4,565 results match your criteria Infantile Spasm West Syndrome


Crisis Standard of Care: Management of Infantile Spasms during COVID-19.

Ann Neurol 2020 May 22. Epub 2020 May 22.

Boston Children's Hospital, Boston, MA.

The Child Neurology Society collaborated with the Pediatric Epilepsy Research Consortium to issue an online statement April 6, 2020 of immediate recommendations to streamline diagnosis, treatment, and follow up of infantile spasms. The recommendations encourage use of telemedicine, outpatient over inpatient studies, and oral therapies as initial treatment. Each recommendation is earmarked as enduring if intended to outlast the pandemic, and limited if intended only during the duration of the pandemic. Read More

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http://dx.doi.org/10.1002/ana.25792DOI Listing

Electroclinical Findings of Epileptic Encephalopathy.

J Pediatr Neurosci 2020 Jan-Mar;15(1):29-33. Epub 2020 Mar 18.

Child Neurology Section, Department of Pediatrics, University of Arkansas for Medical Sciences (UAMS), Little Rock, AR, USA.

Introduction: Early-onset epileptic encephalopathies are among the most severe early-onset epilepsies, leading to progressive neurodegeneration. An increasing number of novel genetic causes continue to be uncovered as the primary etiology.

Results: We report a girl infant of Semitic (Saudi Arabian) descent who presented with multifocal seizures and later developed intractable infantile spasms and myoclonic seizures. Read More

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http://dx.doi.org/10.4103/JPN.JPN_10_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7227754PMC

Prevalence of Vitamin B12 Deficiency in West Syndrome: A Retrospective Chart Review.

J Pediatr Neurosci 2020 Jan-Mar;15(1):21-24. Epub 2020 Mar 18.

Department of Pediatrics, Pt. Bhagwat Dayal Sharma, Post Graduate Institute of Medical Sciences (PGIMS), Rohtak, Haryana, India.

Aims And Objectives: The aim of this study was to describe the vitamin B12 status among children treated for West syndrome and to review the clinical response to vitamin B12 supplementation among those found deficient.

Materials And Methods: Hospital records of children with West syndrome with a minimum follow-up of 6 months where serum vitamin B12 was estimated during the course of treatment were identified. Records were studied for etiology, and their response to clinical treatment was noted. Read More

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http://dx.doi.org/10.4103/JPN.JPN_68_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7227759PMC

Modeling epileptic spasms during infancy: Are we heading for the treatment yet?

Pharmacol Ther 2020 May 15:107578. Epub 2020 May 15.

Departments of Cell Biology & Anatomy, New York Medical College, Valhalla, NY, USA; Departments of Neurology, New York Medical College, Valhalla, NY, USA; Departments of Obstetrics & Gynecology, New York Medical College, Valhalla, NY, USA.

Infantile spasms (IS or epileptic spasms during infancy) were first described by Dr. William James West (aka West syndrome) in his own son in 1841. While rare by definition (occurring in 1 per 3200-3400 live births), IS represent a major social and treatment burden. Read More

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http://dx.doi.org/10.1016/j.pharmthera.2020.107578DOI Listing

Retch Sign for the Identification of Subtle Infantile Spasms.

Authors:
John R Mytinger

Pediatr Neurol 2020 Apr 13. Epub 2020 Apr 13.

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

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http://dx.doi.org/10.1016/j.pediatrneurol.2020.04.001DOI Listing

[Infantile spasms].

Ugeskr Laeger 2020 Apr;182(17)

Ichthyosis - also called fish scale disease - is a group of skin diseases, which are characterised by xerosis and scaling. Most commonly, the diseases are genetically inherited, but an acquired type also exists. Ichthyosis vulgaris (IV), is the most common type, affecting 1:250 individuals. Read More

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Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy.

Neuropediatrics 2020 May 11. Epub 2020 May 11.

Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University of Kiel, Kiel, Germany.

