4,278 results match your criteria Infantile Spasm West Syndrome


Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

J Inherit Metab Dis 2019 Jan 12. Epub 2019 Jan 12.

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

SLC35A2-CDG is caused by mutations in the X-linked SLC35A2 gene encoding the UDP-galactose transporter. SLC35A2 mutations lead to hypogalactosylation of N-glycans. SLC35A2-CDG is characterized by severe neurological symptoms and, in many patients, early-onset epileptic encephalopathy. Read More

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http://dx.doi.org/10.1002/jimd.12055DOI Listing
January 2019
1 Read

Resective surgery in tuberous Sclerosis complex, from Penfield to 2018: A critical review.

Rev Neurol (Paris) 2019 Jan 24. Epub 2019 Jan 24.

Lyon's Neuroscience Research Center, Inserm U1028/CNRS UMR 5292, 69003 Lyon, France; Department of Functional Neurology and Epileptology, Hospices Civils de Lyon and Lyon 1 University, 69003 Lyon, France.

Medically treated patients suffering from tuberous sclerosis complex (TSC) have less than 30% chance of achieving a sustained remission. Both the international TSC consensus conference in 2012, and the panel of European experts in 2012 and 2018 have concluded that surgery should be considered for medically refractory TSC patients. However, surgery remains currently underutilized in TSC. Read More

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http://dx.doi.org/10.1016/j.neurol.2018.11.002DOI Listing
January 2019
1 Read

Infantile Spasms in Children With Down Syndrome: Identification and Treatment Response.

Glob Pediatr Health 2019 9;6:2333794X18821939. Epub 2019 Jan 9.

Children's Hospital Colorado, Aurora, CO, USA.

To evaluate infantile spasms in children with Down syndrome including assessment of efficacy of treatments, presence of treatment lag, and to identify risk factors that may predict the occurrence of infantile spasms in this population. Medical charts, electroencephalograms, and brain magnetic resonance images were evaluated in 37 children treated for infantile spasms at a single institution from 2005 to 2015. Mean age at diagnosis was 9. Read More

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http://journals.sagepub.com/doi/10.1177/2333794X18821939
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http://dx.doi.org/10.1177/2333794X18821939DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6328947PMC
January 2019
6 Reads

Disrupted cortico-ponto-cerebellar pathway in patients with hemimegalencephaly.

Brain Dev 2019 Jan 18. Epub 2019 Jan 18.

Integrative Brain Imaging Center, National Center Hospital of Neurology and Psychiatry, Tokyo, Japan.

Objective: Cerebellar dysmaturation and injury is associated with a wide range of neuromotor, neurocognitive and behavioral disorders as well as with preterm birth. We used diffusion tensor MR imaging to investigate a disruption in structural cortico-ponto-cerebellar (CPC) connectivity in children with infantile-onset severe epilepsy.

Methods: We performed CPC tract reconstructions in 24 hemimegalencephaly (HME) patients, 28 West syndrome (WS) of unknown etiology patients, and 25 pediatric disease control subjects without a history of epilepsy nor brain abnormality on MRI. Read More

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http://dx.doi.org/10.1016/j.braindev.2019.01.002DOI Listing
January 2019

Melanocortin Receptor Accessory Protein 2-Induced Adrenocorticotropic Hormone Response of Human Melanocortin 4 Receptor.

J Endocr Soc 2019 Feb 6;3(2):314-323. Epub 2018 Dec 6.

Departamento de Fisiología de Peces y Biotecnología, Instituto de Acuicultura Torre de la Sal, Consejo Superior de Investigaciones Científicas, Castellón, Spain.

Melanocortin 4 receptor (MC4R), a canonical melanocyte-stimulating hormone receptor, is the main responsible for monogenic obesity in humans. Previous studies in fish and avian species showed that MC4R becomes an ACTH receptor after interaction with the melanocortin receptor accessory protein 2 (MRAP2). We show that human MC4R behaves in a similar way through its interaction with MRAP2. Read More

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https://academic.oup.com/jes/article/3/2/314/5231480
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http://dx.doi.org/10.1210/js.2018-00370DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330173PMC
February 2019
3 Reads

Editorial relating to paper by Schoonjans et al. EJPN 2019; A good night's sleep in Dravet syndrome - an unmet need.

Eur J Paediatr Neurol 2019 01;23(1)

Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, G51 4TF, UK; College of Medical, Veterinary & Life Sciences, University of Glasgow, G12 8QQ, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.12.009DOI Listing
January 2019
1 Read

A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21.

J Hum Genet 2019 Jan 9. Epub 2019 Jan 9.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.

