Tariku Jibat, Catherine O Johnson, Jost Jonas, Amir Kasaeian, Norito Kawakami, Peter N Keiyoro, Ibrahim Khalil, Young-Ho Khang, Jagdish Khubchandani, Aliasghar A Ahmad Kiadaliri, Christian Kieling, Daniel Kim, Niranjan Kissoon, Luke D Knibbs, Ai Koyanagi, Kristopher J Krohn, Barthelemy Kuate Defo, Burcu Kucuk Bicer, Rachel Kulikoff, G Anil Kumar, Dharmesh Kumar Lal, Hilton Y Lam, Heidi J Larson, Anders Larsson, Dennis Odai Laryea, Janni Leung, Stephen S Lim, Loon-Tzian Lo, Warren D Lo, Katharine J Looker, Paulo A Lotufo, Hassan Magdy Abd, El Razek, Reza Malekzadeh, Desalegn Markos Shifti, Mohsen Mazidi, Peter A Meaney, Kidanu Gebremariam Meles, Peter Memiah, Walter Mendoza, Mubarek Abera Mengistie, Gebremichael Welday Mengistu, George A Mensah, Ted R Miller, Charles Mock, Alireza Mohammadi, Shafiu Mohammed, Lorenzo Monasta, Ulrich Mueller, Chie Nagata, Aliya Naheed, Grant Nguyen, Quyen Le Nguyen, Elaine Nsoesie, In-Hwan Oh, Anselm Okoro, Jacob Olusegun Olusanya, Bolajoko O Olusanya, Alberto Ortiz, Deepak Paudel, David M Pereira, Norberto Perico, Max Petzold, Michael Robert Phillips, Guilherme V Polanczyk, Farshad Pourmalek, Mostafa Qorbani, Anwar Rafay, Vafa Rahimi-Movaghar, Mahfuzar Rahman, Rajesh Kumar Rai, Usha Ram, Zane Rankin, Giuseppe Remuzzi, Andre M N Renzaho, Hirbo Shore Roba, David Rojas-Rueda, Luca Ronfani, Rajesh Sagar, Juan Ramon Sanabria, Muktar Sano Kedir Mohammed, Itamar S Santos, Maheswar Satpathy, Monika Sawhney, Ben Schöttker, David C Schwebel, James G Scott, Sadaf G Sepanlou, Amira Shaheen, Masood Ali Shaikh, June She, Rahman Shiri, Ivy Shiue, Inga Dora Sigfusdottir, Jasvinder Singh, Naris Slipakit, Alison Smith, Chandrashekhar Sreeramareddy, Jeffrey D Stanaway, Dan J Stein, Caitlyn Steiner, Muawiyyah Babale Sufiyan, Soumya Swaminathan, Rafael Tabarés-Seisdedos, Karen M Tabb, Fentaw Tadese, Mohammad Tavakkoli, Bineyam Taye, Stephanie Teeple, Teketo Kassaw Tegegne, Girma Temam Shifa, Adbullah Sulieman Terkawi, Bernadette Thomas, Alan J Thomson, Ruoyan Tobe-Gai, Marcello Tonelli, Bach Xuan Tran, Christopher Troeger, Kingsley N Ukwaja, Olalekan Uthman, Tommi Vasankari, Narayanaswamy Venketasubramanian, Vasiliy Victorovich Vlassov, Elisabete Weiderpass, Robert Weintraub, Solomon Weldemariam Gebrehiwot, Ronny Westerman, Hywel C Williams, Charles D A Wolfe, Rachel Woodbrook, Yuichiro Yano, Naohiro Yonemoto, Seok-Jun Yoon, Mustafa Z Younis, Chuanhua Yu, Maysaa El Sayed Zaki, Elias Asfaw Zegeye, Liesl Joanna Zuhlke, Christopher J L Murray, Theo Vos
Importance: Comprehensive and timely monitoring of disease burden in all age groups, including children and adolescents, is essential for improving population health. Objective: To quantify and describe levels and trends of mortality and nonfatal health outcomes among children and adolescents from 1990 to 2015 to provide a framework for policy discussion. Evidence Review: Cause-specific mortality and nonfatal health outcomes were analyzed for 195 countries and territories by age group, sex, and year from 1990 to 2015 using standardized approaches for data processing and statistical modeling, with subsequent analysis of the findings to describe levels and trends across geography and time among children and adolescents 19 years or younger...
April 3, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28384785/maternal-body-mass-index-in-early-pregnancy-and-risk-of-epilepsy-in-offspring
#12
Neda Razaz, Kristina Tedroff, Eduardo Villamor, Sven Cnattingius
Importance: There is growing concern about the long-term neurologic effects of prenatal exposure to maternal overweight and obesity. The causes of epilepsy are poorly understood and, in more than 60% of the patients, no definitive cause can be determined. Objectives: To investigate the association between early pregnancy body mass index (BMI) and the risk of childhood epilepsy and examine associations between obesity-related pregnancy and neonatal complications and risks of childhood epilepsy...
April 3, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28380324/a-15-year-epileptogenic-period-after-perinatal-brain-injury
#13
F Pisani, E Pavlidis, C Facini, C La Morgia, C Fusco, G Cantalupo
Seizures are a frequent acute neurological event in the neonatal period. Up to 12 to 18% of all seizures in newborns are due to perinatal stroke and up to 39% of affected children can then develop epilepsy in childhood. We report the case of a young patient who presented stroke-related seizures in the neonatal period and then developed focal symptomatic epilepsy at 15 years of age, and in whom the epileptic focus was found to co-localize with the site of his ischemic brain lesion. Such a prolonged silent period before onset of remote symptomatic epilepsy has not previously been reported...