Patients with neurofibromatosis type 1 (NF1) have an increased risk for West syndrome (WS), but the underlying mechanisms linking NF1 and WS are unknown. In contrast to other neurocutaneous syndromes, intracerebral abnormalities explaining the course of infantile spasms (IS) are often absent and the seizure outcome is usually favorable. Several studies have investigated a potential genotype-phenotype correlation between and seizure susceptibility, but an association was not identified. Read More

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http://dx.doi.org/10.1055/s-0040-1710524DOI Listing

Interictal scalp fast ripple occurrence and high frequency oscillation slow wave coupling in epileptic spasms.

Clin Neurophysiol 2020 Jul 10;131(7):1433-1443. Epub 2020 Apr 10.

Division of Pediatric Neurology, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.

Objective: Intracranial high frequency oscillation (HFO) occurrence rate (OR) and slow wave activity (SWA) coupling are potential markers of epileptogenicity in epileptic spasms (ES). Scalp ripple (R) detection and SWA coupling have been described in ES; however, the feasibility of scalp fast ripple (FR) detection and measurement of scalp FR coupling to SWA is not known. We evaluated interictal scalp R and FR OR and SWA coupling in pre-treatment EEG in children with short-term treatment-refractory ES compared to short-term treatment non-refractory ES. Read More

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http://dx.doi.org/10.1016/j.clinph.2020.03.025DOI Listing

RNAi-Based Gene Therapy Rescues Developmental and Epileptic Encephalopathy in a Genetic Mouse Model.

Mol Ther 2020 Apr 16. Epub 2020 Apr 16.

Institute for Genomic Medicine and Department of Genetics and Development, Columbia University Irving Medical Center, New York, NY 10032, USA. Electronic address:

Developmental and epileptic encephalopathy (DEE) associated with de novo variants in the gene encoding dynamin-1 (DNM1) is a severe debilitating disease with no pharmacological remedy. Like most genetic DEEs, the majority of DNM1 patients suffer from therapy-resistant seizures and comorbidities such as intellectual disability, developmental delay, and hypotonia. We tested RNAi gene therapy in the Dnm1 fitful mouse model of DEE using a Dnm1-targeted therapeutic microRNA delivered by a self-complementary adeno-associated virus vector. Read More

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http://dx.doi.org/10.1016/j.ymthe.2020.04.007DOI Listing

De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms.

J Hum Genet 2020 Apr 27. Epub 2020 Apr 27.

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

The ubiquitin-proteasome system is the principal system for protein degradation mediated by ubiquitination and is involved in various cellular processes. Cullin-RING ligases (CRL) are one class of E3 ubiquitin ligases that mediate polyubiquitination of specific target proteins, leading to decomposition of the substrate. Cullin 3 (CUL3) is a member of the Cullin family proteins, which act as scaffolds of CRL. Read More

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http://dx.doi.org/10.1038/s10038-020-0758-2DOI Listing
April 2020
2.462 Impact Factor

Variant in the neuronal vesicular SNARE VAMP2 (synaptobrevin-2): First report in Japan.

Brain Dev 2020 Apr 23. Epub 2020 Apr 23.

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

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

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

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http://dx.doi.org/10.1016/j.braindev.2020.04.001DOI Listing

De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.

Am J Hum Genet 2020 May 23;106(5):717-725. Epub 2020 Apr 23.

Neurology Department, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China. Electronic address:

We identified three unrelated individuals with de novo missense variants in CDK19, encoding a cyclin-dependent kinase protein family member that predominantly regulates gene transcription. These individuals presented with hypotonia, global developmental delay, epileptic encephalopathy, and dysmorphic features. CDK19 is conserved between vertebrate and invertebrate model organisms, but currently abnormalities in CDK19 are not known to be associated with a human disorder. Read More

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http://dx.doi.org/10.1016/j.ajhg.2020.04.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212481PMC
May 2020
10.931 Impact Factor

17p13.3 microdeletion including YWHAE and CRK genes: towards a clinical characterization.

Neurol Sci 2020 Apr 22. Epub 2020 Apr 22.

