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epilepsy encephalopathy acth

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https://www.readbyqxmd.com/read/27806796/-dynamin-1-related-infantile-spasms-a-case-report-and-review-of-literature
#1
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/27743886/a-case-of-early-onset-epileptic-encephalopathy-with-de-novo-mutation-in-slc35a2-clinical-features-and-treatment-for-epilepsy
#2
Tomokazu Kimizu, Yukitoshi Takahashi, Taikan Oboshi, Asako Horino, Takayoshi Koike, Shinsaku Yoshitomi, Tatsuo Mori, Tokito Yamaguchi, Hiroko Ikeda, Nobuhiko Okamoto, Mitsuko Nakashima, Hirotomo Saitsu, Mitsuhiro Kato, Naomichi Matsumoto, Katsumi Imai
INTRODUCTION: Mutations of SLC35A2 that encodes Golgi-localized Uridine diphosphate (UDP)-galactose transporter at Xp11.23 lead to congenital disorders of glycosylation (CDG). Although patients with CDG generally have diverse systemic symptoms, patients with a SLC35A2 mutation manifest predominantly disorders of the central nervous system (CNS). CASE REPORT: A female infant aged 12months was referred to our center because of intractable seizures. The patient was born with birth weight of 3228g after 40weeks of unremarkable gestation...
October 12, 2016: Brain & Development
https://www.readbyqxmd.com/read/27615012/response-to-second-treatment-after-initial-failed-treatment-in-a-multicenter-prospective-infantile-spasms-cohort
#3
Kelly G Knupp, Erin Leister, Jason Coryell, Katherine C Nickels, Nicole Ryan, Elizabeth Juarez-Colunga, William D Gaillard, John R Mytinger, Anne T Berg, John Millichap, Douglas R Nordli, Sucheta Joshi, Renée A Shellhaas, Tobias Loddenkemper, Dennis Dlugos, Elaine Wirrell, Joseph Sullivan, Adam L Hartman, Eric H Kossoff, Zachary M Grinspan, Lorie Hamikawa
OBJECTIVE: Infantile spasms (IS) represent a severe epileptic encephalopathy presenting in the first 2 years of life. Recommended first-line therapies (hormonal therapy or vigabatrin) often fail. We evaluated response to second treatment for IS in children in whom the initial therapy failed to produce both clinical remission and electrographic resolution of hypsarhythmia and whether time to treatment was related to outcome. METHODS: The National Infantile Spasms Consortium established a multicenter, prospective database enrolling infants with new diagnosis of IS...
November 2016: Epilepsia
https://www.readbyqxmd.com/read/27596103/current-treatment-options-for-early-onset-pediatric-epileptic-encephalopathies
#4
REVIEW
Rolla Shbarou
The management of early-onset, genetically determined epilepsies is often challenging. First-line anti-epileptic drugs (AEDs) often include phenobarbital, phenytoin, oxcarbazepine, carbamazepine, clonazepam, levetiracetam, and valproic acid. Combinations of medications are used in these patients with often intractable seizures, and they include topiramate, clobazam, felbamate, lacosamide, lamotrigine, rufinamide, vigabatrin, ACTH, oral steroids, and the ketogenic diet. Vagus nerve stimulator therapy offers some relief in selected patients...
October 2016: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/26704170/response-to-treatment-in-a-prospective-national-infantile-spasms-cohort
#5
Kelly G Knupp, Jason Coryell, Katherine C Nickels, Nicole Ryan, Erin Leister, Tobias Loddenkemper, Zachary Grinspan, Adam L Hartman, Eric H Kossoff, William D Gaillard, John R Mytinger, Sucheta Joshi, Renée A Shellhaas, Joseph Sullivan, Dennis Dlugos, Lorie Hamikawa, Anne T Berg, John Millichap, Douglas R Nordli, Elaine Wirrell
OBJECTIVE: Infantile spasms are seizures associated with a severe epileptic encephalopathy presenting in the first 2 years of life, and optimal treatment continues to be debated. This study evaluates early and sustained response to initial treatments and addresses both clinical remission and electrographic resolution of hypsarrhythmia. Secondarily, it assesses whether response to treatment differs by etiology or developmental status. METHODS: The National Infantile Spasms Consortium established a multicenter, prospective database enrolling infants with new diagnosis of infantile spasms...
