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neonatal epilepsy

Elizabeth Hisle-Gorman, Apryl Susi, Theophil Stokes, Gregory Gorman, Christine Erdie-Lalena, Cade M Nylund
OBJECTIVE: We explored the association of 29 previously reported neonatal, perinatal and prenatal conditions and exposures with later diagnosis of ASD in a large sample of children followed over multiple years. STUDY DESIGN: A retrospective case-cohort study was formed using the Military Health System database. Cases were identified by International Classification of Diseases, Ninth Revision (ICD-9) codes for ASD between 2000 and 2013 and were matched 3:1 with controls on sex, date of birth, and enrollment time-frame...
March 14, 2018: Pediatric Research
Francesco Pisani, Antonio Percesepe, Carlotta Spagnoli
Seizures are more frequent in newborns than in any other period of life. In most cases they are due to acute dysfunction of the central nervous system; however some can be true epileptic disorders with an early onset. Although rare, diagnosis of neonatal-onset epilepsies is rising as genetic testing increases. The spectrum of clinical severity associated with specific genes can vary widely with difficulties in providing genotype-phenotype correlations. Therefore, clinicians should strive in order to clearly delineate the clinical features associated with pathogenic genetic variants with the aim to guide the increasing use of genetic testing and improve clinical management...
February 16, 2018: European Journal of Paediatric Neurology: EJPN
Jason A Justice, Russell M Sanchez
Hypoxic-ischemic encephalopathy (HIE) refers to acute brain injury that results from perinatal asphyxia. HIE is a major cause of neonatal seizures, and outcomes can range from apparent recovery to severe cognitive impairment, cerebral palsy, and epilepsy. Acute partial seizures frequently aid in indicating the severity and localization of brain injury. However, evidence also suggests that the occurrence of seizures further increases the likelihood of epilepsy in later life regardless of the severity of the initial injury...
2018: Methods in Molecular Biology
Anna-Maria Katsarou, Aristea S Galanopoulou, Solomon L Moshé
Epilepsy is a chronic neurological disorder affecting 65 million people worldwide. The etiologies of seizures can often be identified as genetic, metabolic, structural, immunologic or infectious, but in many cases the cause is unknown with the current diagnostic tools. Epileptogenesis is a process during which genetic or other acquired etiologies/insults lead to functional, structural, or network reorganization changes in the brain that may lead to the development of, or progression of, spontaneous seizures...
December 23, 2017: Seminars in Fetal & Neonatal Medicine
Isabel Benavente-Fernandez, Juan J Ramos-Rodriguez, Carmen Infante-Garcia, Gema Jimenez-Gomez, Alfonso Lechuga-Sancho, Simon Lubian-Lopez, Monica Garcia-Alloza
Hypoxic-ischemic encephalopathy (HIE) is a severe neonatal complication responsible for ∼23% of all neonatal deaths. Also, 30-70% of these patients will suffer lifetime disabilities, including learning impairment, epilepsy or cerebral palsy. However, biomarkers for HIE screening, or monitoring disease progression are limited. Herein, we sought to evaluate the clinical usefulness of plasma-type gelsolin (pGSN) and amyloid-beta (Aβ) 40 and 42 as prognostic biomarkers for HIE. pGSN has been previously suggested as a feasible marker in other brain injuries and amyloid-beta 40 and 42 are classically assessed in neurodegenerative diseases...
January 1, 2018: Journal of Cerebral Blood Flow and Metabolism
Ara Ko, Song Ee Youn, Se Hee Kim, Joon Soo Lee, Sangwoo Kim, Jong Rak Choi, Heung Dong Kim, Seung-Tae Lee, Hoon-Chul Kang
OBJECTIVE: We performed targeted gene-panel sequencing for children with developmental and epileptic encephalopathy (DEE) and evaluated the clinical implications of genotype-phenotype correlations. METHODS: We assessed 278 children with DEE using a customized gene panel that included 172 genes, and extensively reviewed their clinical characteristics, including therapeutic efficacy, according to genotype. RESULTS: In 103 (37.1%) of the 278 patients with DEE, 35 different disease-causing monogenic mutations were identified...
February 12, 2018: Epilepsy Research
Hannah C Glass, Zachary M Grinspan, Renée A Shellhaas
Acute symptomatic seizures are a common sign of neurological dysfunction and brain injury in neonates and occur in approximately one to three per 1000 live births. Seizures in neonates are usually a sign of underlying brain injury and, as such, are commonly associated with adverse outcomes. Neurological morbidities in survivors often co-occur; epilepsy, cerebral palsy, and intellectual disability often occur together in the most severely affected children. Risk factors for adverse outcome include prematurity, low Apgar scores, low pH on the first day of life, seizure onset <24 or >72 h after birth, abnormal neonatal neurological examination, abnormal neonatal electroencephalographic background, status epilepticus, and presence and pattern of brain injury (particularly deep gray or brainstem injury)...
