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Infantile spasms

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https://www.readbyqxmd.com/read/28088035/diagnosis-treatment-and-outcomes-of-infantile-spasms-in-the-trisomy-21-population
#1
Christopher W Beatty, Joanna E Wrede, Heidi K Blume
PURPOSE: To determine if there are differences in the timing of diagnosis and response to treatment between infants with infantile spasms (IS) and Trisomy 21 (T21) and those with idiopathic IS. METHOD: This was a retrospective study evaluating the time from onset of IS to diagnosis, treatment of IS, time from treatment to resolution of IS, and development of epilepsy in children with T21 and IS compared to children with idiopathic IS. RESULTS: Thirteen children with T21 and IS were identified over a 10 year period and compared to 32 children in the control group...
December 23, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28078312/biallelic-scn10a-mutations-in-neuromuscular-disease-and-epileptic-encephalopathy
#2
Marios Kambouris, Julien Thevenon, Ariane Soldatos, Allison Cox, Joshi Stephen, Tawfeg Ben-Omran, Yasser Al-Sarraj, Hala Boulos, William Bone, James C Mullikin, Alice Masurel-Paulet, Judith St-Onge, Yannis Dufford, Corrine Chantegret, Christel Thauvin-Robinet, Jamil Al-Alami, Laurence Faivre, Jean Baptiste Riviere, William A Gahl, Alexander G Bassuk, May Christine V Malicdan, Hatem El-Shanti
OBJECTIVES: Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the other of Egyptian ethnicity presenting with neonatal hypotonia, bradycardia, and recurrent seizures, were evaluated for the causative gene mutation. METHODS AND RESULTS: Homozygosity mapping and whole exome sequencing (WES) identified damaging homozygous variants in SCN10A, namely c...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28043061/fars2-mutation-and-epilepsy-possible-link-with-early-onset-epileptic-encephalopathy
#3
Jae So Cho, Seung Hyo Kim, Ha Young Kim, Taesu Chung, Dongsup Kim, Sesong Jang, Seung Bok Lee, Seung Keun Yoo, Jongyeon Shin, Jong-Il Kim, Hunmin Kim, Hee Hwang, Jong-Hee Chae, Jieun Choi, Ki Joong Kim, Byung Chan Lim
Early-onset epileptic encephalopathy (EOEE) consists of a heterogeneous group of epilepsy phenotypes. Recent technological advances in molecular biology have also rapidly expanded the genotype of EOEE. Genes involved in diverse molecular pathways, including ion channels, synaptic structure, transcription regulation, and cellular growth, have been implicated in EOEE. Mitochondrial aminoacyl tRNA synthetase, which plays a key role in mitochondrial protein synthesis by attaching 20 different amino acids to the tRNA tail, has been recently linked with the epilepsy phenotype...
December 2, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/28018440/glucose-transport-1-deficiency-presenting-as-infantile-spasms-with-a-mutation-identified-in-exon-9-of-slc2a1
#4
Hyun Hee Lee, Yun Jung Hur
Glucose transport 1 (GLUT-1) deficiency is a rare syndrome caused by mutations in the glucose transporter 1 gene (SLC2A1) and is characterized by early-onset intractable epilepsy, delayed development, and movement disorder. De novo mutations and several hot spots in N34, G91, R126, R153, and R333 of exons 2, 3, 4, and 8 of SLC2A1 are associated with this condition. Seizures, one of the main clinical features of GLUT-1 deficiency, usually develop during infancy. Most patients experience brief and subtle myoclonic jerk and focal seizures that evolve into a mixture of different types of seizures, such as generalized tonic-clonic, absence, myoclonic, and complex partial seizures...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28007393/fournier-s-gangrene-during-acth-therapy
#5
Shingo Numoto, Hirokazu Kurahashi, Yoshiteru Azuma, Atsushi Numaguchi, Kozaburo Nakahara, Takahisa Tainaka, Michihiko Takasu, Kiyoshi Yamakawa, Nozomi Nago, Taichiro Muto, Yoshiro Kitagawa, Akihisa Okumura
Fournier's gangrene is an infectious necrotizing fasciitis of the perineal, genital, or perianal regions and is uncommon in children. Adrenocorticotropic hormone (ACTH) is effective for the treatment of infantile spasms; however, suppression of immune function is one of the major adverse effects of this approach. We encountered a 2-month-old boy with infantile spasms that had been treated with ACTH and had developed complicating Fournier's gangrene. Strangulation of a right inguinal hernia was observed after ACTH treatment...
