4,308 results match your criteria Infantile Spasm West Syndrome


Neurodevelopmental status in infantile spasms and West syndrome: the challenge of assessment.

Authors:
Andrew Lux

Dev Med Child Neurol 2019 Apr 3. Epub 2019 Apr 3.

Department of Paediatric Neurology, Bristol Royal Hospital for Children, Bristol, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dmcn.14236DOI Listing

Identification of human D lactate dehydrogenase deficiency.

Nat Commun 2019 04 1;10(1):1477. Epub 2019 Apr 1.

Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.

Phenotypic and biochemical categorization of humans with detrimental variants can provide valuable information on gene function. We illustrate this with the identification of two different homozygous variants resulting in enzymatic loss-of-function in LDHD, encoding lactate dehydrogenase D, in two unrelated patients with elevated D-lactate urinary excretion and plasma concentrations. We establish the role of LDHD by demonstrating that LDHD loss-of-function in zebrafish results in increased concentrations of D-lactate. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41467-019-09458-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6443703PMC
April 2019
2 Reads

AQB-565 shows promise in preclinical testing in the model of epileptic spasms during infancy: Head-to-head comparison with ACTH.

Epilepsy Res 2019 05 11;152:31-34. Epub 2019 Mar 11.

Department of Cell Biology & Anatomy, New York Medical College School of Medicine, Valhalla, NY, 10595, USA; Department of Neurology, New York Medical College School of Medicine, Valhalla, NY, 10595, USA; Department of Pediatrics, New York Medical College School of Medicine, Valhalla, NY, 10595, USA. Electronic address:

Epileptic spasms during infancy (infantile spasms) represent a serious treatment and social problem despite their rare occurrence. Current treatments include hormonal therapy (adrenocorticotropin-ACTH or corticosteroids) or vigabatrin (per se or in the combination). These treatments are partially effective and with potentially significant adverse effects. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09201211193004
Publisher Site
http://dx.doi.org/10.1016/j.eplepsyres.2019.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6450730PMC
May 2019
7 Reads

Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study.

Epilepsia Open 2019 Mar 21;4(1):73-84. Epub 2018 Dec 21.

Cardiology Clinical Academic Group, Molecular and Clinical Sciences Research Centre St Georges University of London London UK.

Objective: To present the baseline data of the international TuberOus SClerosis registry to increase disease Awareness (TOSCA) with emphasis on the characteristics of epilepsies associated with tuberous sclerosis complex (TSC).

Methods: Retrospective and prospective patients' data on all aspects of TSC were collected from multiple countries worldwide. Epilepsy variables included seizure type, age at onset, type of treatment, and treatment outcomes and association with genotype, seizures control, and intellectual disability. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/epi4.12286
Publisher Site
http://dx.doi.org/10.1002/epi4.12286DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398114PMC
March 2019
17 Reads

Developmental profile at initial presentation in children with infantile spasms.

Dev Med Child Neurol 2019 Mar 10. Epub 2019 Mar 10.

Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.

Aim: To describe the baseline developmental profile and influence of clinical and demographic factors on the developmental skills of infants diagnosed with infantile spasms.

Method: Ninety-five infants (55 males, 40 females) newly diagnosed with infantile spasms were recruited for a cross-sectional, longitudinal study. All infants underwent Bayley Scales of Infant and Toddler Development assessments in the cognitive, receptive communication, expressive communication, and fine and gross motor developmental domains; they also underwent visual, auditory, and social behaviour assessments. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dmcn.14205DOI Listing
March 2019
1 Read

Hand-held, dilation-free, electroretinography in children under 3 years of age treated with vigabatrin.

Doc Ophthalmol 2019 Mar 2. Epub 2019 Mar 2.

Ophthalmology and Vision Sciences, The Hospital for Sick Children, 555 University Avenue, Toronto, ON, M5G1X8, Canada.

Purpose: The anti-epileptic drug vigabatrin is associated with reduction in light-adapted 30-Hz flicker electroretinogram (ERG) amplitude. Ophthalmological assessments, including ERGs, monitor retinal health during vigabatrin treatment. RETeval™ is a hand-held ERG device adapted for dilation-free ERG assessment. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10633-019-09684-9DOI Listing
March 2019
1 Read

Novel SCN2A mutation in a family associated with juvenile-onset myoclonus: Case report.

Medicine (Baltimore) 2019 Feb;98(8):e14698

Department of Neurology, First Affiliated Hospital, Guangxi Medical University, Nanning, Guangxi, China.

