Search Our Scientific Publications & Authors

J Pediatr 2020 Jun 28. Epub 2020 Jun 28.

Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland. Electronic address:

Objectives: To identify candidate biomarkers in both plasma and cerebrospinal fluid (CSF) that are associated with neonatal encephalopathy severity measured by encephalopathy grade, seizures, brain injury by magnetic resonance imaging (MRI), and neurodevelopmental outcomes at 15-30 months.

Study Design: A retrospective cohort study of plasma (N=155, day of life 0-1) and CSF (n=30, day of life 0-7) from neonates with NE and healthy term neonates (N=30, ≥36 weeks' gestation) was conducted. We measured CNS necrosis (glial fibrillary acidic protein [GFAP], neurogranin [NRGN], Tau), inflammatory (IL-6, IL-8, IL-10), and trophic (brain-derived neurotrophic factor [BDNF], vascular endothelial growth factor [VEGF]) proteins. Read More

J Clin Neurophysiol 2020 Jun 25. Epub 2020 Jun 25.

Department of Neurological Sciences, University of Nebraska Medical Center, Omaha, Nebraska, U.S.A.

Purpose: Prefabricated arrays with a limited number of electrodes offer an opportunity to hasten the diagnosis of seizures; however, their accuracy to detect seizures is unknown. We examined the utility of two limited-montage EEG setups for the detection of nonconvulsive seizures.

Methods: Thirty previously interpreted EEG segments with nonconvulsive seizures from 30 patients and 60 segments with background slowing or normal EEG from 60 patients were rendered in a bipolar "double banana" montage, a double distance "neonatal" montage, and a circumferential "hatband" montage. Read More

Epilepsy Behav 2020 Jun 27;111:107187. Epub 2020 Jun 27.

Services d'explorations fonctionnelles, Centre de médecine du sommeil, Hôpital Antoine-Béclère, AP-HP, Clamart, France; Service de pédiatrie, Centre hospitalier intercommunal André Grégoire, Montreuil, France. Electronic address:

Introduction: Sodium voltage-gated channel alpha subunit 2 (SCN2A) gene encodes the Nav1.2 subunit of voltage-gated sodium channel in pyramidal neurons. SCN2A gain-of-function mutations are identified more and more often with gene panels and whole exome sequencing. Read More

J Vis Exp 2020 Jun 11(160). Epub 2020 Jun 11.

Department of Pediatrics, University of Virginia; Department of Neurology, University of Virginia;

Hypoxia ischemia is the most common cause of neonatal seizures. Animal models are crucial for understanding the mechanisms and physiology underlying neonatal seizures and hypoxia ischemia. This manuscript describes a method for continuous video electroencephalogram (EEG) monitoring in neonatal mice to detect seizures and analyze EEG background during hypoxia ischemia. Read More

Epilepsy Res 2020 Jun 18;166:106398. Epub 2020 Jun 18.

R. Madhavan Nayar Center for Comprehensive Epilepsy Care, Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.

Introduction: A paucity of literature exists on genotype- phenotype correlates of 'unknown-etiology' infantile-onset developmental-epileptic encephalopathies (DEE) from India. The primary objective was to explore the yield of genetic testing in identifying potential disease causing variants in electro-clinical phenotypes of DEE METHODS: An observational hospital-based study was undertaken on children with unexplained refractory seizure-onset ≤12 months age and developmental delay, whose families consented and underwent genetic testing during a three year time period (2016-2018) by next-generation sequencing (NGS) or multiplex ligand protein amplification. Yield was considered based on demonstration of pathogenic/likely pathogenic variants only and variants of unknown significance (VUS) were documented. Read More

Pediatr Crit Care Med 2020 Jun 25. Epub 2020 Jun 25.

Department of Pediatrics, Division of Pediatric Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA.

Objectives: To evaluate the risk factors for mortality in pediatric extracorporeal membrane oxygenation patients.

Design: Retrospective, single-center study.