Dipartimento di Medicina Molecolare e dello Sviluppo, Universita' degli Studi di Siena, viale Bracci 16, 53100, Siena, Italy.

Introduction: The short arm of chromosome 17 is characterized by a high density of low copy repeats, creating the opportunity for non-allelic homologous recombination to occur. Microdeletions of the 17p13.3 region are responsible for neuronal migration disorders including isolated lissencephaly sequence and Miller-Dieker syndrome. Read More

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http://dx.doi.org/10.1007/s10072-020-04424-3DOI Listing

Treatment of infantile spasms: why do we know so little?

Expert Rev Neurother 2020 Apr 22. Epub 2020 Apr 22.

Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University, Via Montpellier 1, 00133 Rome, Italy.

: Infantile spasms (IS) is an epileptic syndrome with typical onset within the first 2 years of life. This condition might be caused by several etiologies. IS is associated with pathological neuronal networks; however, definite hypotheses on neurobiological processes are awaited. Read More

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http://dx.doi.org/10.1080/14737175.2020.1759423DOI Listing

Neutrophil to lymphocyte rate and serum prealbumin maybe predictors for abnormal high blood pressure caused by adrenocorticotropic hormone therapy in children with epileptic spasms: two cases report.

Ann Transl Med 2020 Mar;8(5):248

Department of Neurology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.

Epileptic spasms are a catastrophic form of epilepsy. When epileptic spasms occur under 2-year-old, they may be also called "infantile spasms". Adrenocorticotropic hormone (ACTH) is recommended as first line intervention for the treatment of epileptic spasms without tuberous sclerosis complex. Read More

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http://dx.doi.org/10.21037/atm.2020.01.132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7154432PMC

Infantile Spasms: Outcome in Clinical Studies.

Authors:
Raili Riikonen

Pediatr Neurol 2020 Feb 4. Epub 2020 Feb 4.

Children's Hospital, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland. Electronic address:

Children with infantile spasms are likely to have a poor outcome. Outcome measures for infantile spasms include primary response to treatment, relapse of spasms, neurological development, death, and progression to another type of epilepsy (Consensus Statements of the WEST Delphi Group 2004). This review is based mainly on prospective studies and emphasizes data about the current first-line drugs, adrenocorticotropic hormone, vigabatrin, and prednisolone, taking into account the proportion of patients with known and unknown etiology, which has a very strong effect on seizure outcome. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2020.01.015DOI Listing
February 2020

[Infantile spasms].

Ugeskr Laeger 2020 Apr;182(15)

Infantile spasms (IS) is a severe developmental and epileptic encephalopathy, occurring mainly in children aged 3-18 months. IS have multiple aetiologies, and the treatment differs accordingly. Early diagnosis and treatment may improve the outcome, but many patients are initially misdiagnosed. Read More

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Early developmental electroencephalography abnormalities, neonatal seizures, and induced spasms in a mouse model of tuberous sclerosis complex.

Epilepsia 2020 Apr 10. Epub 2020 Apr 10.

Department of Neurology and Hope Center for Neurological Disorders, Washington University School of Medicine, St Louis, Missouri.

Objective: Tuberous sclerosis complex (TSC) is one of the most common genetic causes of epilepsy. Seizures in TSC typically first present in infancy or early childhood, including focal seizures and infantile spasms. Infantile spasms in TSC are particularly characteristic in its strong responsiveness to vigabatrin. Read More

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http://dx.doi.org/10.1111/epi.16495DOI Listing
April 2020
4.571 Impact Factor

Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation.

Am J Med Genet A 2020 Jun 8;182(6):1460-1465. Epub 2020 Apr 8.

Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.

Congenital disorders of glycosylation (CDG) are metabolic disorders that affect the glycosylation of proteins and lipids. Since glycosylation affects all organs, CDG show a wide spectrum of phenotypes. We present a patient with microcephaly, dysmorphic facies, congenital heart defect, focal epilepsy, infantile spasms, skeletal dysplasia, and a type 1 serum transferrin isoelectrofocusing due to a novel CDG caused by a homozygous variant in the oligosaccharyltransferase complex noncatalytic subunit (OSTC) gene involved in glycosylation and confirmed by serum transferrin electrophoresis. Read More

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http://dx.doi.org/10.1002/ajmg.a.61553DOI Listing

Novel mutation identified in infantile spasm syndrome patient.