We report the second case of early infantile epileptic encephalopathy (EIEE) arising from a homozygous truncating variant of NECAP1. The boy developed infantile-onset tonic-clonic and tonic seizures, then spasms in clusters. His electroencephalogram (EEG) showed a burst suppression pattern, leading to the diagnosis of Ohtahara syndrome. Read More

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http://www.nature.com/articles/s10038-018-0556-2
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http://dx.doi.org/10.1038/s10038-018-0556-2DOI Listing
January 2019
7 Reads

Brain MRI abnormalities in patients with infantile spasms and Down syndrome.

Epilepsy Behav 2019 Jan 4;92:57-60. Epub 2019 Jan 4.

Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Introduction: Infantile spasms (IS) are the most frequent epilepsy syndrome in children with Down syndrome (DS). In DS, cellular (synaptic/dendritic changes) and molecular mechanisms are believed to contribute to epileptogenesis, rather than gross structural anomalies. Neuroimaging is a standard part of the evaluation of newly diagnosed infantile epilepsy including IS and, in this age group, often requires sedation. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S15255050183090
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http://dx.doi.org/10.1016/j.yebeh.2018.12.013DOI Listing
January 2019
6 Reads

The SORCS3 gene is mutated in brothers with infantile spasms and intellectual disability.

Discov Med 2018 Oct;26(143):147-153

Stem Cells Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA), Riyadh 11426, Saudi Arabia.

The sortilin-related VPS10 domain-containing receptor 3 (SORCS3) is a type-I receptor transmembrane protein and a member of the vacuolar protein sorting 10 receptor family. Proteins of this family are defined to have a vacuolar protein sorting 10 domain at the N-terminus. They play important roles as a sorting agency within the cells and transport a variety of intracellular proteins between the Golgi apparatus, endosome, lysosome, secretory granules, and plasma membrane. Read More

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October 2018
3.503 Impact Factor

Acquired parvalbumin-selective interneuronopathy in the multiple-hit model of infantile spasms: A putative basis for the partial responsiveness to vigabatrin analogs?

Epilepsia Open 2018 Dec 20;3(Suppl Suppl 2):155-164. Epub 2018 Nov 20.

Laboratory of Developmental Epilepsy Saul R. Korey Department of Neurology Albert Einstein College of Medicine Bronx New York U.S.A.

West syndrome, an age-specific epileptic encephalopathy, manifests with infantile spasms (IS) and impaired neurodevelopmental outcomes and epilepsy. The multiple-hit rat model of IS is a chronic model of IS due to structural etiology, in which spasms respond partially to vigabatrin analogs. Using this model, we investigated whether IS due to structural etiology may have deficits in parvalbumin (PRV) and somatostatin (SST) immunoreactive (-ir) interneurons, and calretinin-ir (CR-ir) neurons of the primary somatosensory cortex of postnatal day (PN) 20-24 rats, using specific immunohistochemical assays. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/epi4.12280
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http://dx.doi.org/10.1002/epi4.12280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293059PMC
December 2018
1 Read

Treatment of infantile spasms.

Authors:
Shaun A Hussain

Epilepsia Open 2018 Dec 23;3(Suppl Suppl 2):143-154. Epub 2018 Oct 23.

Division of Pediatric Neurology David Geffen School of Medicine UCLA Mattel Children's Hospital Los Angeles California U.S.A.

The treatment of infantile spasms is challenging, especially in the context of the following: (1) a severe phenotype with high morbidity and mortality; (2) the urgency of diagnosis and successful early response to therapy; and (3) the paucity of effective, safe, and well-tolerated therapies. Even after initially successful treatment, relapse risk is substantial and the most effective therapies pose considerable risk with long-term administration. In evaluating any treatment for infantile spasms, the key short-term outcome measure is freedom from both epileptic spasms and hypsarrhythmia. Read More

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http://dx.doi.org/10.1002/epi4.12264DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293071PMC
December 2018
2 Reads

Infantile Spasms: Clinical profile and treatment outcomes.

Pak J Med Sci 2018 Nov-Dec;34(6):1424-1428

Dr. Misbah Anjum, MBBS, FCPS. Department of Pediatric Medicine Unit III, National Institute of Child Health, Karachi, Pakistan.

Background And Objective: Infantile spasm (IS) is one of the severe epileptic encephalopathies which affect children in early two years of life. Our objective was to determine the clinical profile, etiology and outcome of treatment in children with infantile spasms attending tertiary care hospital at Karachi, Pakistan.

