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Doose syndrome

Sotaro Kanai, Tohru Okanishi, Mitsuyo Nishimura, Kentaro Iijima, Takuya Yokota, Tomohiro Yamazoe, Ayataka Fujimoto, Hideo Enoki, Takamichi Yamamoto
Doose syndrome (epilepsy with myoclonic-atonic seizures) is an epilepsy syndrome with an incidence of approximately 1-2% of childhood-onset epilepsies. Although this syndrome is associated with multiple types of generalized seizures, the diagnosis is based on the presence of myoclonic-atonic seizures. Eighteen percent of patients have refractory seizures and intellectual disabilities. There have, however, been a few reports on the efficacy of surgical treatment for Doose syndrome. We describe a case of Doose syndrome in a 10-year-old boy...
June 30, 2017: Brain & Development
Ricardo Zavala-Yoe, Ricardo A Ramirez-Mendoza
Epileptic encephalopathies (EE) is a term coined by the International League Against Epilepsy (ILAE) to refer to a group of epilepsies in which the ictal and interictal abnormalities may contribute to progressive cerebral dysfunction. Among them, two affect mainly children and are very difficult to deal with, Doose and Lennox-Gastaut syndromes, (DS and LGS, respectively). So far (Zavala-Yoe et al., J Integr Neurosci 15(2):205-223, 2015a and works of ours there), quantitative analysis of single case studies of EE have been performed...
June 9, 2017: Metabolic Brain Disease
Carlos G Aguirre-Velázquez
Structured online surveys were used to explore the experiences of the parents of children with refractory epilepsy using medicinal cannabis in Mexico during September 2016. The surveys, which were completed in full, were reviewed, and 53 cases of children aged between 9 months and 18 years were identified. Of these, 43 cases (82%) were from Mexico and 10 (18%) were from Latin American countries. Of the 43 Mexican cases, the diagnoses were as follows: 20 cases (47%) had Lennox-Gastaut syndrome (LGS); 13 cases (30%) had unspecified refractory epilepsy (URE); 8 cases (19%) had West syndrome (WS); 1 case (2%) had Doose syndrome (DS); and 1 case (2%) had Ohtahara syndrome (OS)...
2017: Neurology Research International
Adelheid Wiemer-Kruel, Edda Haberlandt, Hans Hartmann, Gabriele Wohlrab, Thomas Bast
OBJECTIVE: Children with myoclonic astatic epilepsy (MAE; Doose syndrome) whose seizures do not respond immediately to standard antiepileptic drugs (AEDs) are at high risk of developing an epileptic encephalopathy with cognitive decline. A classic ketogenic diet (KD) is a highly effective alternative to AEDs. To date, there are only limited data on the effectiveness of the modified Atkins diet (MAD), which is less restrictive and more compatible with daily life. We report findings from a retrospective study on 30 MAE patients treated with MAD...
April 2017: Epilepsia
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...
December 2016: Seizure: the Journal of the British Epilepsy Association
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...
November 2016: Pediatric Neurology
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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