Hum Genome Var 2020 31;7. Epub 2020 Mar 31.

2Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Japan.

We report a 7-year-old boy with infantile spasms caused by a novel mutation in the () gene. He showed infantile spasms and hypsarrhythmia on electroencephalogram from early infancy. Brain MRI did not reveal severe malformation of the brain except mild hypoplasia of the corpus callosum. Read More

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http://dx.doi.org/10.1038/s41439-020-0094-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7109071PMC

Comparison of the Effect of High and Low Doses of Adrenocorticotropic Hormone (ACTH) in the Management of Infantile Spasms.

Iran J Child Neurol 2020 ;14(2):17-25

Instructor of Pediatrics Nursing, Nahavand School of Allied Medical Sciences, Hamadan University of Medical Sciences, Hamadan, Iran.

Objectives: Infantile spasms can have irrecoverable adverse effects on a child's brain. Adrenocorticotropic hormone (ACTH) is the most common first-line medication for the treatment of infantile spasms. However, the suitable dose and duration of treatment continue to be debated among specialists. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7085132PMC
January 2020

[FGF12 gene variation in two patients with early infantile epileptic encephalopathy].

Zhonghua Er Ke Za Zhi 2020 Apr;58(4):326-328

Department of Neurology, Guangzhou Women and Children's Medical Center, Guangzhou 510000, China.

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http://dx.doi.org/10.3760/cma.j.cn112140-20190807-00496DOI Listing

Are Epileptic Spasms a Seizure Type for the Insular Region?

Neuropediatrics 2020 Mar 28. Epub 2020 Mar 28.

Department of Pediatrics, Paris Descartes University, Paris, France.

Two patients with insular and striatal postnatal scar had epileptic spasms (ES) that were asymmetrical and the only seizure type, whereas none of the usual ictal symptoms of insular seizures occurred. Ictal electroencephalography (EEG) showed the high-amplitude slow-wave characteristic of ES. Vigabatrin remained efficient for over 4 years for one patient and right into the third decade for the other one. Read More

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http://dx.doi.org/10.1055/s-0040-1702226DOI Listing

Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS).

Orphanet J Rare Dis 2020 Mar 27;15(1):78. Epub 2020 Mar 27.

Department of Pediatrics, Peking University First Hospital, No.1, Xi'anmen Street, Xicheng District, Beijing, 100034, China.

Objective: To summarize and extend the phenotypic characterization of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome, and to discuss genotype-phenotype correlations.

Methods: Collecting clinical information of 17 patients with pathogenic variants in PIGN, PIGA, and PIGT. Genetic studies were performed on all patients. Read More

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http://dx.doi.org/10.1186/s13023-020-01365-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7099766PMC

Effect of interictal epileptiform discharges on EEG-based functional connectivity networks.

Clin Neurophysiol 2020 May 4;131(5):1087-1098. Epub 2020 Mar 4.

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

Objective: Functional connectivity networks (FCNs) based on interictal electroencephalography (EEG) can identify pathological brain networks associated with epilepsy. FCNs are altered by interictal epileptiform discharges (IEDs), but it is unknown whether this is due to the morphology of the IED or the underlying pathological activity. Therefore, we characterized the impact of IEDs on the FCN through simulations and EEG analysis. Read More

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http://dx.doi.org/10.1016/j.clinph.2020.02.014DOI Listing

Neuro-Developmental and Epilepsy Outcomes of Children with West Syndrome: A Cross-Sectional Study from North India.

Ann Indian Acad Neurol 2020 Mar-Apr;23(2):177-181. Epub 2020 Feb 25.

Department of Pediatric Neurology, Lady Harding Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.

Objectives: To assess the neurodevelopmental outcome of West syndrome (WS) in Indian children, who differ in their clinical profile from the western population.