Methods: This is retrospective study of 36 patients out of 94 registered as IS, aged three months to two years, managed and followed up at Aga Khan University Hospital, Karachi, from 2010 to 2015. Read More

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http://dx.doi.org/10.12669/pjms.346.15869DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6290195PMC
December 2018

Factors predictive of prognosis of infantile spasms. A retrospective study in a low-income country.

Arch Pediatr 2019 Jan 13;26(1):1-5. Epub 2018 Dec 13.

Department of Pediatrics, La Rabta Hospital, Jabbari, 1007 Tunis, Tunisia; Université Tunis El Manar, Faculté de Médecine de Tunis, 15, Rue Djebel Lakhdhar, 1007 La Rabta, Tunisia; LR12SPO2 les maladies héréditaires du métabolisme investigation et prise en charge, 1007 Tunis, Tunisia.

Purpose: To describe the management of infants with epileptic spasms (ESs) in a low-income country and identify factors predictive of their prognosis.

Material And Methods: We conducted a retrospective study in a university hospital in Tunis, Tunisia, over a period of 10 years. We included infants with recurrent ESs. Read More

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http://dx.doi.org/10.1016/j.arcped.2018.10.003DOI Listing
January 2019

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Neurology 2019 Jan 12;92(2):e96-e107. Epub 2018 Dec 12.

From the Epilepsy Research Centre (D.R.M.V., B.J.S., R.B., M.F.B., S.F.B., M.S.H., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Departments of Genetics (D.R.M.V., C.M.A.v.R.-A.) and Neurology (D.R.M.V.), University Medical Center Groningen, University of Groningen, the Netherlands; Pediatric Neurology Unit and Laboratories (D.M., M.M.) and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Italy; Department of Pediatrics and Pediatric Epilepsy Centre (H.X., W.X.W., Y.J.), Peking University First Hospital, Beijing, China; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Population Health and Immunity Division (M.F.B.), Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; Department of Medical Biology (M.F.B.), University of Melbourne, Australia; Caulfield (D.W.), Melbourne, Australia; Department of Clinical Genetics (S.M.M.), Academic Medical Centre, Amsterdam, the Netherlands; Department of Clinical Genetics (A.S.B., G.M.S.M., I.M.B.H.v.d.L.), Erasmus University Medical Centre, Rotterdam, the Netherlands; Department of Clinical Genetics (J.M.v.H.), VU University Medical Center, Amsterdam, the Netherlands; Tasmanian Health Service (T.L.W.), Women's and Children's Services, Launceston General Hospital, Tasmania, Australia; TY Nelson Department of Neurology and Neurosurgery (R.I.W.) and Institute of Neuroscience and Muscle Research (R.I.W.), Children's Hospital at Westmead, Sydney, Australia; Department of Neurosciences (S.M.), Lady Cilento Children's Hospital, Brisbane, Australia; Department of Anatomical Pathology (R.M.K.), Austin Hospital, Melbourne, Australia; IRCCS Stella Maris Foundation (F.S., R.G.), Pisa, Italy; Klinikum Oldenburg (G.C.K.), Zentrum für Kinder-und Jugendmedizin, Klinik für Neuropädiatrie u. angeborene Stoffwechselerkrankungen, Oldenburg, Germany; Centre of Epilepsy (Y.J.), Beijing Institute for Brain Disorders, China; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia; and Florey Institute of Neurosciences and Mental Health (I.E.S.), Parkville, Australia.

Objective: To delineate the epileptology, a key part of the phenotypic spectrum, in a large patient cohort.

Methods: Patients were recruited via investigators' practices or social media. We included patients with (likely) pathogenic variants or chromosome 6p21. Read More

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340340PMC
January 2019
8 Reads

Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination.

Am J Med Genet C Semin Med Genet 2018 Dec 10;178(4):423-431. Epub 2018 Dec 10.

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

Aicardi syndrome is a rare, severe neurodevelopmental disorder classically characterized by the triad of infantile spasms, central chorioretinal lacunae, and agenesis of the corpus callosum. Aicardi syndrome only affects females, with the exception of a few males with a 47, XXY chromosome constitution. All cases are de novo and the only cases of definitive recurrence in families are in identical twins. Read More

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http://dx.doi.org/10.1002/ajmg.c.31658DOI Listing
December 2018
2 Reads
3.906 Impact Factor

Intractable apnoeic seizures in a child with a deletion typically associated with Williams syndrome.

Epileptic Disord 2018 Dec;20(6):530-534

Division of Pediatric Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto.