December 19, 2016: Brain & Development
https://www.readbyqxmd.com/read/28004629/manifestations-of-tuberous-sclerosis-complex-the-experience-of-a-provincial-clinic
#6
Colin Wilbur, Chinnuwat Sanguansermsri, Hedi Chable, Mihaela Anghelina, Sharon Peinhof, Kelly Anderson, Paul Steinbok, Ash Singhal, Anita Datta, Mary B Connolly
BACKGROUND: Tuberous sclerosis complex (TSC) is a neurocutaneous disorder with a wide spectrum of manifestations. Recent consensus recommendations stress the importance of multidisciplinary management of children with TSC. The objective of this study was to examine the manifestations of TSC at a large referral centre to determine the care needs of this population. METHODS: A retrospective, systematic chart review was performed of children with TSC managed at British Columbia Children's Hospital...
January 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/27997354/applications-of-transcranial-direct-current-stimulation-in-children-and-pediatrics
#7
Guadalupe Nathzidy Rivera-Urbina, Michael A Nitsche, Carmelo M Vicario, Andrés Molero-Chamizo
Transcranial direct current stimulation (tDCS) is a neuromodulatory noninvasive brain stimulation tool with potential to increase or reduce regional and remote cortical excitability. Numerous studies have shown the ability of this technique to induce neuroplasticity and to modulate cognition and behavior in adults. Clinical studies have also demonstrated the ability of tDCS to induce therapeutic effects in several central nervous system disorders. However, knowledge about its ability to modulate brain functions in children or induce clinical improvements in pediatrics is limited...
December 20, 2016: Reviews in the Neurosciences
https://www.readbyqxmd.com/read/27989601/epileptic-spasms-175-years-on-trying-to-teach-an-old-dog-new-tricks
#8
Jo M Wilmshurst, Roland C Ibekwe, Finbar J K O'Callaghan
PURPOSE: This text provides an overview of how the condition "infantile spasms" has evolved in the last 175 years. METHOD: Key references are summarised to assimilate this review. RESULTS: Infantile spasms, first described by Dr West in 1841, has undergone extensive investigation to understand the pathogenesis, aetiologies, optimal intervention and most likely prognosis for the affected child. The terminology has recently evolved such that the preferred term for the condition is now "epileptic spasms" in recognition of the fact that cases can present outside infancy...
December 6, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27940146/atonic-elements-combined-or-uncombined-with-epileptic-spasms-in-infantile-spasms
#9
Jiao Xue, Ping Qian, Hui Li, Haipo Yang, Xiaoyan Liu, Yuehua Zhang, Zhixian Yang
OBJECTIVE: To study the atonic elements combined or uncombined with epileptic spasms in infantile spasms. METHODS: The demographic data, clinical characteristics, electroencephalogram (EEG), and polyelectromyography (PEMG) features were analyzed in 12 infantile spasm patients with atonic elements. RESULTS: A total of 29 EEGs were recorded. Hypsarrhythmia or hypsarrhythmia variants were identified during interictal EEG. Insular or clustered epileptic spasms occurred in all...
January 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/27908655/neuroimaging-abnormalities-in-a-child-with-infantile-spasms-on-high-dose-vigabatrin
#10
Lisa R Sun, Thangamadhan Bosemani, Constance L Smith-Hicks
No abstract text is available yet for this article.