Materials And Methods: This cross-sectional study enrolled children aged 2--5 years with prior diagnosis of WS between November 2013 and March 2015. They were assessed for epilepsy outcome and developmental outcome using developmental profile 3 (DP3) and vineland adaptive behavioral scale II (VABS II). Read More

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http://dx.doi.org/10.4103/aian.AIAN_503_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7061506PMC
February 2020
0.514 Impact Factor

Post-Traumatic West Syndrome due to Abusive Head Trauma in Two Infants with Different Brain Imaging Findings.

Tohoku J Exp Med 2020 03;250(3):167-171

Department of Pediatrics, Nagoya City West Medical Center.

Abusive head trauma (AHT), commonly known as shaken baby syndrome, is a cranial injury of infants and young children. AHT is an important cause of morbidity and mortality in young children, particularly those younger than 12 months of age. We describe two patients who developed West syndrome, which is a severe epilepsy syndrome composed of the triad of infantile spasms, hypsarrhythmia on electroencephalography, and developmental arrest or regression, possibly attributable to AHT. Read More

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http://dx.doi.org/10.1620/tjem.250.167DOI Listing

Transcription and Beyond: Delineating FOXG1 Function in Cortical Development and Disorders.

Front Cell Neurosci 2020 25;14:35. Epub 2020 Feb 25.

Laboratory for Developmental Biology, Department of Biology, Faculty of Education and Integrated Arts and Sciences, Waseda University, Tokyo, Japan.

Forkhead Box G1 () is a member of the Forkhead family of genes with non-redundant roles in brain development, where alteration of this gene's expression significantly affects the formation and function of the mammalian cerebral cortex. haploinsufficiency in humans is associated with prominent differences in brain size and impaired intellectual development noticeable in early childhood, while homozygous mutations are typically fatal. As such, has been implicated in a wide spectrum of congenital brain disorders, including the congenital variant of Rett syndrome, infantile spasms, microcephaly, autism spectrum disorder (ASD) and schizophrenia. Read More

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http://dx.doi.org/10.3389/fncel.2020.00035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7052011PMC
February 2020

Infantile Alexander Disease Presenting with Hydrocephalus and Epileptic Spasms.

Indian J Pediatr 2020 Mar 6. Epub 2020 Mar 6.

Department of Neuroradiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India.

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http://dx.doi.org/10.1007/s12098-020-03254-7DOI Listing
March 2020
0.919 Impact Factor

Infantile Spasms: Opportunities to Improve Care.

Semin Neurol 2020 Apr 6;40(2):236-245. Epub 2020 Mar 6.

Department of Pediatrics and Neurology, University of Colorado, Aurora, Colorado.

Infantile spasm (IS) is a distinct epilepsy syndrome characterized by epileptic spasms (the clinical seizure type) and hypsarrhythmia (the electrographic abnormality). IS is frequently accompanied by impaired neurodevelopment and is often associated with structural, genetic, or metabolic etiologies. Prompt treatment of this severe epileptic encephalopathy improves long-term outcomes but remains elusive in many situations. Read More

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http://dx.doi.org/10.1055/s-0040-1705121DOI Listing

Limited efficacy of zonisamide in the treatment of refractory infantile spasms.

Epilepsia Open 2020 Mar 24;5(1):121-126. Epub 2020 Jan 24.

Department of Pediatrics (Division of Pediatric Neurology) David Geffen School of Medicine and UCLA Mattel Children's Hospital Los Angeles California.

A series of relatively small studies collectively suggest that zonisamide may be effective in the treatment of infantile spasms. Using a large single-center cohort of children with infantile spasms, we set out to evaluate the efficacy and safety of zonisamide. We retrospectively identified all patients with infantile spasms who were treated with zonisamide at our center. Read More

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http://dx.doi.org/10.1002/epi4.12381DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7049796PMC

Epilepsy and Neurodevelopmental Comorbidities in Tuberous Sclerosis Complex: A Natural History Study.