Rationale: The phenotypic spectrum caused by SCN2A mutations includes benign neonatal/infantile seizures, Ohtahara syndrome, infantile spasms, West syndrome, and other unclassified epileptic phenotypes. Mutations in SCN2A have been implicated in neonatal seizure cases. Here, we described a Chinese family with 2 members having juvenile-onset myoclonus and identified a novel SCN2A point mutation within this family. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MD.0000000000014698DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6408085PMC
February 2019
5 Reads

Transcranial Direct Current Stimulation for Patients With Pharmacoresistant Epileptic Spasms: A Pilot Study.

Front Neurol 2019 5;10:50. Epub 2019 Feb 5.

Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.

Epileptic spasms (ES) is a severe seizure type and lack of adequate methods for controlling of clinical attacks. Previous studies have indicated that cathodal transcranial direct current stimulation (tDCS) reduces seizure frequency for patients with epilepsy. ES are proposed to have a focal cortical origin. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fneur.2019.00050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370643PMC
February 2019
1 Read

Efficacy and tolerability of the ketogenic diet versus high-dose adrenocorticotropic hormone for infantile spasms: A single-center parallel-cohort randomized controlled trial.

Epilepsia 2019 Mar 23;60(3):441-451. Epub 2019 Feb 23.

Department of Pediatrics and Adolescent Health, Medical University of Vienna, Vienna, Austria.

Objective: To compare the efficacy and safety of the ketogenic diet (KD) with standard adrenocorticotropic hormone (ACTH) treatment in infants with West syndrome.

Methods: In this parallel-cohort (PC) randomized controlled trial (RCT), infants were randomly allocated to KD or high-dose ACTH. Those who could not be randomized were followed in a PC. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.14679DOI Listing
March 2019
1 Read

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12055DOI Listing
January 2019
4 Reads

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

Rev Neurol (Paris) 2019 Mar 25;175(3):163-182. Epub 2019 Jan 25.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neurol.2018.11.002DOI Listing
March 2019
2 Reads

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

View Article

Download full-text PDF

Source
http://journals.sagepub.com/doi/10.1177/2333794X18821939
Publisher Site
http://dx.doi.org/10.1177/2333794X18821939DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6328947PMC
January 2019
14 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

View Article

Download full-text PDF

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

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.

Hum Genet 2019 Feb 17;138(2):187-198. Epub 2019 Jan 17.

Oasi Research Institute-IRCCS, Troina, Italy.

Developmental and epileptic encephalopathies (DEEs) are genetically heterogenous conditions, often characterized by early onset, EEG interictal epileptiform abnormalities, polymorphous and drug-resistant seizures, and neurodevelopmental impairments. In this study, we investigated the genetic defects in two siblings who presented with severe DEE, microcephaly, spastic tetraplegia, diffuse brain hypomyelination, cerebellar atrophy, short stature, and kyphoscoliosis. Whole exome next-generation sequencing (WES) identified in both siblings a homozygous non-sense variant in the ACTL6B gene (NM_016188:c. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-019-01972-3DOI Listing
February 2019
2 Reads

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

View Article

Download full-text PDF

Source
https://academic.oup.com/jes/article/3/2/314/5231480
Publisher Site
http://dx.doi.org/10.1210/js.2018-00370DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330173PMC
February 2019
9 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:

View Article

Download full-text PDF

Source
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 Apr 9;64(4):347-350. 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

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s10038-018-0556-2
Publisher Site
http://dx.doi.org/10.1038/s10038-018-0556-2DOI Listing
April 2019
16 Reads

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

Epilepsy Behav 2019 Mar 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

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S15255050183090
Publisher Site
http://dx.doi.org/10.1016/j.yebeh.2018.12.013DOI Listing
March 2019
11 Reads

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

Discov Med 2018 10;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

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1002/epi4.12280
Publisher Site
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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/epi4.12264DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293071PMC
December 2018
8 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

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

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

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

View Article

Download full-text PDF

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

A Novel Mutation in a 9-Month-Old Male Infant with Epileptic Spasms.

Chin Med J (Engl) 2018 Dec;131(24):2991-2992

Department of Genetics, Capital Institute of Pediatrics, Beijing 100020, China.

View Article

Download full-text PDF

Source
http://www.cmj.org/text.asp?2018/131/24/2991/247216
Publisher Site
http://dx.doi.org/10.4103/0366-6999.247216DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6302651PMC
December 2018
12 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

View Article

Download full-text PDF

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

KCNQ2 mutation in an infant with encephalopathy of infancy with migrating focal seizures.

Epileptic Disord 2018 Dec;20(6):541-544

Department of Pediatrics (Neurology), McMaster University, 1280 Main St., W. Hamilton, Ontario L8S 4K1, Canada.