Setting: PICU and Pediatric cardiothoracic ICU in an urban, quaternary care center. Read More

Int J Epidemiol 2020 Jun 26. Epub 2020 Jun 26.

Division of Clinical Epidemiology, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden.

Background: Little is known about the associations between maternal body mass index (BMI) and asphyxia-related morbidity in preterm infants (<37 weeks). We aimed to investigate associations between maternal BMI in early pregnancy and severe asphyxia-related neonatal complications in preterm infants (<37 weeks) and to examine whether possible associations were mediated by overweight- or obesity-related complications.

Methods: In this Swedish population-based cohort of 62 499 singleton non-malformed preterm infants born from 1997 to 2011, risks of low Apgar scores (0-3) at 5 and 10 minutes, neonatal seizures and intraventricular haemorrhage (IVH) were estimated through two analytical approaches. Read More

Seizure 2020 Jun 18;80:161-165. Epub 2020 Jun 18.

Neurology Department, Ospedale Pediatrico Bambino Gesù, Roma, Italy. Electronic address:

Objective: The aim of our study was to evaluate the relationship between seizure semiology and etiological factors in our population of neonates, in pointing out that specific kinds of clinical presentation are strictly related to specific etiologies.

Methods: We selected neonates which presented clinical seizures during video-EEG monitoring performed in Neonatal and Neurological Units between 2010 and 2017. We excluded patients with electrographic seizures only or video-EEGs of poor quality. Read More

Int Immunopharmacol 2020 Jun 22;86:106720. Epub 2020 Jun 22.

Department of Pharmacodynamics and Toxicology, School of Pharmacy, Mashhad University of Medical Sciences, Mashhad, Iran.

Neuroinflammation has a key role in seizure generation and perpetuation in the neonatal period, and toll-like receptor 4 (TLR4) pathway has a prominent role in neuroinflammatory diseases. Administration of antioxidants and targeting TLR4 in the embryonic period may protect rat offspring against the next incidence of febrile seizure and its harmful effects. Curcumin and hesperidin are natural compounds with anti-inflammatory and antioxidant properties and have an inhibitory action on TLR4 receptors. Read More

J Appl Physiol (1985) 2020 Jun 25. Epub 2020 Jun 25.

Facultad de Medicina, Universidad de Chile, Instituto de Ciencias Biomédicas (ICBM).

Most mammals have a poor tolerance to hypoxia, and prolonged O restriction can lead to organ injury, particularly during fetal and early postnatal life. Nevertheless, the llama (Lama Glama) has evolved efficient mechanisms to adapt to acute and chronic perinatal hypoxia. One striking adaptation is the marked peripheral vasoconstriction measured in the llama fetus in response to acute hypoxia, which allows efficient redistribution of cardiac output towards the fetal heart and adrenal glands. Read More

Nurs Child Young People 2020 Jun 22. Epub 2020 Jun 22.

Crawford-McKenzie, Colsterworth, Lincolnshire, England.

This article is the fourth in a series on the biological basis of child health. It explains the embryological development of the nervous system and describes some of the anatomical and physiological features of the central nervous system, which is comprised of the brain and spinal cord. It also outlines the principles of neurological assessment in infants and children, before detailing the presentation and management of three conditions that can affect the central nervous system in this patient population - seizures, meningitis and raised intracranial pressure. Read More

Epilepsia 2020 Jun 19. Epub 2020 Jun 19.

Division of Pediatric Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland.

Objective: Neonatal status epilepticus (SE) is a life-threatening medical emergency. Unfortunately, up to 50% of neonates with SE are resistant to current antiseizure drugs, highlighting the need for better treatments. This study aims to explore a novel metabolic approach as a potential alternative treatment to control neonatal SE, using the glycolytic inhibitor 2-deoxyglucose (2-DG). Read More

Child Neurol Open 2020 Jan-Dec;7:2329048X20931361. Epub 2020 Jun 8.

Division of Child Neurology, Department of Neurology, Stanford University School of Medicine, CA, USA.