Pediatr Neurol 2020 May 4;106:10-16. Epub 2020 Feb 4.

Division of Pediatric Epilepsy, Department of Neurology, Minnesota Epilepsy Group, P.A. and Children's Hospitals and Clinics of Minnesota, St. Paul, Minnesota.

Background: We studied the natural history, genotype influence, and inter-relationship of epilepsy and neuropsychiatric disorders in tuberous sclerosis complex.

Methods: Patients were identified using the TSC Natural History Database, the largest repository of longitudinally studied patients enrolled by the TSC Clinics Consortium.

Results: A cohort of 1657 TSC Natural History Database patients was analyzed. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.12.016DOI Listing

Mortality in infantile spasms: A hospital-based study.

Epilepsia 2020 Apr 5;61(4):702-713. Epub 2020 Mar 5.

Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.

Objective: To determine risk factors and causes for mortality during childhood in patients with infantile spasms (IS). We describe the overall goals of care for those who died.

Methods: This is a retrospective chart review of IS patients born between 2000 and 2011. Read More

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http://dx.doi.org/10.1111/epi.16468DOI Listing

Radiprodil, a NR2B negative allosteric modulator, from bench to bedside in infantile spasm syndrome.

Ann Clin Transl Neurol 2020 Mar 27;7(3):343-352. Epub 2020 Feb 27.

UCB Pharma, Braine-L'Alleud, Belgium.

Objective: Infantile spasm syndrome (ISS) is an epileptic encephalopathy without established treatment after the failure to standard of care based on steroids and vigabatrin. Converging lines of evidence indicating a role of NR2B subunits of the N-methyl-D-aspartate (NMDA) receptor on the onset of spams in ISS patients, prompted us to test radiprodil, a negative allosteric NR2B modulator in preclinical seizure models and in infants with ISS.

Methods: Radiprodil has been tested in three models, including pentylenetetrazole-induced seizures in rats across different postnatal (PN) ages. Read More

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http://dx.doi.org/10.1002/acn3.50998DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7085998PMC

[Clinical phenotypes of epilepsy associated with GABRA1 gene variants].

Zhonghua Er Ke Za Zhi 2020 Feb;58(2):118-122

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.

To summarize the clinical phenotypes of epilepsy in patients with GABRA1 gene variants. A total of 11 epileptic patients (4 boys and 7 girls) who were treated in the Department of Pediatrics, Peking University First Hospital from March 2016 to July 2019 and detected with GABRA1 gene heterozygous pathogenic variants by targeted next-generation sequencing were enrolled. The features of clinical manifestations, electroencephalogram (EEG), and neuroimaging were analyzed retrospectively. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2020.02.010DOI Listing
February 2020

Medication Utilization Patterns 90 Days Before Initiation of Treatment with Repository Corticotropin Injection in Patients with Infantile Spasms.

Pediatric Health Med Ther 2019 31;10:195-207. Epub 2019 Dec 31.

CHOICE Institute, School of Pharmacy, University of Washington, Seattle, WA, USA.

Introduction: Infantile spasms (IS) is a rare and devastating form of early childhood epilepsy. Two drugs are approved in the United States for treatment of IS, H.P. Read More

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http://dx.doi.org/10.2147/PHMT.S222010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6997416PMC
December 2019

ACTON PROLONGATUM® suppresses spasms head to head with Acthar® Gel in the model of infantile spasms.

Epilepsy Behav 2020 Apr 21;105:106950. Epub 2020 Feb 21.

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, IS) are a rare epilepsy syndrome with dire prognosis. Current treatments, effective in about 55% of cases, include hormonal therapy (adrenocorticotropic hormone [ACTH] = adrenocorticotropin or corticosteroids) or vigabatrin (also in combination with hormones). In addition to their limited efficacy, these treatments may also carry serious adverse effects. Read More

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http://dx.doi.org/10.1016/j.yebeh.2020.106950DOI Listing

Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams-Beuren syndrome.

Am J Med Genet A 2020 May 20;182(5):1008-1020. Epub 2020 Feb 20.

Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland.

Williams-Beuren syndrome (WBS) is a multisystem disorder caused by a hemizygous deletion on 7q11.23 encompassing 26-28 genes. An estimated 2-5% of patients have "atypical" deletions, which extend in the centromeric and/or telomeric direction from the WBS critical region. Read More

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http://dx.doi.org/10.1002/ajmg.a.61522DOI Listing

Early epilepsy in children with Zika-related microcephaly in a cohort in Recife, Brazil: Characteristics, electroencephalographic findings, and treatment response.

Epilepsia 2020 Mar 17;61(3):509-518. Epub 2020 Feb 17.

University of Pernambuco, Recife, Brazil.

Objective: To estimate the incidence of epilepsy in children with Zika-related microcephaly in the first 24 months of life; to characterize the associated clinical and electrographic findings; and to summarize the treatment responses.

Methods: We followed a cohort of children, born during the 2015-2016 Zika virus (ZIKV) epidemic in Brazil, with congenital microcephaly and evidence of congenital ZIKV infection on neuroimaging and/or laboratory testing. Neurological assessments were performed at ≤3, 6, 12, 15, 18, 21, and 24 months of life. Read More

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http://dx.doi.org/10.1111/epi.16444DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7155083PMC

Corticosteroids and ACTH for infantile spasms: are we closer to equipoise?

Dev Med Child Neurol 2020 May 12;62(5):540-541. Epub 2020 Feb 12.

Department of Neurology and Pediatrics, Johns Hopkins Hospital, Baltimore, MD, USA.

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http://dx.doi.org/10.1111/dmcn.14483DOI Listing

Novel Mutation in ATP6V1A Gene with Infantile Spasms in an Indian Boy.

Authors:
Razia A Kadwa

Neuropediatrics 2020 Feb 11. Epub 2020 Feb 11.

Department of Pediatric Neurology, Ankura Hospital for Women and Children, Hyderabad, Telangana, India.

A 7-month-old boy with a novel mutation in gene is described. The gene has been recently identified to be associated with epileptic encephalopathies. Clinical features in this patient are different from cases reported so far, thus broadening the spectrum of -associated epileptic encephalopathy. Read More

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http://dx.doi.org/10.1055/s-0040-1701657DOI Listing
February 2020

Early infantile epileptic-dyskinetic encephalopathy due to biallelic mutations.

Neurol Genet 2020 Feb 2;6(1):e387. Epub 2020 Jan 2.

Pediatric Neurology (A.V., T.P., S.C., E. Parrini, D.M., S.V., R.G.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Metabolic and Muscular Unit (E. Procopio), Meyer Children's Hospital, University of Florence; Department of Medical and Surgical Science (A.G.), University of Modena and Reggio Emilia; Pediatric Immunology (G.M., C.A.), Department of Health Sciences, Meyer Children's Hospital, University of Florence; and IRCCS Stella Maris (R.G.), Pisa, Italy.

Objective: To describe clinical, biochemical, and molecular genetic findings in a large inbred family in which 4 children with a severe early-onset epileptic-dyskinetic encephalopathy, with suppression burst EEG, harbored homozygous mutations of phosphatidylinositol glycan anchor biosynthesis, class P (), a member of the large glycosylphosphatidylinositol (GPI) anchor biosynthesis gene family.

Methods: We studied clinical features, EEG, brain MRI scans, whole-exome sequencing (WES), and measured the expression of a subset of GPI-anchored proteins (GPI-APs) in circulating granulocytes using flow cytometry.

Results: The 4 affected children exhibited a severe neurodevelopmental disorder featuring severe hypotonia with early dyskinesia progressing to quadriplegia, associated with infantile spasms, focal, tonic, and tonic-clonic seizures and a burst suppression EEG pattern. Read More

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http://dx.doi.org/10.1212/NXG.0000000000000387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6984131PMC
February 2020

expansion mutation perturbs cortical development by augmenting apoptosis without activating innate immunity in a mouse model of X-linked infantile spasms syndrome.