March 2016: Annals of Neurology
https://www.readbyqxmd.com/read/26122601/summary-of-recommendations-for-the-management-of-infantile-seizures-task-force-report-for-the-ilae-commission-of-pediatrics
#6
REVIEW
Jo M Wilmshurst, William D Gaillard, Kollencheri Puthenveettil Vinayan, Tammy N Tsuchida, Perrine Plouin, Patrick Van Bogaert, Jaime Carrizosa, Maurizio Elia, Dana Craiu, Nebojsa J Jovic, Doug Nordli, Deborah Hirtz, Virginia Wong, Tracy Glauser, Eli M Mizrahi, J Helen Cross
Evidence-based guidelines, or recommendations, for the management of infants with seizures are lacking. A Task Force of the Commission of Pediatrics developed a consensus document addressing diagnostic markers, management interventions, and outcome measures for infants with seizures. Levels of evidence to support recommendations and statements were assessed using the American Academy of Neurology Guidelines and the Grading of Recommendations Assessment, Development and Evaluation (GRADE) system. The report contains recommendations for different levels of care, noting which would be regarded as standard care, compared to optimal care, or "state of the art" interventions...
August 2015: Epilepsia
https://www.readbyqxmd.com/read/25953826/cardiac-autonomic-dysfunction-in-patients-with-infantile-spasm-and-the-effect-of-adrenocorticotropic-hormone-treatment
#7
Pinar Gencpinar, Abdullah Kocabas, Özgür Duman, Nihal Olgaç Dündar, Senay Haspolat, Fırat Kardelen
Infantile spasm is an age-dependent epileptic-encephalopathy syndrome. Cardiac autonomic function is frequently altered in epilepsy. In this study, we examined heart rate variability in patients with infantile spasm before and after treatment. Nineteen patients with infantile spasm and 13 healthy comparisons were enrolled in the study. Cardiac rhythm was recorded with a Holter device for 24 hours before adrenocorticotropic hormone (ACTH) (Synacthen depot) and B6 vitamin administration and 1 month after treatment...
February 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/25500573/lama2-related-congenital-muscular-dystrophy-complicated-by-west-syndrome
#8
Ana Camacho, Noemí Núñez, Gabriele Dekomien, Aurelio Hernández-Laín, Ana Martínez de Aragón, Rogelio Simón
BACKGROUND: Mutations in the LAMA2 gene cause autosomal recessive laminin α2 related congenital muscular dystrophy. In patients with partial laminin α2 deficiency the phenotype is usually milder than in those with absent protein. Apart from the typical white matter abnormalities, there is an increased risk of cerebral complications such as epilepsy and mental retardation, despite a structurally normal brain. METHODS/RESULTS: We present a patient with primary partial laminin α2 deficiency due to a homozygous novel LAMA2 missense mutation who developed West syndrome in his first year of life...
March 2015: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/25363350/a-storm-of-fast-40-150hz-oscillations-during-hypsarrhythmia-in-west-syndrome
#9
Katsuhiro Kobayashi, Tomoyuki Akiyama, Makio Oka, Fumika Endoh, Harumi Yoshinaga
OBJECTIVE: Fast oscillations (FOs) were first explored from scalp electroencephalographic (EEG) data from hypsarrhythmia in West syndrome (infantile spasms) to investigate the meaning of FOs in this epileptic encephalopathy. METHODS: In 17 infants with West syndrome, we conservatively detected fast frequency peaks that stood out from the time-frequency spectral background with square root power > 1µV (spectral criterion) and corresponded to clear FOs with at least 4 oscillations in the filtered EEG traces (waveform criterion) in sleep EEGs...