Mutations in the SLC13A5 gene, a sodium citrate cotransporter, cause a rare autosomal recessive epilepsy (EIEE25) that begins during the neonatal period and is associated with motor and cognitive impairment. Patient's seizure burden, semiology, and electroencephalography (EEG) findings have not been well characterized. Data on 23 patients, 3 months to 29 years of age are reported. Read More

J Clin Neurophysiol 2020 Jun 9. Epub 2020 Jun 9.

Division of Neurology, Departments of Neurology and Pediatrics, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, U.S.A.

Purpose: Neonatal seizures are common and difficult to identify clinically because the majority are subclinical and correct identification of electroclinical seizures based on semiology is unreliable. Therefore, continuous EEG monitoring (CEEG) is critical for seizure identification in neonates and is recommended as the gold standard method in American Clinical Neurophysiology Society guidelines. Despite these recommendations, barriers to implementing widespread CEEG exist. Read More

Seizure 2020 Jun 5;80:71-74. Epub 2020 Jun 5.

Department of Pediatric Neurology, Ege University, Izmır, Turkey.

Purpose: This study aims to compare the neurocognitive outcome in term infants who were treated using phenobarbital (PB) and levetiracetam (LEV) monotherapy for neonatal clinical seizures.

Methods: Term infants who were treated using PB or LEV monotherapy as the first-line anti-epileptic treatment for neonatal clinical seizures and followed-up in a pediatric neurology outpatient clinic were enrolled in this study. Neurodevelopmental outcome assessments were carried out using the Bayley Scales of Infant Development, third edition (BSID-III), including cognitive, receptive language, expressive language, fine motor and gross motor subscales. Read More

Pan Afr Med J 2020 24;35:53. Epub 2020 Feb 24.

Department of pediatrics, Military Teaching Hospital Mohammed V, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.

Neonatal hypoglycemia (NH) is one of the most common abnormalities encountered in the newborn. Hypoglycemia continues to be an important cause of morbidity in neonates and children. Prompt diagnosis and management of the underlying hypoglycemia disorder is critical for preventing brain damage and improving outcomes. Read More

BMC Pregnancy Childbirth 2020 Jun 15;20(1):362. Epub 2020 Jun 15.

Ministry of Health and Social Welfare, Monrovia, Liberia.

Background: In low-resource settings with few health workers, Fetal Heart Rate (FHR) monitoring in labour can be inconsistent and unreliable. An initiative to improve fetal monitoring was implemented in two public hospitals in rural Liberia; the country with the second lowest number of midwives and nurses in the world (1.007 per 10,000 of the population). Read More

Brain Dev 2020 Jun 9. Epub 2020 Jun 9.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-2606, Japan.

Aim: To describe beneficial effects of callosotomy on KCNQ2-related intractable epilepsy.

Case Report: Our patient was a 10-year-old girl who had developed epilepsy during the neonatal period, accompanied by a suppression-burst pattern on the electroencephalography (EEG). The patient showed profound psychomotor developmental delay since early infancy. Read More

Eur J Med Genet 2020 Jun 10;63(9):103970. Epub 2020 Jun 10.

Hackensack University Medical Center, Hackensack, NJ, USA; Northeast Regional Epilepsy Group, Hackensack, NJ, USA; Hackensack Meridian School of Medicine, Nutley, NJ, USA.

Pathogenic variants in AIMP1 gene are rare causes of neurologic disorders. Homozygous frameshift and nonsense variants in AIMP1 have been described in severe neurodegenerative disease. This is the third report of a homozygous nonsense variant in AIMP1 [c. Read More

Ann Clin Transl Neurol 2020 Jun 9;7(6):1013-1028. Epub 2020 Jun 9.

Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.

