Search Our Scientific Publications & Authors

Epileptic Disord 2019 Feb 18. Epub 2019 Feb 18.

Department of Neurosurgery, Section for Pediatric Neurosurgery, University of Ulm, Germany.

Focal cortical dysplasia is a common cause of medically refractory epilepsy in infancy and childhood. We report a neonate with seizures occurring within the first day of life. Continuous video-EEG monitoring led to detection of left motor seizures and a right frontal EEG seizure pattern. Read More

Epileptic Disord 2019 Feb 18. Epub 2019 Feb 18.

Department of Sciences for Health Promotion and Mother and Child Care "G. D'Alessandro," University of Palermo, Palermo.

Benign familial neonatal epilepsy (BFNE) is caused, in about 5% of families, by mutations in the KCNQ3 gene encoding voltage-gated potassium channel subunits. Usually, newborns with BFNE show a normal neurological outcome, but recently, refractory seizures and/or developmental disability have been reported suggesting phenotype variability associated with KCNQ3-related BFNE. Here, we describe a proband from a BFNE family carrying a novel variant in the KCNQ3 gene. Read More

Curr Treat Options Neurol 2019 Feb 18;21(2). Epub 2019 Feb 18.

Division of Neurology, Department of Pediatrics, Nationwide Children's Hospital, Ohio State University, 611 E Livingston Avenue FB4, Columbus, OH, 43205, USA.

Purpose Of Review: The purpose of this review is to report recent advances in treatment of neonatal seizures, with a specific focus on new literature since a 2013 systematic review performed by this author (Slaughter) and others. There is a paucity of data with regard to well-defined status epilepticus (SE) in neonates, so treatment of recurrent seizures was also included in this inquiry. We aimed to summarize the efficacy and safety profiles of current therapeutic options as well as describe trends in medication selection in the neonatal intensive care unit (NICU) setting. Read More

Epilepsy Behav 2019 Feb 12;92:332-340. Epub 2019 Feb 12.

Department of Anatomy, Cell biology and Physiological Sciences, Faculty of Medicine, American University of Beirut, Beirut, Lebanon; Division of Child Neurology, Department of Pediatric and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon. Electronic address:

Hypoxic encephalopathy of the newborn is a major cause of long-term neurological sequelae. We have previously shown that CEP-701 (lestaurtinib), a drug with an established safety profile in children, attenuates short-term hyperexcitability and tropomyosin-related kinase B (TrkB) receptor activation in a well-established rat model of early life hypoxic seizures (HS). Here, we investigated the potential long-term neuroprotective effects of a post-HS transient CEP-701 treatment. Read More

Dev Med Child Neurol 2019 Feb 14. Epub 2019 Feb 14.

Child Neuropsychiatry Unit, Neuroscience Division, Medicine and Surgery Department, University of Parma, Parma, Italy.

J Child Neurol 2019 Feb 14:883073819829256. Epub 2019 Feb 14.

1 Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.

Background/objective:: Seizure monitoring via amplitude-integrated EEG is standard of care in many neonatal intensive care units; however, conventional EEG is the gold standard for seizure detection. We compared the diagnostic yield of amplitude-integrated EEG interpreted at the bedside, amplitude-integrated EEG interpreted by an expert, and conventional EEG.

Methods:: Neonates requiring seizure monitoring received amplitude-integrated EEG and conventional EEG in parallel. Read More

Rev Environ Health 2019 Feb 12. Epub 2019 Feb 12.

Institute of Child Health - Inborn Errors of Metabolism, Hivon and Papadiamantopoulou, Athens, Attica, Greece.

Parents had already taken information about galactosemia from web medical pages because they were asked for a second blood sample from their infant suspected for the disease. All enzyme types of this disorder are diagnosed by neonatal screening perinatally and treated with a galactose (GAL) free diet. The most frequent information about the disease was mental retardation (100%), eye cataracts (100%) liver dysfunction (90. Read More

Mov Disord Clin Pract 2019 Jan 9;6(1):34-39. Epub 2018 Nov 9.

Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology Baylor College of Medicine Houston Texas USA.

Background: Since its localization to the gene in 2002, the phenotype of the disorder historically called "benign hereditary chorea" has been expanding beyond chorea.

Methods: The phenomenology of movement disorders and other symptomatology associated with mutations in were characterized after a detailed evaluation of consecutive patients evaluated in our clinic over the past 3 years.