Williams-Beuren syndrome is rarely associated with epilepsy. One previously reported case showed an association with apnoeic seizures while a few other cases showed an association with infantile epileptic spasms and generalized and focal seizures. We report the case of a 13-month-old boy with a deletion typically associated with Williams-Beuren syndrome, who presented with isolated apnoeic seizures which were refractory to multiple antiepileptic drugs but partially responsive to the ketogenic diet. Read More

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http://dx.doi.org/10.1684/epd.2018.1013DOI Listing
December 2018
6 Reads

CSF nerve growth factor (β-NGF) is increased but CSF insulin-like growth factor-(IGF-1) is normal in children with tuberous sclerosis and infantile spasms.

Eur J Paediatr Neurol 2019 Jan 14;23(1):191-196. Epub 2018 Nov 14.

School of Medicine, University of Eastern Finland, Kuopio, Finland. Electronic address:

Tuberous sclerosis is associated with epilepsy that is often refractory. We examined cerebrospinal fluid (CSF) concentrations for neurotrophins, nerve growth factor (β-NGF) and insulin-like growth factor (IGF-1) in children with infantile spasms between 1997 and 2010. We classified the patients as follows: tuberous sclerosis (n = 5), cryptogenic spasms (n = 6), postinfectious spasms (n = 5) and other symptomatic spasms (n = 22). Read More

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http://dx.doi.org/10.1016/j.ejpn.2018.11.001DOI Listing
January 2019
3 Reads

Treating Infantile Spasms with High-Dose Oral Corticosteroids: A Retrospective Review of 87 Children.

Pediatr Neurol 2018 Oct 3;87:30-35. Epub 2018 Aug 3.

Departments of Neurology and Pediatrics, The Johns Hopkins Hospital, Baltimore, Baltimore, Maryland. Electronic address:

Background: Hormonal therapy is the treatment of choice in most patients with infantile spasms, but the optimal way to provide this therapy is unclear. Intramuscular adrenocorticotropic hormone (ACTH) has historically used first-line; however, there are significant logistical and financial issues. Our institution has used high-dose prednisolone as the first-line hormonal treatment of infantile spasms since 2006 and published our early experience with 15 infants in 2009. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.06.011DOI Listing
October 2018
6 Reads

High-Dose Prednisolone as a First-line Treatment for Infantile Spasms.

Authors:
John R Mytinger

Pediatr Neurol 2018 Oct 9;87:3-4. Epub 2018 Aug 9.

Division of Pediatric Neurology Nationwide Children's Hospital Ohio State University Columbus, Ohio. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.08.011DOI Listing
October 2018

Latitudinal differences on the global epidemiology of infantile spasms: systematic review and meta-analysis.

Orphanet J Rare Dis 2018 Nov 29;13(1):216. Epub 2018 Nov 29.

Department of Pediatrics, Division of Neurology, University of Toronto, Toronto, Canada.

Background: Infantile spasms represent the catastrophic, age-specific seizure type associated with acute and long-term neurological morbidity. However, due to rarity and heterogenous determination, there is persistent uncertainty of its pathophysiological and epidemiological characteristics. The purpose of the current study was to address a historically suspected latitudinal basis of infantile spasms incidence, and to interrogate a geographical basis of epidemiology, including the roles of latitude and other environmental factors, using meta-analytic and -regression methods. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0952-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262963PMC
November 2018
18 Reads

Epileptic spasms as the presenting seizure type in a patient with a new "O" of TORCH, congenital Zika virus infection.

Epilepsy Behav Case Rep 2019 18;11:1-3. Epub 2018 Oct 18.

Division of Pediatric Neurology, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.

Congenital TORCH infections are a significant cause of epileptic spasms, an infantile epileptic encephalopathy, through disruptions to several pathways in neurodevelopment. Congenital Zika virus has a similar neurotropism to other TORCH agents, and leads to microcephaly, severe neurodevelopmental impairment, and high rates of early onset seizures. Here we report a child with confirmed congenital Zika virus who developed extensor epileptic spasms and hypsarrhythmia associated with a loss of early developmental milestones. Read More

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http://dx.doi.org/10.1016/j.ebcr.2018.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232624PMC
October 2018

Quantitative Characteristics of Hypsarrhythmia in Infantile Spasms.

Conf Proc IEEE Eng Med Biol Soc 2018 Jul;2018:538-541

Infantile spasms is a type of epilepsy characterized by clinical seizures termed "spasms" and often an electroencephalographic (EEG) pattern known as hypsarrhythmia. Multiple studies have shown that the interrater reliability for human visual recognition of hypsarrhythmia is poor. Quantitative measurements of this EEG pattern would provide objective basis for identification; however, the basic temporal and spectral characteristics of hypsarrhythmia have never been assessed. Read More

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https://ieeexplore.ieee.org/document/8512348/
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http://dx.doi.org/10.1109/EMBC.2018.8512348DOI Listing
July 2018
8 Reads

A Serendipitous Case for Shorter Steroid Course in Infantile Spasms.

