keyword
MENU ▼
Read by QxMD icon Read
search

epilepsy encephalopathy acth

keyword
https://www.readbyqxmd.com/read/28687180/a-patient-with-early-myoclonic-encephalopathy-eme-with-a-de-novo-kcnq2-mutation
#1
Karin Kojima, Kentaro Shirai, Mizuki Kobayashi, Akihiko Miyauchi, Hirotomo Saitsu, Naomichi Matsumoto, Hitoshi Osaka, Takanori Yamagata
BACKGROUND: The potassium voltage-gated channel subfamily Q member 2 (KCNQ2) gene has been reported to be associated with various types of epilepsy, including benign familial neonatal seizure (BFNS), early infantile epileptic encephalopathy (EIEE), and unclassified early onset encephalopathies. We herein report a patient with early myoclonic encephalopathy (EME) caused by a KCNQ2 mutation. CASE REPORT: A male infant started to exhibit erratic myoclonus several days after birth and apnea attacks lasting for seconds with desaturation...
July 4, 2017: Brain & Development
https://www.readbyqxmd.com/read/28524224/-epileptic-encephalopathies-in-infancy-how-do-we-treat-them-does-the-aetiology-influence-the-response-to-treatment
#2
S Roldan
INTRODUCTION: Resistance to treatments is a common feature of Ohtahara, Aicardi, West and Dravet syndromes, as well as malignant migrating epilepsy in infancy. AIMS: To update the therapeutic management and to analyse whether the aetiology somehow determines the treatment. DEVELOPMENT: Convulsive seizures in the first year of life may be due to a potentially treatable aetiology, which makes it essential to carry out a complete evaluation so as to be able to begin, as early as possible, the most suitable and the non-specific symptomatic treatments to control the seizures, which prevents or minimises their deleterious effects...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28427564/inflammation-in-epileptic-encephalopathies
#3
Oleksii Shandra, Solomon L Moshé, Aristea S Galanopoulou
West syndrome (WS) is an infantile epileptic encephalopathy that manifests with infantile spasms (IS), hypsarrhythmia (in ~60% of infants), and poor neurodevelopmental outcomes. The etiologies of WS can be structural-metabolic pathologies (~60%), genetic (12%-15%), or of unknown origin. The current treatment options include hormonal treatment (adrenocorticotropic hormone and high-dose steroids) and the GABA aminotransferase inhibitor vigabatrin, while ketogenic diet can be given as add-on treatment in refractory IS...
2017: Advances in Protein Chemistry and Structural Biology
https://www.readbyqxmd.com/read/28316319/epileptic-spasms-in-paediatric-post-traumatic-epilepsy-at-a-tertiary-referral-centre
#4
Jun T Park, Harry T Chugani
To recognize epileptic spasms (ES) as a seizure type after traumatic brain injury (TBI), accidental or non-accidental, in infants and children. In the process, we aim to gain some insight into the mechanisms of epileptogenesis in ES. A retrospective electronic chart review was performed at the Children's Hospital of Michigan from 2002 to 2012. Electronic charts of 321 patients were reviewed for evidence of post-traumatic epilepsy. Various clinical variables were collected including age at TBI, mechanism of trauma, severity of brain injury, electroencephalography/neuroimaging data, and seizure semiology...
March 1, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28140735/risk-factors-affecting-prognosis-in-infantile-spasm
#5
Gulen Gul Mert, Mihriban Ozlem Herguner, Faruk Incecik, Sakir Altunbasak, Duygu Sahan, Ilker Unal
AIM: To assess risk factors that affect epilepsy prognosis and neurodevelopmental outcome and response to treatment in patients diagnosed with infantile spasm. METHODS: In this study, demographics, treatment modalities, etiologies, risk factors affecting neurodevelopmental outcome and epilepsy prognosis were assessed retrospectively at the end of a minimum 24-months follow-up of 104 patients diagnosed with infantile spasm from May 2012 to October 2015. RESULTS: Neonatal seizure during neonatal period, abnormal head circumference, young age at the time of presentation and early gestational age, symptomatic etiology, abnormal initial examination and abnormal development test at the time of diagnosis, consanguinity, the medical center where treatment was started in the second center or beyond and magnetic resonance imaging finding were found to be statistically significant for poor prognosis in terms of neurodevelopment (p < 0...
March 29, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28005049/-hormonal-treatment-in-west-syndrome
#6
E D Belousova, I V Shulyakova, T G Okhapkina
West syndrome is one of the most well-known epileptic encephalopathies, a catastrophic epilepsy syndrome with onset in the first year of life. Prognosis of this condition depends on the etiology and adequate treatment. The authors review the hormonal treatment of West syndrome. Adrenocorticotrophic hormone (ACTH) is used in USA and its synthetic analogue tetracosactide is used in Europe. Both of the drugs are not registered in the Russian Federation. The data on the efficacy of corticosteroids, including prednisolone, are contradictory...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27806796/-dynamin-1-related-infantile-spasms-a-case-report-and-review-of-literature
#7
REVIEW
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
#8
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...
March 2017: Brain & Development
https://www.readbyqxmd.com/read/27615012/response-to-second-treatment-after-initial-failed-treatment-in-a-multicenter-prospective-infantile-spasms-cohort
#9
MULTICENTER STUDY
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
keyword
keyword
102384
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"