Objective: We describe the clinical characteristics and genetic etiology of several new cases within the ACO2-related disease spectrum. Mitochondrial aconitase (ACO2) is a nuclear-encoded tricarboxylic acid cycle enzyme. Homozygous pathogenic missense variants in the ACO2 gene were initially associated with infantile degeneration of the cerebrum, cerebellum, and retina, resulting in profound intellectual and developmental disability and early death. Read More

Pflugers Arch 2020 Jun 6. Epub 2020 Jun 6.

Section of Pharmacology, Department of Neuroscience, University of Naples, "Federico II", Via Pansini 5, 80131, Naples, Italy.

Seizures are the most common neurological manifestation in the newborn period, with an estimated incidence of 1.8-3.5 per 1000 live births. Read More

Arch Dis Child Fetal Neonatal Ed 2020 Jun 5. Epub 2020 Jun 5.

Family Health Care Nursing, University of California San Francisco School of Nursing, San Francisco, California, USA.

Objective: Neonates with seizures have a high risk of mortality and neurological morbidity. We aimed to describe the experience of parents caring for neonates with seizures.

Design: This prospective, observational and multicentre () study enrolled parents of neonates with acute symptomatic seizures. Read More

PLoS One 2020 1;15(6):e0234082. Epub 2020 Jun 1.

University of Barcelona, Barcelona, Spain.

Objectives: To investigate whether cerebrospinal fluid levels of neuron-specific enolase (CSF-NSE) during the first 72 hours correlate with other tools used to assess ongoing brain damage, including clinical grading of hypoxic-ischemic encephalopathy (HIE), abnormal patterns in amplitude integrated electroencephalography (aEEG), and magnetic resonance imaging (MRI), as well as with the neurodevelopmental outcomes at two years of age.

Material And Methods: Prospective observational study performed in two hospitals between 2009 and 2011. Forty-three infants diagnosed with HIE within 6 hours of life were included. Read More

Pediatr Emerg Med Pract 2020 06 2;17(6):1-20. Epub 2020 Jun 2.

Yale New Haven Children's Hospital, New Haven, CT.

Neonatal seizures are associated with high morbidity and mortality, but they can be difficult to diagnose because they often present with subtle signs and symptoms. Initial management goals in the emergency department include patient stabilization, seizure cessation, and determination of the etiology; identification of life-threatening treatable causes of the seizures should be prioritized. Further management depends on the history and physical examination findings, laboratory testing results, and imaging studies. Read More

Obstet Gynecol 2020 Jun;135(6):1417-1425

Department of Obstetrics, Gynecology, and Reproductive Sciences, McGovern Medical School, the University of Texas Health Science Center at Houston, Houston, Texas.

Objective: To examine risk factors and adverse outcomes for neonatal-maternal dyads among low-risk pregnancies at term with subsequent neonatal seizures.

Methods: United States vital statistics data sets were used for this retrospective study. Inclusion criteria were low-risk women (without hypertensive disease or diabetes) with nonanomalous singleton pregnancies, who delivered after labor at 37-41 weeks of gestation. Read More

Int J Mol Sci 2020 May 24;21(10). Epub 2020 May 24.

Department of Medical Science, Chungnam National University, Daejeon 35015, Korea.

Neonatal ischemic stroke has a higher incidence than childhood stroke. Seizures are the first sign for the need for clinical assessment in neonates, but many questions remain regarding treatments and follow-up modalities. In the absence of a known pathophysiological mechanism, only supportive care is currently provided. Read More

Eur J Med Genet 2020 Aug 23;63(8):103957. Epub 2020 May 23.

Pediatric Clinic, Department of Clinical and Experimental Medicine, University Hospital A.U.O. "Policlinico-Vittorio Emanuele", Catania, Italy.

Alternating Hemiplegia of Childhood (AHC) is a rare disorder characterized by frequent, transient attacks of hemiplegia involving either side of the body or both in association to several other disturbances including dystonic spells, abnormal ocular movements, autonomic manifestations, epileptic seizures and cognitive impairment. The clinical manifestations usually start before the age of 18 months. Two forms of the disorder known as AHC-1 (MIM#104290) and AHC-2 (MIM#614820) depends on mutations in ATP1A2 and ATP1A3 genes respectively, with over 75% of AHC caused by a mutation in the ATP1A3 gene. Read More

Epilepsia 2020 Jun 26;61(6):1142-1155. Epub 2020 May 26.

Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.

Objective: To define the phenotypic spectrum of phosphatidylinositol glycan class A protein (PIGA)-related congenital disorder of glycosylation (PIGA-CDG) and evaluate genotype-phenotype correlations.

Methods: Our cohort encompasses 40 affected males with a pathogenic PIGA variant. We performed a detailed phenotypic assessment, and in addition, we reviewed the available clinical data of 36 previously published cases and assessed the variant pathogenicity using bioinformatical approaches. Read More

J Pediatr 2020 Jun;221:64-71.e4

Departments of Neurology and Pediatrics, UCSF Benioff Children's Hospital, University of California San Francisco, San Francisco, CA.

Objective: To characterize and determine risk factors for key dimensions of well-being at hospital discharge in families of neonates with acute symptomatic seizures.

Study Design: This prospective, observational cohort study enrolled 144 parent-infant dyads among neonates with acute symptomatic seizures from 9 pediatric hospitals in the Neonatal Seizure Registry. One parent per family completed a discharge survey, which included measures of anxiety and depression, health-related quality of life, and impact on the family. Read More

Seizure 2020 Jul 20;79:90-94. Epub 2020 May 20.

Neurology Division, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.

Purpose: Neonatal hypoglycemic brain injury (NHBI) is being increasingly recognized as an important cause of drug resistant childhood epilepsy in low resource settings. We report the electro-clinical spectrum of children with epilepsy secondary to NHBI.

Methods: This was a retrospective study of children enrolled in the Epilepsy Clinic from January 2009 to August 2019. Read More

Birth Defects Res 2020 May 22. Epub 2020 May 22.

Department of Neonatology, Sri Ramachandra Medical College and Research Institute, Chennai, Tamil Nadu, India.

Neonatal encephalopathy manifests with altered sensorium, tone abnormalities, and often with abnormal movements and seizures. The causes are heterogeneous and many. We report a late preterm neonate who presented with depressed sensorium, cranial nerve abnormalities, mixed hypertonia and hypotonia, and respiratory failure. Read More

J Pediatr Neurosci 2020 Jan-Mar;15(1):15-20. Epub 2020 Mar 19.

Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey.

Context: Seizures are the most frequent neurological disturbance in the neonatal period, and there are no evidence-based guidelines for the treatment of neonatal seizures. Here we report a study on the use of levetiracetam as second-line therapy in the treatment of seizures in term and preterm neonates.

Aim: The aim of this study was to assess the efficacy and safety of levetiracetam for seizures of term and preterm neonates. Read More

JCI Insight 2020 Jun 18;5(12). Epub 2020 Jun 18.

Neuroscience Laboratory, Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA.

Refractory neonatal seizures do not respond to first-line antiseizure medications like phenobarbital (PB), a positive allosteric modulator for GABAA receptors. GABAA receptor-mediated inhibition is dependent upon electroneutral cation-chloride transporter KCC2, which mediates neuronal chloride extrusion and its age-dependent increase and postnatally shifts GABAergic signaling from depolarizing to hyperpolarizing. Brain-derived neurotropic factor-tyrosine receptor kinase B activation (BDNF-TrkB activation) after excitotoxic injury recruits downstream targets like PLCγ1, leading to KCC2 hypofunction. Read More

Acta Neurol Belg 2020 May 18. Epub 2020 May 18.

Division of Pediatric Neurology, Department of Pediatrics, Ege University Medical Faculty, Izmir, Turkey.