Results: We studied 5 patients (3 females), ages 2 to 31 years, with confirmed pathogenic variants in All patients exhibited chorea, gross motor delay, and gait impairment. Read More

Eur J Paediatr Neurol 2019 Jan 26. Epub 2019 Jan 26.

Department of Neonatology, Wilhelmina Children's Hospital, Utrecht, University Medical Center Utrecht, Utrecht University, the Netherlands.

Background: Punctate white matter lesions (PWMLs) are small focal patches of increased signal intensity (SI) on T1- and decreased SI on T2-weighted magnetic resonance imaging (MRI). To date, there have been few reports of PWMLs in term born infants.

Objective: To identify associated diagnoses and factors predictive of clinical outcome in (near) term infants with PWMLs. Read More

J Matern Fetal Neonatal Med 2019 Feb 11:1-171. Epub 2019 Feb 11.

a Department of Obstetrics and Gynecology , University of Toronto , Toronto , Canada.

Many studies have reported on the association of reduced fetal movements and stillbirth, but little is known about excessive fetal movements and adverse pregnancy outcome. First described in 1977, sudden excessive fetal movement was noted to reflect acute fetal distress and subsequent fetal demise. Subsequently, little was reported regarding this phenomenon until 2012. Read More

EClinicalMedicine 2018 Dec;6:26-35

Department of Paediatrics, Imperial College London, London, UK.

Background: Neonatal encephalopathy (NE) is a leading cause of global child mortality. Survivor outcomes in low-resource settings are poorly described. We present early childhood outcomes after NE in Uganda. Read More

Eur J Paediatr Neurol 2019 Jan 29. Epub 2019 Jan 29.

Epileptology, Sleep Disorders and Functional Pediatric Neurology, Member of ERN-EpiCARE; HFME, Hospices Civils de Lyon, 59 Boulevard Pinel, Bron, France.

Objectives: To evaluate the predictive factors for status epilepticus (SE) in neonates and prognostic factors for patient outcomes in newborns suffering either isolated seizures or SE.

Methods: A retrospective single-center study from January 2010 to December 2014, included 91 newborns who had neonatal seizures. Among them, 50 newborns experienced SE and 41 newborns presented isolated seizures only. Read More

PLoS One 2019 8;14(2):e0211901. Epub 2019 Feb 8.

Goldschleger Eye Research Institute, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

Mutations in the SCN1A gene, which encodes for the voltage-gated sodium channel NaV1.1, cause Dravet syndrome, a severe developmental and epileptic encephalopathy. Genetic testing of this gene is recommended early in life. Read More

Medicine (Baltimore) 2019 Feb;98(6):e14301

Central Laboratory of Medicine, Maternity and Child Health Hospital of Zhenjiang, Zhenjiang, Jiangsu, P.R. China.

Rationale: Eclampsia is a life-threatening complication of pregnancy. Eclampsia is a leading cause of maternal and neonatal morbidity and mortality with most injury being associated with the seizures that mark the onset of the disease. It is vital that medical worker managing eclampsia have an understanding of the disease process. Read More

Mol Genet Genomic Med 2019 Feb 6:e596. Epub 2019 Feb 6.

Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.

Background: Heterozygous mutations in the AT-hook DNA-binding motif containing one (AHDC1, OMIM * 615790) gene cause an autosomal dominant multisystem developmental disorder known as Xia-Gibbs syndrome (OMIM #615829). Xia-Gibbs syndrome typically presented with global developmental delay, hypotonia, obstructive sleep apnea, seizures, delayed myelination, micrognathia, and other mild dysmorphic features.

Methods: Description of the clinical materials of two Chinese boys who were diagnosed with Xia-Gibbs syndrome based on clinical presentations and next generation sequencing. Read More

Case Rep Pediatr 2019 9;2019:4740504. Epub 2019 Jan 9.

Professor and Head, Department of Microbiology, BP Koirala Institute of Health Sciences, Dharan, Nepal.

Introduction: are part of the normal flora of the human respiratory tract and are known to have low pathogenic potential. The organism is rarely reported in the literature as the causative agent of meningitis. We report the first case of early-onset neonatal meningitis associated with from Nepal. Read More

J Matern Fetal Neonatal Med 2019 Feb 5:1-11. Epub 2019 Feb 5.

e Neurology , University of Wisconsin School of Medicine and Public Health , Madison , Wisconsin , USA.