January 2015: Annals of Neurology
https://www.readbyqxmd.com/read/25333864/epileptic-encephalopathy-with-continuous-spikes-and-waves-in-the-occipito-temporal-region-during-slow-wave-sleep-in-two-patients-with-acquired-kanji-dysgraphia
#10
Ichiro Kuki, Hisashi Kawawaki, Shin Okazaki, Hiroko Ikeda, Kiyotaka Tomiwa
We encountered two patients with acquired Kanji dysgraphia in whom continuous spikes and waves, dominant in the occipito-temporal region, were recorded during slow-wave sleep. Electrical status epileptics during sleep (ESES) was demonstrated on overnight electroencephalography, and dipoles clustered in and around the posterior inferior temporal cortex on magnetoencephalography. Functional neuroimaging suggested dysfunction in the left posterior temporal lobe, including the posterior inferior temporal cortex...
December 2014: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/25268096/association-of-scn1a-gene-polymorphisms-with-infantile-spasms-and-adrenocorticotropic-hormone-responsiveness
#11
Y Zhang, L-P Zou, Y-X Ding, B He, G Yang
OBJECTIVES: Infantile spasms (IS) are severe epileptic encephalopathy during infancy. The SCN1A encodes the α1 subunit of the neuronal voltage-gated sodium channels, and mutations in SCN1A have been frequently detected in idiopathic epilepsy and encephalopathy, which had similar symptoms as IS. Therefore, we investigated the association of SCN1A polymorphism with the IS and the responsiveness to adrenocorticotropic hormone (ACTH) treatment in the present study. PATIENTS AND METHODS: We totally collected 113 IS patients and and 122 age-matched healthy controls...
2014: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/24639375/mechanisms-of-epileptogenesis-in-pediatric-epileptic-syndromes-rasmussen-encephalitis-infantile-spasms-and-febrile-infection-related-epilepsy-syndrome-fires
#12
REVIEW
Carlos A Pardo, Rima Nabbout, Aristea S Galanopoulou
The mechanisms of epileptogenesis in pediatric epileptic syndromes are diverse, and may involve disturbances of neurodevelopmental trajectories, synaptic homeostasis, and cortical connectivity, which may occur during brain development, early infancy, or childhood. Although genetic or structural/metabolic factors are frequently associated with age-specific epileptic syndromes, such as infantile spasms and West syndrome, other syndromes may be determined by the effect of immunopathogenic mechanisms or energy-dependent processes in response to environmental challenges, such as infections or fever in normally-developed children during early or late childhood...
April 2014: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/24571117/therapeutic-approach-to-epileptic-encephalopathies
#13
REVIEW
Federico Vigevano, Alexis Arzimanoglou, Perrine Plouin, Nicola Specchio
Epileptic encephalopathies (EEs) are electroclinical entities with a peculiar course of disease; seizures and electroencephalographic (EEG) epileptiform abnormalities, ictal and interictal, contribute to progressive disturbance of cerebral functions. Frequently EEs are drug resistant, and consequences may be catastrophic. The main goal of treatment is to stop the peculiar course of epilepsy, operating on three parameters: seizure control, reduction of EEG abnormalities, and developmental outcome. For a correct therapeutic approach it is mandatory to have an as accurate as possible syndromic and etiologic diagnosis...
November 2013: Epilepsia
https://www.readbyqxmd.com/read/23774309/video-eeg-findings-in-a-kcnq2-epileptic-encephalopathy-a-case-report-and-revision-of-literature-data
#14
REVIEW
Domenico Serino, Nicola Specchio, Giuseppe Pontrelli, Federico Vigevano, Lucia Fusco
We describe the EEG findings of an infant with early-onset epileptic encephalopathy with mutation of the KCNQ2 gene and a family history of neonatal seizures. The infant presented with multifocal drug-resistant seizures with onset during the third day of life. Family history was positive for early-onset neonatal seizures. Metabolic screening and neuroimaging were negative. Direct sequencing of KCQN2 from both the mother and child revealed a heterozygous cytosine-to-guanine mutation (Dedek et al., 2003). Interictal EEG showed a very discontinuous pattern which evolved towards a defined burst-suppression pattern during sleep and a multifocal, random, attenuation pattern during wakefulness...
June 2013: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/22727657/cardiac-autonomic-dysfunction-in-west-syndrome
#15
Katrien Jansen, Steven Vandeput, Sabine Van Huffel, Lieven Lagae
BACKGROUND: West syndrome is an age-dependent epileptic encephalopathy. Autonomic changes are increasingly being recognized in patients with epilepsy: cardiac autonomic function is mediated by sympathetic and parasympathetic efferent activity to the heart and can provide information on the functional state of the autonomic nervous system. The goal of the study is to evaluate the effect of an early epileptic encephalopathy on the autonomic nervous system by measuring heart rate variability...
