Search Our Scientific Publications & Authors

Epilepsy Behav Rep 2021 3;16:100443. Epub 2021 Apr 3.

Pediatric Neurology, Department of Pediatrics, Kalawati Saran Children's Hospital, Delhi, India.

Pyridox(am)ine- 5- phosphate Oxidase deficiency (PNPO) is a rare cause of neonatal metabolic encephalopathy associated with refractory status epilepticus. We report a case of a premature neonate presenting with drug-resistant seizures beginning at 2 hours of life. The baby showed initial transient response to pyridoxine followed by recurrence. Read More

Front Pediatr 2021 22;9:671732. Epub 2021 Apr 22.

Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China.

Eyelid myoclonus with or without absence epilepsy is a rare and usually misdiagnosed disease in the neurology department. It is an idiopathic general epileptic syndrome, the onset period is 6-8 years, and is more common in girls. It is characterized by rapid abnormal eye blinking, accompanied by upward rolling of the eye and slight backward movement of the head, with eye closure sensitivity and photosensitivity. Read More

Brain Dev 2021 May 3. Epub 2021 May 3.

Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan. Electronic address:

Background: Transient periictal MRI abnormalities (TPMA) are caused by seizures, and may completely or partially reverse within a few days following seizure. Although TPMA are usually observed in patients with status epilepticus (SE), they have also been rarely reported after isolated/recurrent seizures not fulfilling the criteria for SE. Herein, we present a case of a 1-year-old girl with TPMA. Read More

J Am Coll Radiol 2021 May;18(5S):S199-S211

Specialty Chair, Riley Hospital for Children Indiana University, Indianapolis, Indiana.

In children, seizures represent an extremely heterogeneous group of medical conditions ranging from benign cases, such as a simple febrile seizure, to life-threatening situations, such as status epilepticus. Underlying causes of seizures also represent a wide range of pathologies from idiopathic cases, usually genetic, to a variety of acute and chronic intracranial or systemic abnormalities. This document discusses appropriate utilization of neuroimaging tests in a child with seizures. Read More

J Pediatr Neurosci 2020 Oct-Dec;15(4):375-378. Epub 2021 Jan 19.

Department of Pediatrics and Child Health, Aga Khan University Karachi, Karachi, Pakistan.

Background: Critically ill individuals have an increased risk of acute symptomatic seizures secondary to systemic illnesses; unrecognized or untreated seizures can quickly convert into status epilepticus, which is associated with high morbidity and mortality.

Objective: The aim of this study was to determine frequency, etiology, and outcome of seizures in critical ill children admitted in intensive care unit of a tertiary care hospital.

Materials And Methods: Retrospective review of medical records of all children admitted in pediatric intensive care unit (PICU) of the Aga Khan University from January 2016 to December 2018 and who had a new-onset seizure irrespective of underlying diagnosis was carried out after ethical review committee approval. Read More

Neurol Genet 2021 Apr 18;7(2):e579. Epub 2021 Mar 18.

Research Institute of the McGill University Health Centre (K.M.), Montreal, PQ; Division of Child Neurology (K.M.), Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, PQ; Department of Neurology & Neurosurgery (K.M.), Montreal Children's Hospital, McGill University, Montreal, PQ; Child Neurology and Psychiatry (C.M.), Salesi Pediatric Hospital, United Hospitals of Ancona, Ancona, Italy; Division of Genetic Medicine (G.L.C., J.N., H.C.M.), Department of Pediatrics, University of Washington, Seattle, WA; Department of Neurology (A.M.), Great Ormond Street Hospital for Children, London, UK; Developmental Neurosciences Programme (A.M.), UCL Great Ormond Street Institute of Child Health, London, UK; Neurology Network Melbourne (J.P.), Melbourne, Victoria, Australia; Murdoch Children's Research Institute (C.S., I.E.S.), Parkville, Victoria, Australia; Department of Paediatrics and Child Health (T.S.), School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand; Division of Neurology (S.M.), Department of Pediatrics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada; Neurology Unit and Neurogenetic Laboratories (C.B., A.R., R.G.), Meyer Children's Hospital, Florence, Italy; Department of Clinical Genetics (R.H.S.), Great Ormond Street Hospital, London, UK; Epilepsy Research Centre (I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia; Department of Paediatrics (I.E.S.), Royal Children's Hospital, The University of Melbourne, Parkville, Victoria, Australia; and The Florey Institute of Neuroscience and Mental Health (I.E.S.), Heidelberg, Victoria, Australia.