Objective: Though central nervous system irritability is a well-established consequence of neonatal drug withdrawal, brain function in infants with neonatal abstinence syndrome (NAS) is not well understood. Amplitude-integrated electroencephalography (aEEG) is a bedside tool used for monitoring brain activity and seizures. We describe the prevalence of abnormal aEEG background patterns in infants with NAS. Read More

Dev Med Child Neurol 2019 Feb 4. Epub 2019 Feb 4.

Department of Neurology, Stanford University School of Medicine, Palo Alto, California, USA.

Aim: This population-based study aimed to estimate the impact of neonatal seizures on subsequent neurological outcomes, regardless of underlying etiology.

Method: We performed a retrospective cohort study (1st January 2009-31st December 2014), using a USA nationwide claims database. Newborn infants enrolled in 2009 were followed for up to 6 years. Read More

Arch Gynecol Obstet 2019 Jan 31. Epub 2019 Jan 31.

Department of Obstetrics and Gynecology, College of Medicine, Hawler Medical University, Erbīl, Kurdistan Region, Iraq.

Purpose: The aim of this study was to evaluate the relationship between serum beta-human chorionic gonadotropin (β-hCG) and preeclampsia (PE) and the effects of βhCG on maternal and perinatal outcomes.

Methods: This case-control study included 125 pregnant women who were admitted to the labor ward of the Maternity Teaching Hospital, Erbil City, Kurdistan, Iraq between January and December 2016. Participants included 50 women with severe PE, 25 with mild PE, and 50 who were normotensive. Read More

Pediatr Allergy Immunol 2019 Jan 31. Epub 2019 Jan 31.

Division of Paediatric Dermatology, Children's Hospital AUF DER BULT, Hannover, Germany.

Neonatal and infantile erythroderma (NIE) represent the common clinical phenotype of heterogenous diseases ranging from benign and transient skin conditions to fatal multiorgan disorders. NIE regularly demands a comprehensive diagnostic workup in a multiprofessional setting, especially if newborns and young infants with the disease develop a failure to thrive and concomitant infectious, neurological or metabolic complications. By obtaining a detailed medical history and performing a thorough clinical examination, targeted diagnostic steps can be scheduled for most affected children. Read More

Ann Indian Acad Neurol 2019 Jan-Mar;22(1):111-115

Division of Neuroradiology and Pediatric Radiology, University of Arkansas For Medical Sciences, Little Rock, Arkansas, USA.

Aicardi-Goutières syndrome (AGS) is a rare, genetic inflammatory disease due to mutations in any of the seven genes discovered to date (, and ). Clinical onset is seen most commonly or in infancy; irritability, feeding difficulties, jitteriness, microcephaly, abnormal movements, seizures, bone marrow suppression, and liver dysfunction are seen either during the neonatal age group or within the first few months of life with abrupt onset of neurologic regression and slowing of head growth. Diffusely abnormal white matters with swelling of frontal or temporal lobes, cerebral atrophy, and intracranial calcification are typical neuroradiologic abnormalities. Read More

Pediatr Pulmonol 2019 Jan 27. Epub 2019 Jan 27.

Department of Pediatrics, University of Michigan, Ann Arbor, Michigan.

Objective: Among older infants and children, sleep-disordered breathing (SDB) has negative neurocognitive consequences. We evaluated the frequency and potential impact of SDB among newborns who require intensive care.

Study Design: Term and near-term newborns at risk for seizures underwent 12-h attended polysomnography in the neonatal intensive care unit (NICU). Read More

Eur J Obstet Gynecol Reprod Biol 2019 Mar 17;234:103-107. Epub 2019 Jan 17.

Department of Obstetrics & Gynecology, The Edith Wolfson Medical Center, Holon, Israel Affiliated with Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address:

Objective: To study the association between bloody amniotic fluid (BAF) during labor and adverse pregnancy outcomes.

Study Design: In the last 10 years we have implemented an institutional protocol that mandates obstetricians/midwives to report their subjective impression of the color of amniotic fluid (clear, meconium stained, bloody) during labor. The medical records, and neonatal charts of all singleton deliveries ≥ 37 weeks between 2008-2018 were reviewed. Read More

Dev Med Child Neurol 2019 Jan 25. Epub 2019 Jan 25.

Inserm U1129, Infantile Epilepsies and Brain Plasticity, CEA Gif/Yvette, Pôle de Recherche et d'Enseignement Supérieur Sorbonne Paris Cité, Paris Descartes University, Paris, France.