A male neonate presented with seizures at 18 hours of life, characterized by tonic posturing with eye deviation to the right, apnoea, bradycardia, and oxygen desaturation. Initial structural, metabolic, and infectious work-up was unremarkable. He continued to have seizures refractory to a variety of antiepileptic medications. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1684/epd.2018.1011DOI Listing
December 2018
3 Reads

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1684/epd.2018.1013DOI Listing
December 2018
8 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2018.11.001DOI Listing
January 2019
5 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2018.06.011DOI Listing
October 2018
8 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:

View Article

Download full-text PDF

Source
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 11 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

View Article

Download full-text PDF

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

Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease.

Mol Genet Genomic Med 2019 01 25;7(1):e00503. Epub 2018 Nov 25.

Shanghai Jiao Tong University School of Medicine Affiliated Xinhua Hospital, Shanghai, China.

Background: Both familial exudative vitreoretinopathy (FEVR) and Norrie disease (ND) are hereditary retinal disorders which can cause severe visual impairment and blindness at a young age. The present study aimed to report the use of antenatal genetic testing and ultrasound in the diagnosis and counseling of FEVR and ND.

Methods: Amniocentesis and ultrasonography were performed in high-risk mothers, with children having FEVR or ND, to predict severe ocular abnormalities. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/mgg3.503
Publisher Site
http://dx.doi.org/10.1002/mgg3.503DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6382493PMC
January 2019
20 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

View Article

Download full-text PDF

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

Quantitative Characteristics of Hypsarrhythmia in Infantile Spasms.

Conf Proc IEEE Eng Med Biol Soc 2018 07;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

View Article

Download full-text PDF

Source
https://ieeexplore.ieee.org/document/8512348/
Publisher Site
http://dx.doi.org/10.1109/EMBC.2018.8512348DOI Listing
July 2018
14 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.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S08878994183098
Publisher Site
http://dx.doi.org/10.1016/j.pediatrneurol.2018.09.012DOI Listing
January 2019
2 Reads

Surgical and developmental outcomes of corpus callosotomy for West syndrome in patients without MRI lesions.

Epilepsia 2018 12 5;59(12):2231-2239. Epub 2018 Nov 5.

Department of Neurosurgery, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

Objective: This retrospective study was designed to assess the impact of corpus callosotomy (CC) in patients with intractable West syndrome (WS) without lesions on magnetic resonance imaging (MRI).

Methods: This study involved 56 patients with WS who underwent CC between January 2000 and December 2014. Seizure outcomes and changes in psychomotor development were analyzed. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/epi.14594
Publisher Site
http://dx.doi.org/10.1111/epi.14594DOI Listing
December 2018
15 Reads

A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family.

Neurol Sci 2019 Feb 3;40(2):299-303. Epub 2018 Nov 3.

Center of Excellence in Genomic Medicine Research (CEGMR), King Abdulaziz University, Jeddah, 21589, Kingdom of Saudi Arabia.

Progressive encephalopathy, edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome is an unusual Mendelian phenotype of unidentified origin that causes profound intellectual disability, optic nerve/cerebellar atrophy, epileptic seizures, developmental progress, pedal edema, and early death. Uncharacteristic affected individuals are often classified as having PEHO-like syndrome, although they may be misdiagnosed as having epileptic encephalopathy, a potential result of early birth. In this study, we report a consanguineous Saudi family with a novel homozygous nonsense mutation of the CCDC88A gene causing PEHO-like syndrome. Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10072-018-3626-5
Publisher Site
http://dx.doi.org/10.1007/s10072-018-3626-5DOI Listing
February 2019
12 Reads

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

View Article

Download full-text PDF

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

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

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09675868183159
Publisher Site
http://dx.doi.org/10.1016/j.jocn.2018.10.091DOI Listing
March 2019
10 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1684/epd.2018.1005DOI Listing
October 2018
97 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

View Article

Download full-text PDF

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

Rescue of prepulse inhibition deficit and brain mitochondrial dysfunction by pharmacological stimulation of the central serotonin receptor 7 in a mouse model of CDKL5 Deficiency Disorder.

Neuropharmacology 2019 01 13;144:104-114. Epub 2018 Oct 13.

Center for Behavioral Sciences and Mental Health, Istituto Superiore di Sanità, 00161 Rome, Italy. Electronic address:

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene cause CDKL5 Deficiency Disorder (CDD), a rare neurodevelopmental syndrome characterized by severe behavioural and physiological symptoms. No cure is available for CDD. CDKL5 is a kinase that is abundantly expressed in the brain and plays a critical role in neurodevelopmental processes, such as neuronal morphogenesis and plasticity. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00283908183080
Publisher Site
http://dx.doi.org/10.1016/j.neuropharm.2018.10.018DOI Listing
January 2019
20 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

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09201211183035
Publisher Site
http://dx.doi.org/10.1016/j.eplepsyres.2018.09.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347124PMC
December 2018
5 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2018.09.006DOI Listing
January 2019
2 Reads

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

View Article

Download full-text PDF

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