January 2017: Functional Neurology
https://www.readbyqxmd.com/read/28363510/x-linked-cobalamin-disorder-hcfc1-mimicking-nonketotic-hyperglycinemia-with-increased-both-cerebrospinal-fluid-glycine-and-methylmalonic-acid
#14
Emmanuel Scalais, Elise Osterheld, Christiane Weitzel, Linda De Meirleir, Frederic Mataigne, Geert Martens, Tamim H Shaikh, Curtis R Coughlin, Hung-Chun Yu, Michael Swanson, Marisa W Friederich, Gunter Scharer, Daniel Helbling, Jamie Wendt-Andrae, Johan L K Van Hove
BACKGROUND: Autosomal recessive or X-linked inborn errors of intracellular cobalamin metabolism can lead to methylmalonic aciduria and homocystinuria. In neonates, both increased cerebrospinal fluid glycine and cerebrospinal fluid/plasma glycine ratio are biochemical features of nonketotic hyperglycinemia. METHODS: We describe a boy presenting in the neonatal period with hypotonia, tonic, clonic, and later myoclonic seizures, subsequently evolving into refractory epilepsy and severe neurocognitive impairment...
January 7, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28359187/prediction-of-future-epilepsy-in-neonates-with-hypoxic-ischemic-encephalopathy-who-received-selective-head-cooling
#15
Tiffani L McDonough, Juliann M Paolicchi, Linda A Heier, Nikkan Das, Murray Engel, Jeffrey M Perlman, Zachary M Grinspan
Epilepsy outcomes after therapeutic hypothermia for neonates with hypoxic-ischemic encephalopathy are understudied. The authors used multivariable logistic regression to predict epilepsy in neonates after selective head cooling. Sensitivity analyses used magnetic resonance imaging (MRI) and electroencephalogram (EEG) interpretations by different clinicians. Fifty neonates had 2-year follow-up. Nine developed epilepsy. Predictors included pH ≤6.8 on day of birth (adjusted odds ratio [OR] 19 [95% confidence interval (CI) 1-371]), burst suppression on EEG on day 4 (8...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28343216/susceptibility-weighted-imaging-identifies-iron-oxide-labeled-human-neural-stem-cells-automated-computational-detection
#16
Mohsen Baghchechi, Amy Plaia, Mary Hamer, Nirmalya Ghosh, Stephen Ashwal, Andre Obenaus
Neonatal hypoxic-ischemic brain injury (HII) can lead to devastating neurological outcomes such as cerebral palsy, epilepsy, and mental retardation. Human neural stem cell (hNSC) therapy provides new hope for the treatment of neonatal HII. These multipotent cells can aid in HII recovery by activating multiple reparative mechanisms including secretion of neurotrophic factors that enhance brain repair and plasticity. For clinical use of implanted hNSCs, methods are required to identify, quantify, track, and visualize migration and replication in an automated and reproducible fashion...
March 25, 2017: Developmental Neuroscience
https://www.readbyqxmd.com/read/28336156/pediatric-arterial-ischemic-stroke-epidemiology-risk-factors-and-management
#17
Ryan J Felling, Lisa R Sun, Emily C Maxwell, Neil Goldenberg, Timothy Bernard
Pediatric arterial ischemic stroke (AIS) is an uncommon but important cause of neurologic morbidity in neonates and children, with consequences including hemiparesis, intellectual disabilities, and epilepsy. The causes of pediatric AIS are unique to those typically associated with stroke in adults. Familiarity with the risk factors for AIS in children will help with efficient diagnosis, which is unfortunately frequently delayed. Here we review the epidemiology and risk factors for AIS in neonates and children...
March 7, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28300030/hemispheric-polymicrogyria-and-neonatal-seizures-a-potentially-life-threatening-combination
#18
Paula M Brna, A Simon Harvey, Richard J Leventer
Polymicrogyria (PMG) is a heterogeneous malformation of cortical development characterized by excessive gyration and abnormal cortical lamination. Typically, bilateral forms have more severe developmental delay and early-onset epilepsy, but the full spectrum of severity remains ill-defined. We report two cases of right hemispheric PMG and neonatal-onset, drug-resistant seizures culminating in early death. Case 1 began having seizures on Day 1 of life that intensified in severity and proved resistant to numerous antiepileptic drugs...
March 14, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28295155/antecedents-and-neuroimaging-patterns-in-cerebral-palsy-with-epilepsy-and-cognitive-impairment-a-population-based-study-in-children-born-at-term
#19
Kristina Ahlin, Bo Jacobsson, Staffan Nilsson, Kate Himmelmann
INTRODUCTION: Antecedents of accompanying impairments in cerebral palsy (CP) and their relation to neuroimaging patterns need to be explored. MATERIAL AND METHODS: A population-based study of 309 children with CP born at term in 1983-1994. Pre-, intra- and postpartum variables previously studied as antecedents of CP type and motor severity were analysed in children with CP and cognitive impairment and/or epilepsy, and in children with CP without these accompanying impairments...
March 12, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28293314/clinical-spectrum-of-cerebral-palsy-and-associated-disability-in-south-egypt-a-local-survey-study
#20
Osama Abas, Faten Abdelaziem, Ayman Kilany
BACKGROUND: Cerebral palsy is the most common cause of motor disability in children with a prevalence of 2-10/1,000 live births in the developing areas. AIM: The epidemiology, clinical picture, and associated comorbidities in CP have been extensively studied in high-resource countries, but in low-resource areas, including Africa, those studies are still lacking. METHODS: Cerebral palsy cases were prospectively recruited from every physiotherapy centre in Bani-Mazar city, Egypt, in a cross-sectional study from May 2015 to November 2015...
March 15, 2017: Open Access Macedonian Journal of Medical Sciences
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