The aim of this study was to disentangle mechanisms of epileptogenesis in monogenic epilepsies in children. We reviewed paediatric monogenic epilepsies excluding brain malformation or an inborn error of metabolism, but including the gene function whether there is loss-of-function or gain-of-function, age at gene expression when available, and associated epilepsy syndrome. Genes for which at least five patients with similar epilepsy phenotype had been reported were selected. Read More

BMJ Open 2019 Jan 24;9(1):e022739. Epub 2019 Jan 24.

Neonatal Intensive Care Unit, CHRU de Tours, Tours, France.

Introduction: Therapeutic schedules for treating neonatal seizures remain elusive. First-line treatment with phenobarbital is widely supported but without strong scientific evidence. Levetiracetam (LEV) is an emerging and promising antiepileptic drug (AED). Read More

Ther Hypothermia Temp Manag 2019 Jan 24. Epub 2019 Jan 24.

2 Fundación NeNe, Madrid, Spain.

Cerebral oximetry using near-infrared spectroscopy (NIRS) provides continuous, noninvasive assessment of the degree of hemoglobin saturation of the brain tissue. Previous studies suggest that high values of regional cerebral tissue oxygen saturation (rScO) during the first days in neonates with significant hypoxic-ischemic encephalopathy (HIE) are correlated with an adverse neurological outcome. However, the results are not consistent among the studies. Read More

Childs Nerv Syst 2019 Mar 23;35(3):463-468. Epub 2019 Jan 23.

Department of Biostatistics, Cukurova University, Adana, Turkey.

Purpose: We aimed to determine the characteristics of epileptic seizures that significantly affect the cognitive functions of 83 patients followed with tuberous sclerosis complex (TSC), their resistance to treatment and risk factors causing this resistance.

Materials-methods: In order to determine the prognosis, the seizure-free/seizure-controlled group and the group with refractory seizures were compared. In addition, risk factors affecting cognitive functions in the patients were determined. Read More

Neurohospitalist 2019 Jan 26;9(1):30-36. Epub 2018 Mar 26.

Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.

Ornithine transcarbamylase (OTC) deficiency is an X-linked recessive disorder that usually presents in the neonatal period. Late-onset presentation of OTC can cause mild to severe symptoms. We describe laboratory and clinical findings of late-onset presentations of OTC deficiency. Read More

Neonatology 2019 Jan 22;115(3):247-255. Epub 2019 Jan 22.

Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva,

Background: The incidence of seizures in the neonatal period is thought to be high due to a lower seizure threshold of the immature brain. Data on seizures in extremely premature infants are scarce.

Objectives: The aim of this study was to determine whether seizures are an independent risk factor for in-hospital death and to determine the incidence of seizures in extremely premature infants. Read More

Am J Perinatol 2019 Jan 21. Epub 2019 Jan 21.

Community Health Sciences, Institute of Public Health, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

Objective:  This article identifies the prevalence and associated factors of hypophosphatemia (HP) in very low birth weight (VLBW) infants in the first week of life.

Study Design:  Prospective exploratory cohort study of 106 consecutive VLBW infants admitted to neonatal intensive care at Foothills Hospital, Calgary, Canada. HP was defined as at least one measurement of serum phosphate < 1. Read More

J Inherit Metab Dis 2019 Jan 21. Epub 2019 Jan 21.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO, USA.

Pyridoxine-dependent epilepsy (PDE) is often characterized as an early onset epileptic encephalopathy with dramatic clinical improvement following pyridoxine supplementation. Unfortunately, not all patients present with classic neonatal seizures or respond to an initial pyridoxine trial, which can result in the under diagnosis of this treatable disorder. Restriction of lysine intake and transport is associated with improved neurologic outcomes, although treatment should be started in the first year of life to be effective. Read More

Neuroepidemiology 2019 Jan 18;52(3-4):144-151. Epub 2019 Jan 18.

Child Neuropsychiatric Unit, Department of Medicine and Surgery, Neuroscience Section, University of Parma, Parma, Italy.

Background: The incidence of childhood and adolescence epilepsy varies in different areas and over time. Published reports in the Italian pediatric population are few and there is no information on the incidence of epilepsy using the new clinical definition of the disease signed by the International League Against Epilepsy. An increased risk of epilepsy is reported in subjects who presented with neonatal seizures (NS), but few population-based studies are available that compare incidence and age at onset of epilepsy in children with and without NS. Read More

AJNR Am J Neuroradiol 2019 Feb 17;40(2):347-352. Epub 2019 Jan 17.

Radiology (L.R., J.A.R.), Nationwide Children's Hospital, Columbus, Ohio.