Pediatr Neurol 2019 Jan 9;90:68-69. Epub 2018 Oct 9.

Departments of Neurology and Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland.

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https://linkinghub.elsevier.com/retrieve/pii/S08878994183098
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http://dx.doi.org/10.1016/j.pediatrneurol.2018.09.012DOI Listing
January 2019
1 Read

Tuberous Sclerosis Complex: Early Diagnosis in Infants.

Pediatr Neurol Briefs 2018 Oct 17;32:12. Epub 2018 Oct 17.

Departments of Pediatrics and Neurology, Tulane University School of Medicine, New Orleans, LA.

Investigators from the Tuberous Sclerosis Complex (TSC) Autism Center of Excellence Research conducted two concurrent prospective longitudinal studies to analyze the timing and pattern of clinical presenting symptoms of TSC in infants to facilitate earlier diagnosis and treatment in this specific population. Read More

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http://dx.doi.org/10.15844/pedneurbriefs-32-12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6192978PMC
October 2018
1 Read

PEHO syndrome: KIF1A mutation and decreased activity of mitochondrial respiratory chain complex.

J Clin Neurosci 2019 Mar 29;61:298-301. Epub 2018 Oct 29.

Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, AR, United States.

We report a child with hypotonia, optic atrophy, progressive encephalopathy and intractable infantile spasms who was diagnosed with PEHO syndrome. Extensive investigation was performed to diagnose an underlying etiology. Electron transport chain activities in muscle biopsies showed an isolated complex IV deficiency. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09675868183159
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http://dx.doi.org/10.1016/j.jocn.2018.10.091DOI Listing
March 2019
9 Reads

West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations.

Epileptic Disord 2018 Oct;20(5):401-412

Division of Neurology, Department of Pediatrics, Tawam Hospital, Al Ain, Department of Pediatrics, College of Medicine and Health Sciences UAE University, Al Ain, United Arab Emirates.

Mutations in the WWOX gene have been reported in a number of patients with various neurological disorders including spino-cerebellar ataxia, intellectual disability, epilepsy, and epileptic encephalopathy. We aimed to study the clinical, electrographic, and imaging features of two new cases with WWOX mutations and compare them to previously reported cases with WWOX mutations. We assessed two unrelated children from two consanguineous families who had severe neurological disorder including early-onset spastic quadriplegia, profound developmental delay, epilepsy, and West syndrome. Read More

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http://dx.doi.org/10.1684/epd.2018.1005DOI Listing
October 2018
82 Reads
0.900 Impact Factor

Lacosamide for SCN2A-related intractable neonatal and infantile seizures.

Epileptic Disord 2018 10;20(5):440-446

Pediatric Neurology and Development Center, Assaf Harofe Medical Center, Zerifin,, Sackler faculty of medicine, Tel Aviv University, Tel Aviv.

Voltage-gated sodium channel alpha subunit 2 (SCN2A) gene mutations are associated with neonatal seizures and a wide range of epilepsy syndromes. Previous reports suggest that traditional sodium channel blockers (SCBs) such as phenytoin, carbamazepine, and lamotrigine have a beneficial effect on SCN2A-related neonatal seizures, as they counteract the gain-of-function effect of mutated Nav1.2 channels. Read More

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http://dx.doi.org/10.1684/epd.2018.1001DOI Listing
October 2018
13 Reads

High vigabatrin dosage is associated with lower risk of infantile spasms relapse among children with tuberous sclerosis complex.

Epilepsy Res 2018 12 2;148:1-7. Epub 2018 Oct 2.

Division of Pediatric Neurology, UCLA Mattel Children's Hospital and David Geffen School of Medicine, Los Angeles, California, United States.

After initially successful treatment of infantile spasms, the long-term cumulative risk of relapse approaches 50%, and there is no established protocol to mitigate this risk. Although vigabatrin may be an effective means to prevent relapse, there is little guidance as to ideal duration and dosage. Using a cohort of children with infantile spasms and tuberous sclerosis complex (TSC), we evaluated the potential association of post-response VGB treatment and the rate of infantile spasms relapse. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09201211183035
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http://dx.doi.org/10.1016/j.eplepsyres.2018.09.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347124PMC
December 2018
4 Reads

Safety, tolerability, and effectiveness of oral zonisamide therapy in comparison with intramuscular adrenocorticotropic hormone therapy in infants with West syndrome.

Eur J Paediatr Neurol 2019 Jan 22;23(1):136-142. Epub 2018 Sep 22.

Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India. Electronic address:

West syndrome is a distinct, infantile onset, epileptic encephalopathy, associated with poor neurodevelopmental outcome. The present study was designed as a randomized, open-label, pilot study to evaluate the safety, feasibility, and effectiveness of oral zonisamide therapy in comparison with adrenocorticotropic hormone therapy in infants with West syndrome. Thirty infants with West syndrome were randomized to receive treatment with either synthetic, intramuscular adrenocorticotropic hormone (30-60 IU) or oral zonisamide (4-25 mg/kg/day). Read More

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http://dx.doi.org/10.1016/j.ejpn.2018.09.006DOI Listing
January 2019
1 Read

A de novo in-frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient.

Am J Med Genet A 2018 Nov 5;176(11):2425-2429. Epub 2018 Oct 5.

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.

We report a female patient with a novel, heterozygous, de novo in-frame deletion in the CASK gene (c.2179-2181 del GTA, p.Val727del) who presents with early onset infantile spasms, hypsarrhythmia on electroencephalogram (EEG), and frontal lobe abnormalities on brain magnetic resonance imaging (MRI) without microcephaly and pontocerebellar hypoplasia. Read More

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http://doi.wiley.com/10.1002/ajmg.a.40429
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http://dx.doi.org/10.1002/ajmg.a.40429DOI Listing
November 2018
14 Reads

Electroclinical Pattern and Epilepsy Evolution in an Infant with Miller-Dieker Syndrome.

J Pediatr Neurosci 2018 Jul-Sep;13(3):302-307

Pediatric and Pediatric Emergency Department, University Hospital "Policlinico-Vittorio Emanuele," Catania, Italy.

Aim Of The Study: To evaluate the electroclinical course and the correlation Electroencephalographic (EEG) pattern and epileptic seizures in an infant with Miller Dieker Syndrome (MDS) during the first year of life.

Materials And Methods: MDS was diagnosed in the infant soon after birth and followed up from six months of life to one year, at the Department of Pediatrics, General Pediatric Operative Unit, Policlinico Vittorio Emanuele, University Hospital, XCatania, Italy, with clinical and serial EEG recording.

Results: Aside from severe delay in the developmental milestone, the onset of the seizures was first noticed by the parents at the age of 4 months as brief slow tonic movements; at 6 months as tonic movements of the upper limbs with a slow rotations of the trunk, i. Read More

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http://www.pediatricneurosciences.com/text.asp?2018/13/3/302
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http://dx.doi.org/10.4103/JPN.JPN_182_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144613PMC
October 2018
1 Read

De novo PHACTR1 mutations in West syndrome and their pathophysiological effects.

Brain 2018 Nov;141(11):3098-3114

Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Human Service Center, 713-8 Kamiya, Kasugai, Aichi, Japan.

Trio-based whole exome sequencing identified two de novo heterozygous missense mutations [c.1449T > C/p.(Leu500Pro) and c. Read More

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http://dx.doi.org/10.1093/brain/awy246DOI Listing
November 2018
9 Reads

Evolution and course of early life developmental encephalopathic epilepsies: Focus on Lennox-Gastaut syndrome.

Epilepsia 2018 Nov 26;59(11):2096-2105. Epub 2018 Sep 26.

Department of Pediatrics, Yale School of Medicine, New Haven, Connecticut.

Objectives: Developmental encephalopathic epilepsies (DEEs) are characterized by refractory seizures, disability, and early death. Opportunities to improve care and outcomes focus on West syndrome/infantile spasms (WS/IS). Lennox-Gastaut syndrome (LGS) is almost as common but receives little attention. Read More

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http://doi.wiley.com/10.1111/epi.14569
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http://dx.doi.org/10.1111/epi.14569DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215498PMC
November 2018
1 Read

Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial.

Lancet Child Adolesc Health 2018 Oct 29;2(10):715-725. Epub 2018 Aug 29.

Children's Department, Royal United Hospitals Bath NHS Foundation Trust, Combe Park, Bath, UK; Department for Health, University of Bath, Claverton Down, Bath, UK.

Background: Infantile spasms constitute a severe form of epileptic encephalopathy. In the International Collaborative Infantile Spasms Study (ICISS), we showed that combining vigabatrin with hormonal therapy was more effective than hormonal therapy alone at stopping spasms between days 14 and 42 of treatment. In this planned follow-up, we aimed to assess whether combination therapy was associated with improved developmental and epilepsy outcomes at 18 months of age. Read More

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http://dx.doi.org/10.1016/S2352-4642(18)30244-XDOI Listing
October 2018
13 Reads

Precious time to respond to infantile spasms.

