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Doose syndrome

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https://www.readbyqxmd.com/read/27866088/is-ketogenic-diet-treatment-hepatotoxic-for-children-with-intractable-epilepsy
#1
Nur Arslan, Orkide Guzel, Engin Kose, Unsal Yılmaz, Pınar Kuyum, Betül Aksoy, Tansel Çalık
PURPOSE: Long-term ketogenic diet (KD) treatment has been shown to induce liver steatosis and gallstone formation in some in vivo and clinical studies. The aim of this retrospective study was to evaluate the hepatic side effects of KD in epileptic children. METHOD: A total of 141 patients (mean age: 7.1±4.1years [2-18 years], 45.4% girls), receiving KD at least one year for intractable epilepsy due to different diagnoses (congenital brain defects, GLUT-1 deficiency, West syndrome, tuberous sclerosis, hypoxic brain injury, etc...
November 13, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27600546/slc6a1-mutation-and-ketogenic-diet-in-epilepsy-with-myoclonic-atonic-seizures
#2
Samantha Palmer, Meghan C Towne, Phillip L Pearl, Renee C Pelletier, Casie A Genetti, Jiahai Shi, Alan H Beggs, Pankaj B Agrawal, Catherine A Brownstein
BACKGROUND: Epilepsy with myoclonic-atonic seizures, also known as myoclonic-astatic epilepsy or Doose syndrome, has been recently linked to variants in the SLC6A1 gene. Epilepsy with myoclonic-atonic seizures is often refractory to antiepileptic drugs, and the ketogenic diet is known for treating medically intractable seizures, although the mechanism of action is largely unknown. We report a novel SLC6A1 variant in a patient with epilepsy with myoclonic-atonic seizures, analyze its effects, and suggest a mechanism of action for the ketogenic diet...
July 28, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27506632/epileptic-spasms-in-epilepsy-with-myoclonic-atonic-seizures-doose-syndrome
#3
Francesca Pittau, Christian M Korff, Douglas R Nordli
AIM: To describe the occurrence of epileptic spasms in epilepsy with myoclonic-atonic seizures (EMAS) or Doose syndrome. METHODS: Case descriptions of patients with EMAS and epileptic spasms. Diagnosis of EMAS was performed according to the following criteria: (1) onset of myoclonic, myoclonic-atonic, or atonic seizures at between 7 months and 6 years of age; (2) normal development before onset of epilepsy; (3) absence of structural cerebral abnormalities on MRI; (4) presence of generalized spike-waves or polyspike-waves on EEG; and (5) exclusion of other myoclonic epilepsies...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27345028/entropy-measures-to-study-and-model-long-term-simultaneous-evolution-of-children-in-doose-and-lennox-gastaut-syndromes
#4
Ricardo Zavala-Yoe, Ricardo A Ramirez-Mendoza, Luz M Cordero
Doose and Lennox-Gastaut (syndromes) are rare generalized electroclinical affections of early infancy of variable prognosis which manifest with very diverse kinds of seizures. Very frequently, these types of epilepsy become drug resistant and finding reliable treatment results is very difficult. As a result of this, fighting against these syndromes becomes a long term (or endless) event for the little patient, the neurologist and the parents. A lot of Electroencephalographic (EEG) records are so accumulated during the child's life in order to monitor evolution and correlate it with medications...
June 2016: Journal of Integrative Neuroscience
https://www.readbyqxmd.com/read/26979444/tonic-seizure-status-epilepticus-triggered-by-valproate-in-a-child-with-doose-syndrome
#5
Alberto Grande-Martín, José Manuel Pardal-Fernández, María Carmen Carrascosa-Romero, Carlos De Cabo
Antiepileptic drugs may occasionally increase seizure frequency or eliciting de novo seizure occurrence; the underlying mechanism of these effects is not known. The potential adverse effects of valproic acid in myoclonic astatic epilepsy have been noted by experienced clinicians in various different regions of the world, but this important observation has not been sufficiently reported. We present the case of tonic status epilepticus in an 8-year-old boy with Doose syndrome related to valproic acid. Valproic acid, such as others antiepileptic drugs, is liable to produce paradoxical effects such as the atypical seizures we report...