Background And Purpose: Advanced imaging techniques have allowed earlier and more accurate detection of cerebral deep medullary vein thrombosis and infarction. Our objective was to develop an MR imaging scoring system to evaluate the severity of white matter injury in neonates with deep medullary vein thrombosis and infarction.

Materials And Methods: This was a retrospective study of infants born ≥32 weeks' gestation (2000-2016) diagnosed with deep medullary vein thrombosis and infarction on neuroimaging in the first 30 days of life. Read More

ChemistryOpen 2019 Jan 15;8(1):41-44. Epub 2019 Jan 15.

Institute of Pharmacy University of Greifswald Friedrich-Ludwig-Jahn-Str. 17 17489 Greifswald Germany.

Neuronal voltage-gated potassium channels K7.2/K7.3 are sensitive to small-molecule drugs such as flupirtine, even though physiological response occurs in the absence of ligands. Read More

J Child Neurol 2019 Jan 15:883073818822361. Epub 2019 Jan 15.

1 Department of Pediatrics, Neurology, University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.

Objective:: To determine if patterns of hypoxic-ischemic brain injury on magnetic resonance imaging (MRI) in term newborns predict subsequent childhood epilepsy. Methods: This retrospective cohort study includes term newborns with encephalopathy (n = 181) born between 2004-2012 and admitted to British Columbia Children's Hospital. MRI was performed between 3 and 5 days of age. Read More

Neuropharmacology 2019 Jan 10;148:189-198. Epub 2019 Jan 10.

Department of Pharmacology and Physiology, Georgetown University, Washington, DC, United States; Department of Neuroscience, Georgetown University, Washington, DC, United States; Interdisciplinary Program in Neuroscience, Georgetown University, Washington, DC, United States. Electronic address:

A significant proportion of neonatal and childhood seizures are poorly controlled by existing anti-seizure drugs (ASDs), likely due to prominent differences in ionic homeostasis and network connectivity between the immature and mature brain. In addition to the poor efficacy of current ASDs, many induce apoptosis, impair synaptic development, and produce behavioral deficits when given during early postnatal development. There is growing interest in new targets, such as cannabidiol (CBD) and its propyl analog cannabidivarin (CBDV) for early life indications. Read More

Data Brief 2019 Feb 30;22:492-501. Epub 2018 Aug 30.

Division of Neonatology, Children׳s Hospital of Fudan University, Shanghai, China.

Mutations in and are associated with a wide spectrum of epilepsy related disorders in human. This dataset presented variants and clinical features of SCN1A and SCN2A genes. A total of 48 cases were presented, including 33 mutations and 14 mutations. Read More

Mol Genet Metab Rep 2019 Mar 20;18:11-13. Epub 2018 Dec 20.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Canada.

Newborns with cystic degeneration with or without intractable seizures should be investigated for inborn errors of metabolism, including molybdenum cofactor deficiency (MoCoD). MoCoD may present with non-specific hypoxic ischemic injury in the neonatal period with MRI showing extensive prenatally acquired cystic encephalomalacia involving grey and white matter. Most newborns with MoCoD will present with normal head size and brain appearance at birth and postnatally rapidly develop cystic encephalomalacia. Read More

J Neonatal Perinatal Med 2018 Dec 31. Epub 2018 Dec 31.

Department of Pediatrics, University of Saskatchewan, Division of Neonatology, SK, Canada.

Background: Mechanical ventilation (MV) causes discomfort but whether it causes pain remains controversial. Around the world neonatal intensive care units (NICU) often utilize narcotics and/or sedatives during MV of vulnerable infants yet the association with adverse neonatal outcomes has not been adequately addressed.

Objective: Test for associations between the use of narcotics/sedatives during MV and mortality/morbidity in preterm infants in a large infant cohort in Canada. Read More

Medicine (Baltimore) 2019 Jan;98(1):e14021

Institution of Pediatrics.

β-Ureidopropionase (βUP) deficiency is an autosomal recessive disease caused by abnormal changes in the pyrimidine-degradation pathway. This study aimed to investigate the mutation of β-ureidopropionase gene (UPB1) gene and clinical features of 7 Chinese patients with βUP deficiency.We reported 7 Chinese patients with βUP deficiency who were admitted at Tianjin Children's Hospital. Read More

Seizure 2019 Jan 11;64:77-83. Epub 2018 Dec 11.

Department of Emergency Medicine, Seoul National University Bundang Hospital, Seongnam, Republic of Korea.

Purpose: We performed a large, population-based study to analyze the risk factors of the febrile seizures and the subsequent afebrile epileptic seizures.