Authors:
Sameer M Zuberi

Lancet Child Adolesc Health 2018 Oct 29;2(10):691-693. Epub 2018 Aug 29.

Paediatric Neurosciences Research Group, Royal Hospital for Children & School of Medicine, University of Glasgow, Glasgow G51 4TF, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S23524642183028
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http://dx.doi.org/10.1016/S2352-4642(18)30285-2DOI Listing
October 2018
3 Reads

Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications.

BMC Neurol 2018 Sep 20;18(1):150. Epub 2018 Sep 20.

Division of Pediatrics Neurology, China Medical University, Children's Hospital, Taichung, Taiwan.

Background: Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2) is an extremely rare disease caused by a heterozygous mutation in the PPP1CB gene on chromosome 2p23. The syndrome causes not only numerous dysmorphic features but also hypotonia, developmental delay, and even intellectual disability. We report the first case of NSLH2 in Asia and the 16th in the world. Read More

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http://dx.doi.org/10.1186/s12883-018-1157-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6148994PMC
September 2018
3 Reads

Addition of pyridoxine to prednisolone in the treatment of infantile spasms: The knowledge gaps.

Neurol India 2018 Sep-Oct;66(5):1524

Pediatrics Neurology Unit, Post Graduate Medical Education and Research, Chandigarh, India.

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http://dx.doi.org/10.4103/0028-3886.241359DOI Listing
September 2018
1 Read

Corticotrophin-ACTH in Comparison to Prednisolone in West Syndrome - A Randomized Study.

Indian J Pediatr 2019 Feb 19;86(2):165-170. Epub 2018 Sep 19.

Department of Pediatrics, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.

Objective: To compare the outcomes of adrenocorticotrophic hormone (ACTH) and Prednisolone therapy in children with West syndrome.

Methods: The study was done at a tertiary health centre for children. The pediatric neurologist at the centre enrolled children into the study based on the inclusion and exclusion criteria. Read More

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http://dx.doi.org/10.1007/s12098-018-2782-1DOI Listing
February 2019
4 Reads
0.920 Impact Factor

[Transional syndrome: from West to Lennox-Gastaut syndromes].

Medicina (B Aires) 2018;78 Suppl 2:2-5

Universidad Autónoma de Aguascalientes, México. E-mail:

West syndrome or infantile spasms is an epileptic encephalopathy, classified as generalized epilepsies and syndromes. There are multiple reports of the evolution from West to Lennox-Gastaut syndrome of 25 up to 60%, without a specific cause is determined. It has been reported that they may be only an epileptic entity age dependent that it would be in relation to the degree of brain immaturity. Read More

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January 2018
1 Read

Proposition of a Minimal Effective Dose of Vigabatrin for the Treatment of Infantile Spasms Using Pediatric and Adult Pharmacokinetic Data.

J Clin Pharmacol 2019 Feb 7;59(2):177-188. Epub 2018 Sep 7.

INSERM U1129, Paris, France, Paris Descartes University, CEA, Gif-sur-Yvette, France.

Vigabatrin is an antiepileptic drug indicated as monotherapy in infantile spasms. However, the pharmacokinetic profile of this compound in infants and young children is still poorly understood, as is the minimal effective dose, critical information given the risk of exposure-related retinal toxicity with vigabatrin. A reasonable approach to determining this minimal dose would be to identify the lowest dose providing a low risk of exposure overlap with the 36-mg/kg dose, which is the highest dose associated with an increased risk for treatment failure, based on randomized dose-ranging data. Read More

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http://dx.doi.org/10.1002/jcph.1309DOI Listing
February 2019
7 Reads

Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation.

Pediatr Neurol 2018 Oct 7;87:48-56. Epub 2018 May 7.

Departments of Neurology and Pediatrics, University of California San Francisco, San Francisco, California. Electronic address:

Background: No large-scale studies have specifically evaluated the outcomes of infantile spasms (IS) of unknown cause, previously known as cryptogenic or idiopathic. The Epilepsy Phenome/Genome Project aimed to characterize IS of unknown cause by phenotype and genotype analysis.

Methods: We undertook a retrospective multicenter observational cohort of 133 individuals within the Epilepsy Phenome/Genome Project database met criteria for IS of unknown cause with at least six months of follow-up data. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S08878994183034
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http://dx.doi.org/10.1016/j.pediatrneurol.2018.04.012DOI Listing
October 2018
15 Reads

Multimodal localization and surgery for epileptic spasms of focal origin: a review.

Neurosurg Focus 2018 Sep;45(3):E4

1Division of Neurosurgery, The Hospital for Sick Children, Toronto, Ontario, Canada.