June 2016: Neuropediatrics
https://www.readbyqxmd.com/read/26958468/epilepsy-with-myoclonic-atonic-seizures-doose-syndrome-when-video-eeg-polygraphy-holds-the-key-to-syndrome-diagnosis
#6
Pinelopi Dragoumi, Fiona Chivers, Megan Brady, Sheila Craft, David Mushati, Gopalakrishnan Venkatachalam, Judith Helen Cross, Krishna B Das
An electroclinical epilepsy syndrome diagnosis enables physicians to predict outcomes as well as select appropriate treatment options. We report a child who presented with reflex myoclonus at the age of 9 months and was initially diagnosed with myoclonic epilepsy in infancy. After 9 years of medically resistant myoclonic seizures, extensive investigations, and emerging learning difficulties, she was referred for video-telemetry to characterize her seizures in an attempt to make a syndromic diagnosis. A three-day video-telemetry assessment was performed to document seizures...
2016: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/26582558/human-autoantibodies-to-amphiphysin-induce-defective-presynaptic-vesicle-dynamics-and-composition
#7
Christian Werner, Martin Pauli, Sören Doose, Andreas Weishaupt, Holger Haselmann, Benedikt Grünewald, Markus Sauer, Manfred Heckmann, Klaus V Toyka, Esther Asan, Claudia Sommer, Christian Geis
Stiff-person syndrome is the prototype of a central nervous system disorder with autoantibodies targeting presynaptic antigens. Patients with paraneoplastic stiff-person syndrome may harbour autoantibodies to the BAR (Bin/Amphiphysin/Rvs) domain protein amphiphysin, which target its SH3 domain. These patients have neurophysiological signs of compromised central inhibition and respond to symptomatic treatment with medication enhancing GABAergic transmission. High frequency neurotransmission as observed in tonic GABAergic interneurons relies on fast exocytosis of neurotransmitters based on compensatory endocytosis...
February 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/26312202/novel-way-to-investigate-evolution-of-children-refractory-epilepsy-by-complexity-metrics-in-massive-information
#8
Ricardo Zavala-Yoé, Ricardo Ramírez-Mendoza, Luz M Cordero
Epilepsy demands a major burden at global levels. Worldwide, about 1% of people suffer epilepsy and 30% of them (0.3%) are anticonvulsants resistant. Among them, some children epilepsies are peculiarly difficult to deal with as Doose syndrome (DS). Doose syndrome is a very complicated type of children cryptogenic refractory epilepsy (CCRE) which is traditionally studied by analysis of complex electrencephalograms (EEG) by neurologists. CCRE are affections which evolve in a course of many years and customarily, questions such as on which year was the kid healthiest (less seizures) and on which region of the brain (channel) the affection has been progressing more negatively are very difficult or even impossible to answer as a result of the quantity of EEG recorded through the patient's life...
2015: SpringerPlus
https://www.readbyqxmd.com/read/26133327/three-siblings-with-multiform-seizures-an-unusual-presentation-of-doose-syndrome
#9
Sachin Suresh Babu, Chindripu Sudhir Peter, Sobhana Mogadati, Phebe Miriam Joseph, Nishant Reddy, Priya Gupta
Doose syndrome, or epilepsy with myoclonic-atonic seizures, is a rare electroclinical syndrome. It is important to distinguish it from related epilepsy syndromes such as Lennox Gestaut syndrome and Dravet syndrome. We report the occurrence of this disorder in three siblings born of a non-consanguineous marriage.
November 2014: National Medical Journal of India
https://www.readbyqxmd.com/read/25845492/parental-reporting-of-response-to-oral-cannabis-extracts-for-treatment-of-refractory-epilepsy
#10
Craig A Press, Kelly G Knupp, Kevin E Chapman
OBJECTIVE: Oral cannabis extracts (OCEs) have been used in the treatment of epilepsy; however, no studies demonstrate clear efficacy. We report on a cohort of pediatric patients with epilepsy who were given OCE and followed in a single tertiary epilepsy center. METHODS: A retrospective chart review of children and adolescents who were given OCE for treatment of their epilepsy was performed. RESULTS: Seventy-five patients were identified of which 57% reported any improvement in seizure control and 33% reported a >50% reduction in seizures (responders)...