Methods: Relevant data from children born between 2002-2007 were retrieved from the Korean National Health Insurance Service-National Sample Cohort 2002-2013. Children who did not survive the first five years were excluded from the analysis. Read More

Clin Microbiol Infect 2018 Dec 27. Epub 2018 Dec 27.

Neonatal Intensive Care Unit, Créteil, France; Centre de Recherche Clinique, Centre Hospitalier Intercommunal de Créteil, Créteil, France; Université Paris Est Créteil, Créteil, France.

Objectives: Escherichiacoli is the second cause of bacterial meningitis in neonates. Despite the use for 35 years of third-generation cephalosporins (3GCs), high morbidity and mortality rates with E. coli meningitis continue to occur. Read More

Zh Nevrol Psikhiatr Im S S Korsakova 2018 ;118(11):35-42

Pirogov Russian National Research Medical University, Moscow, Russia.

Aim: To assess psychomotor development in infants with neonatal seizures (NS) born with different gestational age, by means of Bayley-III scales of infant and toddler development, in their corrected age of 1 year.

Material And Methods: The study included 52 infants, who had NS and were born with different gestational age: 28 weeks or less (n=26) - group I, 29-32 weeks (n=16) - group II, 33-36 weeks (n=3) - group III, 37-41 weeks (n=7) - group IV. The infants' neurodevelopment was evaluated in their corrected age of 1 year by means of N. Read More

J Matern Fetal Neonatal Med 2018 Dec 26:1-171. Epub 2018 Dec 26.

a Maine Medical Center , Portland , Maine , USA.

Introduction: Parents of infants who undergo therapeutic hypothermia experience emotional challenges that have not been fully characterized. Comprehensive understanding of the parental experience of hypothermia is needed to provide better care to the family of the infant. This study aimed to improve the understanding of the parental emotional experience of therapeutic hypothermia in the Neonatal Intensive Care Unit (NICU). Read More

Pediatr Res 2018 Dec 24. Epub 2018 Dec 24.

The Floating Hospital for Children at Tufts Medical Center and the Tufts Clinical and Translational Science Institute, Boston, MA, USA.

Although seizures have a higher incidence in neonates than any other age group and are associated with significant mortality and neurodevelopmental disability, treatment is largely guided by physician preference and tradition, due to a lack of data from well-designed clinical trials. There is increasing interest in conducting trials of novel drugs to treat neonatal seizures, but the unique characteristics of this disorder and patient population require special consideration with regard to trial design. The Critical Path Institute formed a global working group of experts and key stakeholders from academia, the pharmaceutical industry, regulatory agencies, neonatal nurse associations, and patient advocacy groups to develop consensus recommendations for design of clinical trials to treat neonatal seizures. Read More

JAMA Neurol 2018 Dec 21. Epub 2018 Dec 21.

Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany.

Importance: The identification and understanding of the monogenic causes of neurodevelopmental disorders are of high importance for personalized treatment and genetic counseling.

Objective: To identify and characterize novel genes for a specific neurodevelopmental disorder characterized by refractory seizures, respiratory failure, brain abnormalities, and death in the neonatal period; describe the outcome of glutaminase deficiency in humans; and understand the underlying pathological mechanisms.

Design, Setting, And Participants: We performed exome sequencing of cases of neurodevelopmental disorders without a clear genetic diagnosis, followed by genetic and bioinformatic evaluation of candidate variants and genes. Read More

Rev Chil Pediatr 2018 Oct;89(5):621-629

Departamento de Radiología, Pontificia Universidad Católica de Chile, Chile.

Introduction: Cerebral venous thrombosis (CVT) is an uncommon and poorly studied condition in the pediatric population.

Objectives: To describe and compare the clinical and radiological features of non-neonatal children with CVT according to age and to analyze their association with functional impairment or mortality at hospital discharge.

Methodology: An observational cohort study of chil dren older than 30 days with a first CVT diagnosed with imaging/venography by magnetic resonance (IMR/VMR). Read More

Epilepsia Open 2018 Dec 28;3(Suppl Suppl 2):169-179. Epub 2018 Oct 28.

VA Greater Los Angeles Health Care System Los Angeles California U.S.A.

Treatment of status epilepticus (SE) in infants and children is challenging. There is a recognition that a broad set of developmental processes need to be considered to fully appreciate the physiologic complexity of severe seizures, and seizure outcomes, in infants and children. The development and use of basic models to elucidate important mechanisms will help further our understanding of these processes. Read More