Appropriate treatment of neonatal seizures with an effective therapy is important in reducing long-term neurologic disabilities. Sixty-seven neonates, who received intravenous (IV) levetiracetam (LEV) as first-line therapy for treating seizures between 2013 and 2017 were evaluated retrospectively to investigate the efficacy of LEV and its neurodevelopmental outcome at 12 months of age. Of the 67 neonates (44 preterm and 23 term babies) evaluated for seizures, 55 (82%) had a defined etiology. Read More

Placenta 2020 05 27;94:39-43. Epub 2020 Mar 27.

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

Introduction: Two possible causative pathways have been suggested to participate in the development of placental abruption (PA), an acute inflammatory pathway and placental vascular derived, a chronic pathway. We aimed to study the impact of the inflammatory pathway on maternal and neonatal outcome.

Methods: The computerized medical files and placental reports of all pregnancies diagnosed with PA, between 11/2008-1/2019, at 24-42 weeks, were reviewed. Read More

BJOG 2020 May 16. Epub 2020 May 16.

Institute for Women's Health, University College London, London, UK.

Objective: To develop a core outcome set for pre-eclampsia.

Design: Consensus development study.

Setting: International. Read More

Front Neurol 2020 28;11:322. Epub 2020 Apr 28.

Department of Neurology, Stony Brook Medicine, Stony Brook, NY, United States.

In the United States, there are over one million women with epilepsy (WWE) in their childbearing years. Pregnancy can be challenging for this population. A number of international registries have documented that children born to these women are at increased risk for major congenital malformations (MCM), lower intelligence quotient scores and neurodevelopmental disorders, when the mother is managed on antiseizure medications (ASMs). Read More

Euro Surveill 2020 05;25(18)

The members of the Italian SITIP-SIP SARS-CoV-2 paediatric infection study group are listed at the end of this article.

Data on features of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in children and adolescents are scarce. We report preliminary results of an Italian multicentre study comprising 168 laboratory-confirmed paediatric cases (median: 2.3 years, range: 1 day-17. Read More

Epilepsy Behav Rep 2020 24;14:100357. Epub 2020 Mar 24.

Department of Paediatrics, Aster Malabar Institute of Medical Sciences, Kozhikode, Kerala, India.

A 6-year-old girl presented with history of infantile onset epileptic encephalopathy and developmental delay. She had polymorphic seizures that were refractory to regular anti-seizure medication. Incomplete control of seizures was achieved on starting pyridoxine, riboflavin and thiamine. Read More

Oxf Med Case Reports 2020 Mar 6;2020(3):omaa008. Epub 2020 May 6.

Department of Neurology, Gunma Children's Medical Centre, Shibukawa, Gunma, Japan.

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal-recessive disorder typically presenting with neonatal seizures and is sometimes difficult to diagnose, because the clinical features mimic those of birth asphyxia. A Japanese newborn boy presented with pulmonary haemorrhage and convulsions on the day of birth. Brain computed tomography showed diffuse, but mild, low-density cerebral white matter and a thin subdural hematoma in the posterior fossa. Read More

Pediatrics 2020 Jun 8;145(6). Epub 2020 May 8.

Department of Neurosciences, School of Medicine, University of California, San Diego and Rady Children's Hospital-San Diego, San Diego, California;

Background And Objectives: There are no US Food and Drug Administration-approved therapies for neonatal seizures. Phenobarbital and phenytoin frequently fail to control seizures. There are concerns about the safety of seizure medications in the developing brain. Read More

BMC Med Genet 2020 May 7;21(1):96. Epub 2020 May 7.

Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.

Background: Joubert syndrome (JBTS) is a genetically heterogeneous group of neurodevelopmental syndromes caused by primary cilia dysfunction. Usually the neurological presentation starts with abnormal neonatal breathing followed by muscular hypotonia, psychomotor delay, and cerebellar ataxia. Cerebral MRI shows mid- and hindbrain anomalies including the molar tooth sign. Read More

JAMA Netw Open 2020 May 1;3(5):e204096. Epub 2020 May 1.

Rehabilitation Center Menina dos Olhos, Altino Ventura Foundation, Recife, Brazil.