Objective: To describe the phenotypic spectrum in patients with MBD5-associated neurodevelopmental disorder (MAND) and seizures; features of MAND include intellectual disability, epilepsy, psychiatric features of aggression and hyperactivity, and dysmorphic features including short stature and microcephaly, sleep disturbance, and ataxia.

Methods: We performed phenotyping on patients with deletions, duplications, or point mutations and a history of seizures.

Results: Twenty-three patients with MAND and seizures were included. Read More

ASN Neuro 2021 Jan-Dec;13:17590914211007273

Department of Cell Biology & Anatomy, New York Medical College, Valhalla, New York, United States.

Pannexin1 (Panx1) is an ATP release channel expressed in neurons and astrocytes that plays important roles in CNS physiology and pathology. Evidence for the involvement of Panx1 in seizures includes the reduction of epileptiform activity and ictal discharges following Panx1 channel blockade or deletion. However, very little is known about the relative contribution of astrocyte and neuronal Panx1 channels to hyperexcitability. Read More

Zhonghua Er Ke Za Zhi 2021 May;59(5):400-406

Department of Pediatrics, Hunan Intellectual and Developmental Disabilities Research Center, Xiangya Hospital of Central South University, Changsha 410008, China.

To investigate the clinical characteristics of R403C variant in DNM1L gene caused encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (EMPF1). The clinical data of three patients, who carried R403C variant in the DNM1L gene, diagnosed at Xiangya Hospital from February 2018 to February 2020 were retrospectively summarized. Literature reviewing was performed by taking "DNM1L" or "encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1" as keywords for searching in online Mendelian inheritance in man (OMIM), PubMed, China national knowledge infrastructure (CNKI), and Wanfang data knowledge service platform up to July 2020. Read More

Front Genet 2021 8;12:607965. Epub 2021 Apr 8.

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

Background: Recently, the electroencephalogram pattern of electrical status epilepticus during sleep (ESES) had been reported in some genetic disorders, and most of them were noted with developmental and epileptic encephalopathy (DEE) or epileptic encephalopathy (EE). This study aimed to determine the genetic etiologies and clinical characteristics of ESES in DEE/EE.

Methods: We performed a cohort study in cases of DEE or EE with ESES. Read More

Indian J Pediatr 2021 Apr 21. Epub 2021 Apr 21.

Department of Pediatrics, Asian Institute of Medical Sciences, Faridabad, Delhi NCR, 121001, India.

Epilepsy Behav 2021 May 16;118:107964. Epub 2021 Apr 16.

Neurology Division, Department of Pediatrics, Phramongkutklao Hospital, Bangkok, Thailand. Electronic address:

Status epilepticus (SE) and acute repetitive seizure (ARS) are emergency conditions associated with significant morbidity and mortality in children. Anti-seizure medications (ASMs) need to terminate seizures to prevent brain damage and death. Common challenges that delay the management of SE and ARS in children at Phramongkutklao hospital are difficulty in accessing intravenous route for drug administration and inadequate number of intensive care units (which will be required in case of the use of adverse events to anesthetic ASMs). Read More

Neurol Clin Pract 2021 Apr;11(2):e170-e173

Child Neuropsychiatry (FD, TLB, FD, GC), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona; Clinical and Experimental Medicine PhD Program (TLB), University of Modena and Reggio Emilia; Child Neuropsychiatry Unit (FD, E. Fontana, E. Fiorini, MM, GC), and Pediatric Intensive Care Unit (PB), University-Hospital of Verona; and Center for Research on Epilepsies in Pediatric Age (CREP) (BDB), Verona, Italy.