Dis Model Mech 2020 03 30;13(3). Epub 2020 Mar 30.

Developmental Neurogenetics Laboratory, Department of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA

X-linked infantile spasms syndrome (ISSX) is a clinically devastating developmental epileptic encephalopathy with life-long impact. , a mouse model of the most common triplet-repeat expansion mutation of , exhibits neonatal spasms, electrographic phenotypes and abnormal migration of GABAergic interneuron subtypes. Neonatal presymptomatic treatment with 17β-estradiol (E2) in reduces spasms and modifies progression of epilepsy. Read More

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http://dx.doi.org/10.1242/dmm.042515DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7132796PMC

Outcomes among patients with infantile spasms treated with hormonal therapy and adjuvant topiramate versus hormonal therapy alone.

Epileptic Disord 2020 Feb;22(1):33-38

Department of Neurology, Barrow Neurological Institute at Phoenix Children's Hospital, Phoenix, Arizona.

Hormonal therapy is the first-line treatment for infantile spasms and is sometimes used in combination with topiramate for better seizure control and potentially improved developmental outcomes. Retrospective review of pediatric patients with infantile spasms, with data compiled on patient sex, age at onset, etiology, electroencephalographic and imaging findings, topiramate use, spasm resolution (at one, six, and 12 months), and developmental outcome (at 12 months). Of 105 patients screened, 55 (28 female) met inclusion criteria (28 [51%] had spasms with known etiology and 27 [49%] had spasms with unknown etiology). Read More

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http://dx.doi.org/10.1684/epd.2020.1133DOI Listing
February 2020

Clinical features and electroclinical evolution in 22 cases with epileptic spasms without hypsarrhythmia.

Epileptic Disord 2020 Feb;22(1):73-82

Division of Neurology, Saitama Children's Medical Center.

This study aimed to investigate the general presentation of epileptic spasms without hypsarrhythmia (ESwoH) and retrospectively determine whether there are differences in treatment effects related to ACTH therapy, long-term seizure outcome, and evolution of EEG features according to pre-treatment EEG patterns. According to the pattern of background activity, we divided our cohort into two groups: Group 1: normal background activity or with localized intermittent slow waves; Group 2: intermittent slow waves appearing generalized or in two or more lobes. Subjects included 22 children (Group 1: n=10; Group 2: n=12) diagnosed with ESwoH who received treatment from 2007 to 2017. Read More

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http://dx.doi.org/10.1684/epd.2020.1130DOI Listing
February 2020

Malignant Infantile Osteopetrosis: A Case Report.

Cureus 2020 Jan 21;12(1):e6725. Epub 2020 Jan 21.

Pediatrics, Imam Abdulrahman Bin Faisal University, Dammam, SAU.

Osteopetrosis is a rare genetic disease of bone resorption. It includes a variety of hereditary skeletal disorders that have the main radiographic feature of increased bone density and thickness due to differentiation or functional defects in osteoclast. The clinical presentation varies widely based on the type of osteopetrosis and ranges in severity from asymptomatic to a fatal course. Read More

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http://dx.doi.org/10.7759/cureus.6725DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6984186PMC
January 2020

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.

Am J Hum Genet 2020 02 30;106(2):246-255. Epub 2020 Jan 30.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, 40225 Düsseldorf, Germany. Electronic address:

Ral (Ras-like) GTPases play an important role in the control of cell migration and have been implicated in Ras-mediated tumorigenicity. Recently, variants in RALA were also described as a cause of intellectual disability and developmental delay, indicating the relevance of this pathway to neuropediatric diseases. Here, we report the identification of bi-allelic variants in RALGAPA1 (encoding Ral GTPase activating protein catalytic alpha subunit 1) in four unrelated individuals with profound neurodevelopmental disability, muscular hypotonia, feeding abnormalities, recurrent fever episodes, and infantile spasms . Read More

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http://dx.doi.org/10.1016/j.ajhg.2020.01.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7010976PMC
February 2020
10.931 Impact Factor