April 2015: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/25143482/how-do-you-keto-survey-of-north-american-pediatric-ketogenic-diet-centers
#11
MULTICENTER STUDY
Da Eun Jung, Sucheta M Joshi, Anne T Berg
We surveyed ketogenic diet centers in North America about their practices surrounding the ketogenic diet. An internet survey was disseminated via REDCap(©) to North American ketogenic diet centers identified from the Charlie Foundation and Ketocal(©) websites. Fifty-six centers responded. In addition to physicians, nurses and dieticians, ketogenic teams included social workers (39%), feeding specialists (14%), educational liaisons (4%), psychologists (5%), and pharmacists (36%). A child attending school (2%), non-English speaking family (19%), single-parent family (0%), and oral feeding (6%) were rarely considered barriers...
June 2015: Journal of Child Neurology
https://www.readbyqxmd.com/read/24696509/eeg-fmri-in-myoclonic-astatic-epilepsy-doose-syndrome
#12
Friederike Moeller, Kristina Groening, Jan Moehring, Hiltrud Muhle, Stephan Wolff, Olav Jansen, Ulrich Stephani, Michael Siniatchkin
OBJECTIVE: To identify neuronal networks underlying generalized spike and wave discharges (GSW) in myoclonic astatic epilepsy (MAE). METHODS: Simultaneous EEG-fMRI recordings were performed in 13 children with MAE. Individual GSW-associated blood oxygenation level-dependent (BOLD) signal changes were analyzed in every patient. A group analysis was performed to determine common syndrome-specific hemodynamic changes across all patients. RESULTS: GSW were recorded in 11 patients, all showing GSW-associated BOLD signal changes...
April 29, 2014: Neurology
https://www.readbyqxmd.com/read/24237632/report-of-a-parent-survey-of-cannabidiol-enriched-cannabis-use-in-pediatric-treatment-resistant-epilepsy
#13
Brenda E Porter, Catherine Jacobson
Severe childhood epilepsies are characterized by frequent seizures, neurodevelopmental delays, and impaired quality of life. In these treatment-resistant epilepsies, families often seek alternative treatments. This survey explored the use of cannabidiol-enriched cannabis in children with treatment-resistant epilepsy. The survey was presented to parents belonging to a Facebook group dedicated to sharing information about the use of cannabidiol-enriched cannabis to treat their child's seizures. Nineteen responses met the following inclusion criteria for the study: a diagnosis of epilepsy and current use of cannabidiol-enriched cannabis...
December 2013: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/23941843/-influence-of-ketogenic-diet-on-the-clinical-effects-and-electroencephalogram-features-in-31-children-with-pharmacoresistant-epileptic-encephalopathy
#14
Bao-Min Li, Li-Li Tong, Gui-Juan Jia, Ji-Wen Wang, Ge-Fei Lei, Ping Yin, Ruo-Peng Sun
OBJECTIVE: To investigate the effect of ketogenic diet (KD) on the clinical and electroencephalogram features in children with pharmacoresistant epileptic encephalopathy. METHOD: Thirty-one children (19 boys, 12 girls) aged 7 months to 7 years (mean 2 years 5 month) with epilepsy refractory to conventional antiepileptic drugs (AEDs) were included in this study. In addition to their original AED treatment, the children were assigned to different ketogenic diets based on their age...
May 2013: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/23515149/ketogenic-diet-an-early-option-for-epilepsy-treatment-instead-of-a-last-choice-only
#15
REVIEW
Huei-Shyong Wang, Kuang-Lin Lin
Ketogenic diet (KD) was usually tried as a last resort in the treatment of intractable epilepsy after failure of many antiepileptics and even epilepsy surgery. Glucose transporter-1 deficiency and pyruvate dehydrogenase deficiency must be treated with KD as the first choice because of inborn errors of glucose metabolism. Infantile spasms, tuberous sclerosis complex, Rett syndrome, Doose syndrome, Dravet syndrome, etc., appear to respond to KD, and it has been suggested by the international consensus statement to use KD early...