New-onset refractory status epilepticus (NORSE) is rare condition, and sharing knowledge is vital in its management, based on strict collaboration between multiple specialists, continuous EEG (c-EEG) monitoring, and prompt therapy modification. The coronavirus disease 2019 (COVID-19) pandemic challenged many of these established practices because of "social distancing" measures, making it necessary to work around physical restrictions. We report a case of a 10-year-old with NORSE admitted in a pediatric intensive-care unit and monitored with c-EEG and amplitude-integrated EEG. Read More

JCI Insight 2021 May 10;6(9). Epub 2021 May 10.

Department of Neuropharmacology, Interdisciplinary Graduate School of Medicine.

Extensive activation of glial cells during a latent period has been well documented in various animal models of epilepsy. However, it remains unclear whether activated glial cells contribute to epileptogenesis, i.e. Read More

Cureus 2021 Feb 28;13(2):e13612. Epub 2021 Feb 28.

Pediatrics, Emergency Clinical Hospital for Children, Cluj-Napoca, ROU.

In this report, we present the case of a one-year-old female patient with a history of febrile seizures, which was characterized by multiple seizures during hot baths and more than one episode of status epilepticus. Dravet syndrome was suspected due to the clinical context of the seizures and was confirmed by genetic testing. The brain MRI was found to be normal. Read More

Am J Med Genet A 2021 Apr 2. Epub 2021 Apr 2.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

Biallelic loss-of-function (LoF) of SLC13A5 (solute carrier family 13, member 5) induced deficiency in sodium/citrate transporter (NaCT) causes autosomal recessive developmental epileptic encephalopathy 25 with hypoplastic amelogenesis imperfecta (DEE25; MIM #615905). Many pathogenic SLC13A5 single nucleotide variants (SNVs) and small indels have been described; however, no cases with copy number variants (CNVs) have been sufficiently investigated. We describe a consanguineous Iraqi family harboring an 88. Read More

Pediatric Health Med Ther 2021 25;12:151-159. Epub 2021 Mar 25.

Medical Officer, Emergency Department, Command Hospital (Northern Command), Jammu & Kashmir, India.

Purpose: Current recommendations for 'Febrile seizures' management include emergency first aid and treatment along with intermittent prophylaxis. Evidence of practices, efficacy, side-effects, and complications should lead to refined and rational management strategies.

Patients And Methods: Study of cases referred and treated at a tertiary level hospital, providing referral services to a large state in India. Read More

J Emerg Nurs 2021 Mar 27. Epub 2021 Mar 27.

The need for virtual education for nursing staff has dramatically increased because of social distancing measures after the coronavirus disease pandemic. Emergency departments in particular need to educate staff on caring for patients with coronavirus disease while concurrently continuing to ensure education related to core topic areas such as pediatric assessment and stabilization. Unfortunately, many nurse educators are currently unable to provide traditional in-person education and training to their nursing staff. Read More

Childs Nerv Syst 2021 Mar 29. Epub 2021 Mar 29.

Department of Neurology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, 136 Zhong shan Er Road, Yu Zhong District, Chongqing, 400014, China.

Objective: Drug transporters are involved in the drug resistance of individuals with drug-resistant epilepsy by influencing the intracerebral transport of antiepileptic drugs (AEDs). The expression of drug transporters is associated with microRNAs. We previously revealed that miR-23a-3p levels were elevated in the blood of patients with intractable epilepsy. Read More

Medicine (Baltimore) 2021 Mar;100(12):e25171

Department of Pediatrics, Pusan National University Children's Hospital, Pusan National University School of Medicine, Yangsan, Korea.

Rationale: Acute necrotizing encephalopathy (ANE) is a specific type of encephalopathy usually followed by febrile infection. It has an aggressive clinical course; however, it usually does not recur after recovery in cases of spontaneous ANE. Nevertheless, there are several studies reporting recurrences in familial ANE with RAN-binding protein 2 (RANBP2) mutation. Read More

Exp Neurol 2021 Mar 18;341:113703. Epub 2021 Mar 18.