Epileptic spasms (ES) are a common manifestation of intractable epilepsy in early life and can lead to devastating neurodevelopmental consequences. Epilepsy surgery for ES is challenging because of inherent difficulties in localizing the epileptogenic zone in affected infants and children. However, recent clinical series of resective neurosurgery for ES suggest that not only is surgery a viable option for appropriately selected patients, but postoperative seizure outcomes can be similar to those achieved in other types of focal epilepsy. Read More

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http://dx.doi.org/10.3171/2018.6.FOCUS18217DOI Listing
September 2018
2 Reads

Regeneration of neurotransmission transcriptome in a model of epileptic encephalopathy after antiinflammatory treatment.

Neural Regen Res 2018 Oct;13(10):1715-1718

Department of Cell Biology & Anatomy, New York Medical College; Department of Neurology, New York Medical College; Department of Pediatrics, New York Medical College, Valhalla, NY, USA.

Inflammation is an established etiopathogenesis factor of infantile spasms (IS), a therapy-resistant epileptic syndrome of infancy. We investigated the IS-associated transcriptomic alterations of neurotransmission in rat hypothalamic arcuate nucleus, how they are corrected by antiinflamatory treatments and whether there are sex differences. IS was triggered by repeated intraperitoneal administration of N-methyl-D-aspartic acid following anti-inflammatory treatment (adreno-cortico-tropic-hormone (ACTH) or PMX53) or normal saline vehicle to prenatally exposed to betamethasone young rats. Read More

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http://dx.doi.org/10.4103/1673-5374.238607DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128045PMC
October 2018
17 Reads
0.234 Impact Factor

Intellectual Disability and Psychotropic Medications.

J Dev Behav Pediatr 2018 Sep;39(7):591-593

Division of Developmental Behavioral Pediatrics, University of Michigan Medical School, Ann Arbor, MI.

Case: Andrew is a 17-year-old male with trisomy 21, commonly known as Down syndrome, and accompanying severe intellectual disability who presents to your primary care office with his father for the first time to establish care and assistance with transition. Andrew has a history of a complete atrioventricular canal that was repaired as an infant and poorly controlled infantile spasms. Currently, he struggles with constipation, esophageal strictures, medullary nephrocalcinosis, urinary retention, sleep dysregulation, G-tube dependency, and hip dysplasia. Read More

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http://Insights.ovid.com/crossref?an=00004703-900000000-9926
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http://dx.doi.org/10.1097/DBP.0000000000000613DOI Listing
September 2018
23 Reads

Use of electronic medical record templates improves quality of care for patients with infantile spasms.

Health Inf Manag 2018 Aug 19:1833358318794501. Epub 2018 Aug 19.

Stanford University School of Medicine, USA.

Background: Infantile spasms (IS) is a neurologic disorder of childhood where time to treatment may affect long-term outcomes. Due to the clinical complexity of IS, care can be delayed.

Objective: To determine if the use of electronic medical record templates (EMRTs) improved care quality in patients treated for IS. Read More

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http://dx.doi.org/10.1177/1833358318794501DOI Listing
August 2018
1 Read

Strength and stability of EEG functional connectivity predict treatment response in infants with epileptic spasms.

Clin Neurophysiol 2018 Oct 4;129(10):2137-2148. Epub 2018 Aug 4.

Department of Biomedical Engineering, University of California, Irvine, CA, USA. Electronic address:

Objective: Epileptic spasms (ES) are associated with pathological neuronal networks, which may underlie characteristic EEG patterns such as hypsarrhythmia. Here we evaluate EEG functional connectivity as a quantitative marker of treatment response, in comparison to classic visual EEG features.

Methods: We retrospectively identified 21 ES patients and 21 healthy controls. Read More

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http://dx.doi.org/10.1016/j.clinph.2018.07.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6193760PMC
October 2018
2 Reads

Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications.

Acta Neurol Scand 2018 Dec 14;138(6):523-530. Epub 2018 Aug 14.

Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, 'G. Gaslini' Institute, University of Genoa, Genova, Italy.

Objectivies: Monosomy 1p36 syndrome is a recognized syndrome with multiple congenital anomalies; medical problems of this syndrome include developmental delay, facial dysmorphisms, hearing loss, short stature, brain anomalies, congenital heart defects. Epilepsy can be another feature but there are few data about the types of seizures and long term prognosis. The aim of this work was to analyse the electroclinical phenotype and the long-term outcome in patients with monosomy 1p36 syndrome and epilepsy. Read More

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http://dx.doi.org/10.1111/ane.13006DOI Listing
December 2018
5 Reads