October 13, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27896282/a-patient-with-lissencephaly-developmental-delay-and-infantile-spasms-due-to-de-novo-heterozygous-mutation-of-kif2a
#11
Guoling Tian, Ana G Cristancho, Holly A Dubbs, Grant T Liu, Nicholas J Cowan, Ethan M Goldberg
BACKGROUND: Microtubules are dynamic polymers of α/β tubulin heterodimers that play a critical role in cerebral cortical development, by regulating neuronal migration, differentiation, and morphogenesis. Mutations in genes that encode either α- or β-tubulin or a spectrum of proteins involved in the regulation of microtubule dynamics lead to clinically devastating malformations of cortical development, including lissencephaly. METHODS: This is a single case report or a patient with lissencephaly, developmental delay, nystagmus, persistent hyperplastic primary vitreous, and infantile spasms, and undertook a neurogenetic workup...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27878438/interdependence-of-clinical-factors-predicting-cognition-in-children-with-tuberous-sclerosis-complex
#12
I E Overwater, B J H Verhaar, H F Lingsma, G C B Bindels-de Heus, A M W van den Ouweland, M Nellist, L W Ten Hoopen, Y Elgersma, H A Moll, M C Y de Wit
Cognitive development in patients with tuberous sclerosis complex is highly variable. Predictors in the infant years would be valuable to counsel parents and to support development. The aim of this study was to confirm factors that have been reported to be independently correlated with cognitive development. 102 patients included in this study were treated at the ENCORE-TSC expertise center of the Erasmus Medical Center-Sophia Children's Hospital. Data from the first 24 months of life were used, including details on epilepsy, motor development and mutation status...
November 22, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27864823/aberrant-mtor-signaling-and-disrupted-autophagy-the-missing-link-in-potential-vigabatrin-associated-ocular-toxicity
#13
K R Vogel, G R Ainslie, P L Pearl, K M Gibson
Vigabatrin (VGB; γ-vinylGABA) is a unique antiepileptic directly elevating CNS GABA via inactivation of the GABA metabolic enzyme GABA-transaminase. VGB is effective in treating infantile spasms, a rare seizure disorder associated with significant morbidity. The potential for unexplained bilateral constriction of the visual field associated with VGB intervention can severely limit its temporal utility. Removal of this potential adverse effect with adjuvant intervention(s) would represent a significant advance in epilepsy therapeutics...
November 19, 2016: Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/27861786/infantile-spasms-and-encephalopathy-without-preceding-neonatal-seizures-caused-by-kcnq2-r198q-a-gain-of-function-variant
#14
John J Millichap, Francesco Miceli, Michela De Maria, Cynthia Keator, Nishtha Joshi, Baouyen Tran, Maria Virginia Soldovieri, Paolo Ambrosino, Vandana Shashi, Mohamad A Mikati, Edward C Cooper, Maurizio Taglialatela
Variants in KCNQ2 encoding for Kv 7.2 neuronal K(+) channel subunits lead to a spectrum of neonatal-onset epilepsies, ranging from self-limiting forms to severe epileptic encephalopathy. Most KCNQ2 pathogenic variants cause loss-of-function, whereas few increase channel activity (gain-of-function). We herein provide evidence for a new phenotypic and functional profile in KCNQ2-related epilepsy: infantile spasms without prior neonatal seizures associated with a gain-of-function gene variant. With use of an international registry, we identified four unrelated patients with the same de novo heterozygous KCNQ2 c...
January 2017: Epilepsia
https://www.readbyqxmd.com/read/27858369/cerebrotendinous-xanthomatosis-presenting-with-infantile-spasms-and-intellectual-disability
#15
Austin Larson, James D Weisfeld-Adams, Tim A Benke, Penelope E Bonnen
Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism leading to progressive multisystem disease. Symptoms often begin in the first decade of life with chronic diarrhea, cataracts, developmental delay, intellectual disability, and cerebellar or pyramidal dysfunction. Later manifestations include tendon xanthomas, polyneuropathy, and abnormal neuroimaging. Pathogenic biallelic variants in CYP27A1 leading to compromised function of sterol 27-hydroxylase result in accumulation of detectable toxic intermediates of bile acid synthesis rendering both genetic and biochemical testing effective diagnostic tools...