Cincinnati Children's Hospital Medical Center, Department of Anesthesia, USA; Cincinnati Children's Hospital Medical Center, Department of Pediatrics, USA; University of Cincinnati, Medical Scientist Training Program, USA; University of Cincinnati, Neuroscience Graduate Program, USA. Electronic address:

Objective: Glucocorticoid levels rise rapidly following status epilepticus and remain elevated for weeks after the injury. To determine whether glucocorticoid receptor activation contributes to the pathological sequelae of status epilepticus, mice were treated with a novel glucocorticoid receptor modulator, C108297.

Methods: Mice were treated with either C108297 or vehicle for 10 days beginning one day after pilocarpine-induced status epilepticus. Read More

Epilepsy Behav 2021 04 12;117:107860. Epub 2021 Mar 12.

University of British Columbia and British Columbia Children's Hospital, Division of Neurology, Department of Pediatrics, Vancouver, BC, Canada. Electronic address:

Background: Status epilepticus (SE) is a common pediatric neurological emergency that requires timely treatment to minimize morbidity and mortality, yet administration of rescue medications is often delayed and underdosed. Seizure action plans (SAPs) outline the steps that should be taken by parents and caregivers in case of SE in order to optimize patient outcomes. Our study determined the uptake of SAPs in a pediatric population with epilepsy and assessed parental interest in a SAP mobile application. Read More

Epilepsy Curr 2021 Mar 10:1535759721999670. Epub 2021 Mar 10.

University of Washington, Seattle, WA, USA.

Purpose: Super-refractory status epilepticus (SRSE) presents management challenges due to the absence of randomized controlled trials and a plethora of potential medical therapies. The literature on treatment options for SRSE reports variable success and quality of evidence. This review is a sequel to the 2020 American Epilepsy Society (AES) comprehensive review of the treatment of convulsive refractory status epilepticus (RSE). Read More

Pediatr Crit Care Med 2021 Mar 10. Epub 2021 Mar 10.

1 Department of Pediatrics, McMaster University, Hamilton, ON, Canada. 2 Department of Health Research Methods, Evidence and Impact, McMaster University, Hamilton, ON, Canada. 3 McMaster Children's Hospital, Hamilton, ON, Canada. 4 Division of Emergency Medicine, Department of Medicine, McMaster University, Hamilton, ON, Canada. 5 Department of Biochemistry and Biomedical Sciences, McMaster University, Hamilton, ON, Canada. 6 Division of Critical Care, Department of Medicine, McMaster University, Hamilton, ON, Canada. 7 Division of Pediatric Neurology, Department of Pediatrics, McMaster University, Hamilton, ON, Canada. 8 Division of Pediatric Critical Care, Department of Pediatrics, McMaster University, Hamilton, ON, Canada.

Objective: To synthesize the available evidence examining the efficacy and safety of levetiracetam compared with phenytoin or fosphenytoin in benzodiazepine-refractory pediatric status epilepticus.

Data Sources: We searched (from inception until April 27, 2020) Ovid MEDLINE, EMBASE, Web of Science, and Cochrane Central Register of Controlled Trials.

Study Selection: Two reviewers, independently and in duplicate, screened citations and manuscripts for eligible randomized controlled trials. Read More

Ann Palliat Med 2021 Apr 23;10(4):3626-3632. Epub 2021 Feb 23.

Oregon Health & Science University, Department of Neurology, Portland, OR, USA.

Background: The aim of this study was to assess how frequently epileptologists discuss advance directives regarding intubation and mechanical ventilation with patients with epilepsy. A secondary aim was to understand the attitudes of neurologists toward discussion and implementation of such advance directives in epilepsy care.

Methods: An online study survey was developed and distributed by email invitation to 210 neurologists at academic epilepsy and neurophysiology programs in the United States in December 2018. Read More

Ann Indian Acad Neurol 2020 Nov-Dec;23(6):747-754. Epub 2020 Dec 18.