December 2012: Epilepsy Research
https://www.readbyqxmd.com/read/22264704/historic-clinical-and-prognostic-features-of-epileptic-encephalopathies-caused-by-cdkl5-mutations
#16
Brian D Moseley, Radhika Dhamija, Elaine C Wirrell, Katherine C Nickels
Mutations within the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene are important causes of early-onset epileptic encephalopathies. We sought to determine the historic, clinical, and prognostic features of epilepsy secondary to CDKL5 mutations. We performed retrospective chart reviews of children at our institution with epilepsy and CDKL5 mutations. Six children were identified. One manifested a deletion in exons 10-15 of the CDKL5 gene, another manifested a single base-pair duplication in exon 3, and the rest manifested base-pair exchanges...
February 2012: Pediatric Neurology
https://www.readbyqxmd.com/read/21397166/peho-syndrome-a-study-of-five-argentinian-patients
#17
Roberto Horacio Caraballo, Adriana Norma Pozo, María Gomez, Marcos Semprino
We describe two familial and three nonfamilial cases from Argentina, examined between February 1, 1990-July 31, 2008, who met the diagnostic criteria of progressive encephalopathy, peripheral edema, hypsarrhythmia, and optic atrophy syndrome. All five children were products of normal gestation, although one was premature. Birth was uneventful in all patients. Two patients were twin brothers. During their first neurologic examination, between ages 2-6 months, patients presented with facial dysmorphia, poor visual contact, and generalized hypotonia with poor head control...
April 2011: Pediatric Neurology
https://www.readbyqxmd.com/read/19589458/factors-influencing-the-evolution-of-west-syndrome-to-lennox-gastaut-syndrome
#18
Su Jeong You, Heung Dong Kim, Hoon-Chul Kang
This study examines factors influencing the evolution of West syndrome to Lennox-Gastaut syndrome. The study population comprised 98 patients diagnosed with West syndrome and monitored for at least 3 years. During follow-up, West syndrome evolved to Lennox-Gastaut syndrome in 48 of the 98 patients. Etiology analysis indicated that West syndrome was cryptogenic in 36 patients (36.7%) and symptomatic in 62 (63.3%). West syndrome was managed with antiepileptic drugs in 31 patients, ketogenic diets in 33 patients, hormonal therapy with prednisolone in 45 patients and with adrenocorticotropic hormone in 15 patients, epileptic surgery in 3 patients, and either no treatment or only herbal medication in 4 patients...
August 2009: Pediatric Neurology
https://www.readbyqxmd.com/read/17875384/can-fever-treat-epileptic-encephalopathies
#19
Maria Pintaudi, Monika M Eisermann, Dorothée Ville, Perrine Plouin, Olivier Dulac, Anna Kaminska
PURPOSE: To describe resistant epileptic encephalopathies that significantly improved after an acute febrile episode (FE). METHODS: We reviewed the clinical history of patients with daily pharmacoresistant seizures referred to the Saint-Vincent de Paul Hospital in the last 5 years. Four patients experienced seizure arrest in relation with a febrile episode. RESULTS: The four patients suffered from epileptic encephalopathy. Three were symptomatic, one cryptogenic...
October 2007: Epilepsy Research
https://www.readbyqxmd.com/read/17598646/-infantile-encephalopathy-associated-with-the-melas-a3243g-mutation-case-report
#20
José Guevara-Campos, Lucía Gonzalez-Guevara, Yulimar Parada, José Urbáez-Cano
Mitochondrial encephalopathies are a group of diseases that have as their pathogenic basis an alteration of the mitochondrial DNA (mtDNA). The MELAS phenotype (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) has been related to mutation A3243G in approximately 80% of the cases reported. MERRF (epilepsy myoclonus with ragged red fibers) has been related to mutation A8344G and A8566G of tRNA Lys. We report the case of a 7 months-old female with early clinical signs of encephalopathy associated to the A3243G mutation...
June 2007: Investigación Clínica
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