January 2013: Biomedical Journal
https://www.readbyqxmd.com/read/23404539/effects-of-ketogenic-diet-on-the-clinical-and-electroencephalographic-features-of-children-with-drug-therapy-resistant-epilepsy
#16
Baomin Li, Lili Tong, Guijuan Jia, Ruopeng Sun
The aim of this study was to investigate the effects of a ketogenic diet (KD) on the clinical and electroencephalographic (EEG) features of children with drug therapy-resistant epilepsy. A total of 31 children with drug therapy-resistant epilepsy were selected, including 19 males and 12 females. The youngest was 7 months old and the oldest was 7 years old. Clinical seizures in the children prior to and 1 week, 1 month and 3 months after the initiation of the KD were compared and the clinical effect of the KD was evaluated...
February 2013: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/23397290/treatment-of-epileptic-encephalopathies
#17
REVIEW
Amy McTague, J Helen Cross
Epileptic encephalopathy is defined as a condition where the epileptic activity itself may contribute to the severe neurological and cognitive impairment seen, over and above that which would be expected from the underlying pathology alone. The epilepsy syndromes at high risk of this are a disparate group of conditions characterized by epileptic seizures that are difficult to treat and developmental delay. In this review, we discuss the ongoing debate regarding the significance of inter-ictal discharges and the impact of the seizures themselves on the cognitive delay or regression that is a common feature of these syndromes...
March 2013: CNS Drugs
https://www.readbyqxmd.com/read/23159713/myoclonic-astatic-epilepsy-doose-syndrome-a-lamotrigine-responsive-epilepsy
#18
Corinna Doege, Theodor W May, Michael Siniatchkin, Sarah von Spiczak, Ulrich Stephani, Rainer Boor
PURPOSE: Myoclonic astatic epilepsy (MAE, Doose syndrome) is a difficult to treat idiopathic generalized epilepsy of early childhood. MAE frequently shows the course of an epileptic encephalopathy and may result in permanent cognitive impairment. Systematic analyses on clinical effects of different AED combinations are still needed. The purpose of our study was to analyze the therapeutic effect of adjunctive lamotrigine (LTG) in pharmacoresistant MAE patients. PATIENTS AND METHODS: In an exploratory, retrospective study, 10 pharmacoresistant MAE patients were included who had been admitted to the Northern German Epilepsy Center between 07/2007 and 12/2010 and had been treated with LTG...
January 2013: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/22780699/dissecting-the-genetic-basis-of-myoclonic-astatic-epilepsy
#19
REVIEW
Shan Tang, Deb K Pal
Herman Doose first described the generalized childhood epilepsy syndrome of myoclonic astatic epilepsy (MAE) in 1970, attributing a genetic cause from this first description. However, although the International League Against Epilepsy (ILAE) defined criteria for MAE in 1989, the diagnostic boundaries of the syndrome continue to be debated. Moreover, 40 years since Doose's first description of MAE, although a genetic predisposition is acknowledged and many studies have demonstrated familial aggregation of seizures within MAE families, the actual genetic determinants of MAE still remain unknown...
August 2012: Epilepsia
https://www.readbyqxmd.com/read/22322415/ketogenic-diets-new-advances-for-metabolism-based-therapies
#20
REVIEW
Eric H Kossoff, Adam L Hartman
PURPOSE OF REVIEW: Despite myriad anticonvulsants available and in various stages of development, there are thousands of children and adults with epilepsy worldwide still refractory to treatment and not candidates for epilepsy surgery. Many of these patients will now turn to dietary therapies such as the ketogenic diet, medium-chain triglyceride diet, modified Atkins diet, and low glycemic index treatment. RECENT FINDINGS: In the past several years, neurologists are finding new indications to use these dietary treatments, perhaps even as first-line therapy, including infantile spasms, myoclonic-astatic epilepsy (Doose syndrome), Dravet syndrome, and status epilepticus (including FIRES syndrome)...
April 2012: Current Opinion in Neurology
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