Paediatrics, Lady Hardinge Medical College, New Delhi, India.

Status epilepticus (SE) is a common neurological emergency in childhood associated with high mortality and morbidity. Acute management of seizures along with aggressive evaluation for establishing the underlying cause are crucial determinants of outcome. Neonatal status epilepticus carries the burden of poor neurological outcomes and may lead to global developmental delay as well as persistent seizures. Read More

Epilepsia Open 2021 03 13;6(1):62-72. Epub 2021 Jan 13.

Department of Pediatrics Phoenix Children's Hospital Phoenix AZ USA.

Febrile infection-related epilepsy syndrome (FIRES) is a rare catastrophic epileptic encephalopathy that presents suddenly in otherwise normal children and young adults causing significant neurological disability, chronic epilepsy, and high rates of mortality. To suggest a therapy protocol to improve outcome of FIRES, workshops were held in conjunction with American Epilepsy Society annual meeting between 2017 and 2019. An international group of pediatric epileptologists, pediatric neurointensivists, rheumatologists and basic scientists with interest and expertise in FIRES convened to propose an algorithm for a standardized approach to the diagnosis and treatment of FIRES. Read More

Epilepsia Open 2021 03 15;6(1):22-27. Epub 2021 Jan 15.

Department of Neurosciences Apollo Speciality Hospitals Madurai India.

A 14-year-old boy presented with a prodromal respiratory infection followed by super refractory status epilepticus. A diagnosis of Febrile Infection-Related Epilepsy Syndrome (FIRES) was made. Initial MRI study and CSF analysis were normal. Read More

Front Neurol 2021 18;12:615802. Epub 2021 Feb 18.

Departments of Anatomy/Neurobiology, Pediatrics, and Neurology, University of California, Irvine, Irvine, CA, United States.

Bi-directional neuronal-glial communication is a critical mediator of normal brain function and is disrupted in the epileptic brain. The potential role of aberrant microglia and astrocyte function during epileptogenesis is important because the mediators involved provide tangible targets for intervention and prevention of epilepsy. Glial activation is intrinsically involved in the generation of childhood febrile seizures (FS), and prolonged FS (febrile status epilepticus, FSE) antecede a proportion of adult temporal lobe epilepsy (TLE). Read More

Pediatr Neurol 2021 Apr 31;117:64-71. Epub 2020 Dec 31.

Department of Neurosurgery, Juntendo University, Bunkyo-ku, Tokyo, Japan.

Background: Individuals with Sturge-Weber syndrome (SWS) often expereince intractable epilepsy and cognitive decline. We hypothesized that the extent of the leptomeningeal capillary malformation (LCM) may correlate with the severity of neurological impairment due to SWS. We tested the hypothesis in a cross-sectional study of seizure severity and electroencephalographic (EEG) findings and a retrospective cohort study for surgical indications related to the extent of the LCM. Read More

J Pediatr Hematol Oncol 2021 Mar 3. Epub 2021 Mar 3.

Hematopoietic Stem Cell Transplantation Unit, Department of Haemato-Oncology Child Neuropsychiatry Unit Neuroradiology Unit, IRCSS Istituto Giannina Gaslini, Genoa, Italy Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa Department of Pediatrics, Pediatric Oncology and Haematology Unit "Lalla Seràgnoli" Child Neurology and Psychiatry Unit, St. Orsola-Malpighi Hospital, University of Bologna Neuroradiology Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna Department of Neuroscience, University of Turin, Turin, Italy.

Objectives: Drug resistant epilepsy has rarely been reported following posterior reversible encephalopathy syndrome (PRES), with few cases of mesial temporal sclerosis (MTS). The aim of this study was to report clinical and neuroimaging features of MTS subsequent to PRES in haemato-oncological/stem cell transplanted children.

Materials And Methods: Among 70 children treated in 2 pediatric haemato-oncological Italian centers between 1994 and 2018 and presenting an episode of PRES, we retrospectively identified and analyzed a subgroup of patients who developed epilepsy and MTS. Read More