February 6, 2018: Seminars in Fetal & Neonatal Medicine
Yukiko Mogami, Yasuhiro Suzuki, Yoshiko Murakami, Tae Ikeda, Sadami Kimura, Keiko Yanagihara, Nobuhiko Okamoto, Taroh Kinoshita
Inherited glycosylphosphatidylinositol anchor deficiency causes a variety of clinical symptoms, including epilepsy, however, little information is available regarding seizures as a symptom. We report three siblings with inherited glycosylphosphatidylinositol anchor deficiency with PIGL gene mutations. The phenotypes of the subjects were not consistent with CHIME syndrome or Mabry syndrome, as reported in previous studies. All shared some clinical manifestations, including transient apnoea as neonates, dysmorphic facial features, and intellectual disability...
February 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
Katalin Štěrbová, Markéta Vlčková, Petr Klement, Jana Neupauerová, David Staněk, Hana Zůnová, Pavel Seeman, Petra Laššuthová
BACKGROUND: Recently, a study providing insight into GABRB3 mutational spectrum was published (Møller et al 2017). The authors report considerable pleiotropy even for single mutations and were not able to identify any genotype-phenotype correlations. METHODS: The proband (twin B) was referred for massively parallel sequencing of epilepsy-related gene panel because of hypotonia and neonatal seizures. The revealed variant was confirmed with Sanger sequencing in the proband and the twin A, and both parents were tested for the presence of the variant...
February 14, 2018: Neuropediatrics
Fatema Al Amrani, Jaclyn Marcovitz, Priscille-Nice Sanon, May Khairy, Christine Saint-Martin, Michael Shevell, Pia Wintermark
AIM: To determine whether an MRI scoring system, which was validated in the pre-cooling era, can still predict the neurodevelopmental outcome of asphyxiated newborns treated with hypothermia at 2 years of age. PATIENTS AND METHOD: We conducted a retrospective cohort study of asphyxiated newborns treated with hypothermia. An MRI scoring system, which was validated in the pre-cooling era, was used to grade the severity of brain injury on the neonatal brain MRI. Their neurodevelopment was assessed around 2 years of age; adverse outcome included cerebral palsy, global developmental delay, and/or epilepsy...
January 31, 2018: European Journal of Paediatric Neurology: EJPN
Phillip L Pearl
PURPOSE OF REVIEW: Epilepsy syndromes are an important clinical construct in pediatric epilepsy, as they encompass recognizable patterns seen in patients with epilepsies, whether of the more benign variety or associated with encephalopathy. RECENT FINDINGS: Syndromes may be organized by age of onset: neonatal, infantile, childhood, or adolescent. The assignment of a syndrome has specific implications for diagnosis, management, and prognostication. The 2010 revised classification of the epilepsies by the International League Against Epilepsy preserved the syndrome approach, while progress in genetics continues to advance our understanding of the pathophysiology and overlap of the epilepsy syndromes...
February 2018: Continuum: Lifelong Learning in Neurology
Erika J T Axeen, Heather E Olson
Neonatal epilepsy genetics is a rapidly expanding field with recent technological advances in genomics leading to an expanding list of genetic disorders associated with neonatal-onset epilepsy. The genetic causes of neonatal epilepsy can be grouped into the following categories: (i) malformations of cortical development, (ii) genetic-metabolic, (iii) genetic-vascular, (iv) genetic-syndromic, and (v) genetic-cellular. Clinically, epilepsy in the neonate shows phenotypic overlap with pathogenic variants in unrelated genes causing similar clinical presentation (locus heterogeneity) and variants in the same gene leading to a wide clinical spectrum ranging from benign familial neonatal seizures to more severe epileptic encephalopathies (variable expressivity)...
January 31, 2018: Seminars in Fetal & Neonatal Medicine
Marie-Coralie Cornet, Tristan T Sands, Maria Roberta Cilio
Whereas the majority of seizures in neonates are related to acute brain injury, a substantial minority are the first symptom of a neonatal-onset epilepsy, often linked to a pathogenic genetic variant. This defect may disrupt cortical development (e.g., lissencephaly, focal cortical dysplasia), lead to metabolic changes (e.g., pyridoxine-dependent epilepsy, sulfite oxidase deficiency) or lead to cortical dysfunction without metabolic or macroscopic structural changes (e.g., channelopathies, STXBP1). Historically, studies on treatment response and long-term consequences of neonatal seizures have lumped all etiologies together...
January 31, 2018: Seminars in Fetal & Neonatal Medicine
Rangan Srinivasaraghavan, Narayanan Parameswaran, Deborah Mathis, Celine Bürer, Barbara Plecko
Antiquitin deficiency is the most prevalent form of pyridoxine-dependent epilepsy. While most patients present with neonatal onset of therapy-resistant seizures, a few cases with late-onset during infancy have been described. Here, we describe the juvenile onset of epilepsy at the age of 17 years due to antiquitin deficiency in an Indian female with homozygosity for the most prevalent ALDH7A1 missense mutation, c.1279G > C; p.Glu427Gln in exon 14. The diagnosis was established along familial cosegregation analysis for an affected offspring, that had neonatal pyridoxine responsive seizures and had been found to be compound heterozygous for c...