November 18, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27852007/apc-conditional-knock-out-mouse-is-a-model-of-infantile-spasms-with-elevated-neuronal-%C3%AE-catenin-levels-neonatal-spasms-and-chronic-seizures
#16
Antonella Pirone, Jonathan Alexander, Lauren A Lau, David Hampton, Andrew Zayachkivsky, Amy Yee, Audrey Yee, Michele H Jacob, Chris G Dulla
Infantile spasms (IS) are a catastrophic childhood epilepsy syndrome characterized by flexion-extension spasms during infancy that progress to chronic seizures and cognitive deficits in later life. The molecular causes of IS are poorly defined. Genetic screens of individuals with IS have identified multiple risk genes, several of which are predicted to alter β-catenin pathways. However, evidence linking malfunction of β-catenin pathways and IS is lacking. Here, we show that conditional deletion in mice of the adenomatous polyposis coli gene (APC cKO), the major negative regulator of β-catenin, leads to excessive β-catenin levels and multiple salient features of human IS...
February 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/27806796/-dynamin-1-related-infantile-spasms-a-case-report-and-review-of-literature
#17
X L Deng, F Yin, C L Zhang, Y P Ma, F He, L W Wu, J Peng
Objective: To analyze the clinical and gene mutation characteristics of dynamin-1 (DNM1)-related infantile spasms. Method: Clinical, laboratory and genetic data of one case of DNM1-related infantile spasms diagnosed by Xiangya Hospital in September 2015 were analyzed.Through taking "Dynamin-1" "DNM1" as key words to search at CNKI, Wanfang, PubMed and OMIM to date (April 2016), the clinical characteristics of 9 reported cases of DNM1-related epileptic encephalopathy in international literature with our case were reviewed...
November 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27798109/embryonic-forebrain-transcriptome-of-mice-with-polyalanine-expansion-mutations-in-the-arx-homeobox-gene
#18
Tessa Mattiske, Kristie Lee, Jozef Gecz, Gaelle Friocourt, Cheryl Shoubridge
The Aristaless-related homeobox (ARX) gene encodes a paired-type homeodomain transcription factor with critical roles in embryonic development. Mutations in ARX give rise to intellectual disability (ID), epilepsy and brain malformation syndromes. To capture the genetics and molecular disruptions that underpin the ARX-associated clinical phenotypes, we undertook a transcriptome wide RNASeq approach to analyse developing (12.5 dpc) telencephalon of mice modelling two recurrent polyalanine expansion mutations with different phenotypic severities in the ARX gene...
October 25, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27789573/a-de-novo-missense-mutation-of-gabrb2-causes-early-myoclonic-encephalopathy
#19
Atsushi Ishii, Jing-Qiong Kang, Cara C Schornak, Ciria C Hernandez, Wangzhen Shen, Joseph C Watkins, Robert L Macdonald, Shinichi Hirose
BACKGROUND: Early myoclonic encephalopathy (EME), a disease with a devastating prognosis, is characterised by neonatal onset of seizures and massive myoclonus accompanied by a continuous suppression-burst EEG pattern. Three genes are associated with EMEs that have metabolic features. Here, we report a pathogenic mutation of an ion channel as a cause of EME for the first time. METHODS: Sequencing was performed for 214 patients with epileptic seizures using a gene panel with 109 genes that are known or suspected to cause epileptic seizures...
October 27, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27774450/effects-of-a-mutation-in-the-hspe1-gene-encoding-the-mitochondrial-co-chaperonin-hsp10-and-its-potential-association-with-a-neurological-and-developmental-disorder
#20
Anne S Bie, Paula Fernandez-Guerra, Rune I D Birkler, Shahar Nisemblat, Dita Pelnena, Xinping Lu, Joshua L Deignan, Hane Lee, Naghmeh Dorrani, Thomas J Corydon, Johan Palmfeldt, Liga Bivina, Abdussalam Azem, Kristin Herman, Peter Bross
We here report molecular investigations of a missense mutation in the HSPE1 gene encoding the HSP10 subunit of the HSP60/ HSP10 chaperonin complex that assists protein folding in the mitochondrial matrix. The mutation was identified in an infant who came to clinical attention due to infantile spasms at 3 months of age. Clinical exome sequencing revealed heterozygosity for a HSPE1 NM_002157.2:c.217C>T de novo mutation causing replacement of leucine with phenylalanine at position 73 of the HSP10 protein. This variation has never been observed in public exome sequencing databases or the literature...
2016: Frontiers in Molecular Biosciences
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