Importance: Although birth defects in children with congenital Zika syndrome (CZS) are expected to result in significant intellectual disabilities, the extent of delay and profiles of development have yet to be fully described.

Objectives: To describe the neurodevelopmental profiles of children with CZS and to test whether prenatal and postpartum characteristics were associated with the severity of developmental delays.

Design, Setting, And Participants: This is a case series of the trajectories of developmental, behavioral, and medical needs of 121 young children with CZS who were assessed at a specialized rehabilitation center in Recife, Brazil, beginning in January 2018 as part of 5-year longitudinal study. Read More

J Neurosci Rural Pract 2020 Apr 4;11(2):325-328. Epub 2020 Apr 4.

Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.

Incontinentia pigmenti (IP) or Bloch-Sulzberger's disease is a rare neurocutaneous syndrome with dermatological, neurologic, and systemic manifestations including retinal, dental and hair abnormalities. It follows X-linked dominant inheritance and predominantly affects female children. The characteristic evolution of skin lesions in four stages is a hallmark diagnostic feature of the disease. Read More

Front Neurol 2020 17;11:263. Epub 2020 Apr 17.

Department of Pediatrics, Peking University First Hospital, Beijing, China.

Mutations in are related to a spectrum of neonatal epileptic phenotypes. Here we report a case of KCNQ2-related neonatal epileptic encephalopathy (KCNQ2-NEE) that is complicated by an incidentally found ventricular tachycardia. An infant boy presented with very early onset refractory focal tonic seizures and developmental delay, and was diagnosed with epilepsy. Read More

Br J Pharmacol 2020 Apr 28. Epub 2020 Apr 28.

Institute of Pharmacology and Toxicology, NHC and CAMS Key Laboratory of Medical Neurobiology, College of Pharmaceutical Sciences, Zhejiang University, Hangzhou, China.

Background And Purpose: Febrile seizures (FS), the most common seizures in childhood and often accompanied by later epileptogenesis, are not well controlled. Inflammatory processes have been implicated in the pathophysiology of epilepsy. However, whether caspase-1 is involved in FS generation and could be a target for the treatment of FS is still unclear. Read More

Int J Neurosci 2020 Apr 29:1-4. Epub 2020 Apr 29.

Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran.

Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) is a severe autosomal recessive epileptic encephalopathy characterized by microcephaly, rigidity, intractable focal seizures, apnea, and bradycardia at or soon after birth. RMFSL is related to BRCA1-associated ATM activator 1 () gene mutations. An Iranian couple with history of infant death due to RMFSL was referred to our genetics lab for specialized genetic counseling and testing. Read More

Brain Dev 2020 Aug 23;42(7):529-533. Epub 2020 Apr 23.

Department of Pediatrics, JCHO Gunma Central Hospital, Gunma, Japan.

Background: A report presenting five heterozygous de novo variants in VAMP2 in unrelated individuals with a neurodevelopmental disorder characterized by axial hypotonia, intellectual disability, and autistic features was first published in April 4, 2019.

Case Report: We report the case of a male child with VAMP2 variant who was delivered at 38 weeks and 4 days without neonatal asphyxia. At 4 months of age he showed hypotonia and no visual pursuit and fixation. Read More

Medicine (Baltimore) 2020 Apr;99(17):e18704

Department of Pharmacy, First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.

Background: Hypoxic ischemic encephalopathy (HIE) is brain injury caused by different reasons and the most common diagnosed is neonatal HIE. Most of the existing treatments have their own shortcomings or there are still some unexplained mechanisms in it. Topiramate (TPM) is a new drug for the treatment for seizures in neonates with HIE, but is currently used off-label. Read More

Am J Perinatol 2020 Apr 22. Epub 2020 Apr 22.

Department of Women's Health, The University of Texas at Austin, Dell Medical School, Austin, Texas.

Objective:  The aim of this study is to determine the association between mild acidemia (umbilical artery [UA] pH: 7.11-7.19) and neonatal morbidity in neonates at term. Read More