February 5, 2018: Neuropediatrics
S C Ren, Z X Tian, Y X Deng, Y J Wang, X J Wu, Y Z Zhang, B Q Gao
Objective: To analyze the clinical manifestations, therapeutic efficacy, prognosis and characteristics of NPC1 mutation in Chinese patients with Niemann-Pick disease type C(NPC). Methods: Ten unrelated Chinese NPC patients were diagnosed by NPC1 mutation analysis from July 2013 to February 2017 in Beijing Tian Tan Hospital of Capital Medical University. Clinical data of 10 cases were analyzed retrospectively which included clinical manifestations, laboratory results and NPC1 gene mutation features, and a series of follow-up were carried out about therapeutic efficacy and prognosis...
January 23, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
Dianne Dash, Chelsea Dash, Sara Primrose, Lizbeth Hernandez-Ronquillo, Farzad Moien-Afshari, Lady D Ladino, Juan Pablo Appendino, Lindsay Mazepa, Christine Elliott, Seyed M Mirsattari, Paolo Federico, Esther Bui, Gary Hunter, Rajesh RamachandranNair, Rohit Sharma, Paula Melendres, Joanne Nikkel, Dang Khoa Nguyen, Salah Almubarak, Mike Rigby, Jose F Téllez-Zenteno
Surface electroencephalogram (EEG) recording remains the gold standard for noninvasive assessment of electrical brain activity. It is the most efficient way to diagnose and classify epilepsy syndromes as well as define the localization of the epileptogenic zone. The EEG is useful for management decisions and for establishing prognosis in some types of epilepsy. Electroencephalography is an evolving field in which new methods are being introduced. The Canadian Society of Clinical Neurophysiologists convened an expert panel to develop new national minimal guidelines...
November 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
Faisal Khan, Zafar Saeed Saify, Khawar Saeed Jamali, Saima Naz, Sohail Hassan, Sonia Siddiqui
Vitex negundo (Vn) extract is famous for the treatment of neurological diseases such as migraine and epilepsy. These neurological diseases have been associated with abnormally increased influx of sodium ions into the neurons. Drugs that inhibit voltage gated sodium channels can be used as potent anti-epileptics. Till now, the effects of Vn on sodium channels have not been investigated. Therefore, we have investigated the effects of methalonic fraction of Vn extract in Murine Neuro 2A cell line. Cells were cultured in a defined medium with or without the Vn extract (100 μg/ml)...
January 2018: Pakistan Journal of Pharmaceutical Sciences
Paolo Ambrosino, Elena Freri, Barbara Castellotti, Maria Virginia Soldovieri, Ilaria Mosca, Laura Manocchio, Cinzia Gellera, Laura Canafoglia, Silvana Franceschetti, Barbara Salis, Nunzio Iraci, Francesco Miceli, Francesca Ragona, Tiziana Granata, Jacopo C DiFrancesco, Maurizio Taglialatela
Over one hundred mutations in the Kv7.2 (KCNQ2) gene encoding for phosphatidylinositol 4,5-bisphosphate (PIP2)-sensitive voltage-gated K+ channel subunits have been identified in early-onset epilepsies with wide phenotypic variability. By contrast, only few mutations in the closely related Kv7.3 (KCNQ3) gene have been reported, mostly associated with typical benign familial neonatal seizures (BFNS). We herein describe a patient affected by early onset epileptic encephalopathy (EOEE) carrying two Kv7.3 missense mutations (p...
January 30, 2018: Molecular Neurobiology
Julie A Wixey, Hanna E Reinebrant, Kirat K Chand, Kathryn M Buller
It has become increasingly evident the serotonergic (5-hydroxytryptamine, 5-HT) system is an important central neuronal network disrupted following neonatal hypoxic-ischemic (HI) insults. Serotonin acts via a variety of receptor subtypes that are differentially associated with behavioural and cognitive mechanisms. The 5-HT7 receptor is purported to play a key role in epilepsy, anxiety, learning and memory and neuropsychiatric disorders. Furthermore, the 5-HT7 receptor is highly localized in brain regions damaged following neonatal HI insults...
January 22, 2018: Neurochemical Research
Michalis Koutroumanidis, Alexis Arzimanoglou, Roberto Caraballo, Sushma Goyal, Anna Kaminska, Pramote Laoprasert, Hirokazu Oguni, Guido Rubboli, William Tatum, Pierre Thomas, Eugen Trinka, Luca Vignatelli, Solomon L Moshé
The concept of epilepsy syndromes, introduced in 1989, was defined as "clusters of signs and symptoms customarily occurring together". Definition of epilepsy syndromes based on electro-clinical features facilitated clinical practice and, whenever possible, clinical research in homogeneous groups of patients with epilepsies. Progress in the fields of neuroimaging and genetics made it rapidly clear that, although crucial, the electro-clinical description of epilepsy syndromes was not sufficient to allow much needed development of targeted therapies and a better understanding of the underlying pathophysiological mechanisms of seizures...
December 1, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
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