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https://www.readbyqxmd.com/read/27781560/precision-medicine-in-genetic-epilepsies-break-of-dawn
#1
Philipp Sebastian Reif, Meng-Han Tsai, Ingo Helbig, Felix Rosenow, Karl Martin Klein
Therapy with current antiepileptic drugs aims at reducing the likelihood of seizure occurrence rather than influencing the underlying disease process. Therefore, antiepileptic drugs have an anticonvulsant rather than antiepileptic property. Areas covered: The increasing identification of genetic causes for epilepsy over the recent years improves the understanding of the underlying epileptogenic process and allows for the possibility of directed therapeutic approaches. An ideal antiepileptic therapy consists of a drug which is able to influence the functional changes caused by a specific pathogenic variant...
November 10, 2016: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/27725288/a-23-years-follow-up-study-identifies-glut1-deficiency-syndrome-initially-diagnosed-as-complicated-hereditary-spastic-paraplegia
#2
Marina Diomedi, Ziv Gan-Or, Fabio Placidi, Patrick A Dion, Anna Szuto, Mario Bengala, Guy A Rouleau, Gian Luigi Gigli
Glucose transporter 1 (GLUT1) deficiency syndrome (GLUT1DS) was initially described in the early 90s as a sporadic clinical condition, characterized by seizures, motor and intellectual impairment with variable clinical presentation, and without a known genetic cause. Although causative mutations in SLC2A1 were later identified and much more is known about the disease, it still remains largely underdiagnosed. In the current study, a previously described Italian family was re-analyzed using whole exome sequencing and clinically re-evaluated...
October 7, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27448186/cognitive-and-neurodevelopmental-comorbidities-in-paediatric-epilepsy
#3
REVIEW
Katherine C Nickels, Michael J Zaccariello, Lorie D Hamiwka, Elaine C Wirrell
Cognitive and behavioural comorbidities are often seen in children with epilepsy, and are more common and severe in refractory epilepsy. These comorbidities are associated with worse quality of life, increased behavioural and language problems and worse social skills, all of which adversely affect long-term psychosocial functioning. To enable early intervention and therapy, children and teens with epilepsy should be periodically screened for cognitive comorbidities. The location of the epileptic focus can, to a certain degree, predict the type(s) of comorbidity; however, the spectrum of disability is often broad, presumably because focal perturbations can cause network dysfunction...
August 2016: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/27273526/use-of-modified-atkins-diet-in-glucose-transporter-type-1-deficiency-syndrome
#4
Sofiane Amalou, Domitille Gras, Adina Ilea, Marie-Odile Greneche, Laurent Francois, Vanina Bellavoine, Catherine Delanoe, Stéphane Auvin
AIM: Glucose transporter type 1 deficiency syndrome (GLUT1-DS) results from impaired glucose transport into the brain, and is treated with a ketogenic diet. A few reports have suggested effectiveness of treatment using the modified Atkins diet (MAD). We aimed to assess the efficacy of MAD as a treatment for GLUT1-DS. METHOD: We evaluated the efficacy of MAD in 10 patients (four males, six females; mean age at diagnosis [SD] 6.2y [1.7], min-max: 4mo-12y) with GLUT1-DS...
June 8, 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/26982753/glucose-transporter-type-1-deficiency-due-to-slc2a1-gene-mutations-a-rare-but-treatable-cause-of-metabolic-epilepsy-and-extrapyramidal-movement-disorder-own-experience-and-literature-review
#5
REVIEW
Elżbieta Szczepanik, Iwona Terczyńska, Małgorzata Kruk, Agata Lipiec, Ewa Dudko, Jolanta Tryfon, Marta Jurek, Dorota Hoffman-Zacharska
THE AIM: To present the molecular and clinical characteristics of three children with glucose deficiency syndrome, an inborn rare metabolic disease, caused by mutations in the SLC2A1 gene. MATERIAL AND METHODS: The investigation was carried out in three children: two girls and one boy showing symptoms of GLUT1 deficiency syndrome (GLUT1-DS). They were referred for SLC2A1 gene analysis. RESULTS: The presence of mutations in all of them was confirmed...
October 2015: Developmental Period Medicine
https://www.readbyqxmd.com/read/26923720/outcome-of-ketogenic-diets-in-glut1-deficiency-syndrome-in-japan-a-nationwide-survey
#6
Tatsuya Fujii, Yasushi Ito, Satoru Takahashi, Kuriko Shimono, Jun Natsume, Keiko Yanagihara, Hirokazu Oguni
OBJECTIVES: To evaluate the outcome of ketogenic diets (KDs) in patients with glucose transport type 1 deficiency syndrome (GLUT1DS) in Japan. METHODS: A nationwide survey for GLUT1DS was conducted by sending questionnaires to board-certified pediatric neurologists nationwide to obtain clinical and laboratory data. RESULTS: Among 39 patients whose diagnosis was confirmed molecularly or by the 3-O-methylglucose uptake assay, 31 were treated with KDs for longer than 1month...
August 2016: Brain & Development
https://www.readbyqxmd.com/read/26902182/severe-hypertriglyceridemia-in-glut1d-on-ketogenic-diet
#7
Joerg Klepper, Baerbel Leiendecker, Nicole Heussinger, Ekkehart Lausch, Friedrich Bosch
High-fat ketogenic diets are the only treatment available for Glut1 deficiency (Glut1D). Here, we describe an 8-year-old girl with classical Glut1D responsive to a 3:1 ketogenic diet and ethosuximide. After 3 years on the diet a gradual increase of blood lipids was followed by rapid, severe asymptomatic hypertriglyceridemia (1,910 mg/dL). Serum lipid apheresis was required to determine liver, renal, and pancreatic function. A combination of medium chain triglyceride-oil and a reduction of the ketogenic diet to 1:1 ratio normalized triglyceride levels within days but triggered severe myoclonic seizures requiring comedication with sultiam...
April 2016: Neuropediatrics
https://www.readbyqxmd.com/read/26811264/diagnosing-glucose-transporter-1-deficiency-at-initial-presentation-facilitates-early-treatment
#8
Cigdem Inan Akman, Julia Yu, Aliza Alter, Kristin Engelstad, Darryl C De Vivo
OBJECTIVE: To profile the initial clinical events of glucose transporter 1 deficiency syndrome (Glut1 DS) in order to facilitate the earliest possible diagnosis. STUDY DESIGN: We retrospectively reviewed 133 patients with Glut1 DS from a single institution. Family interviews and medical record reviews identified the first clinical event(s) reported by the caregivers. RESULTS: Average age of the first event was 8.15 ± 11.9 months (range: 0...
April 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/26803281/use-of-dietary-therapies-amongst-patients-with-glut1-deficiency-syndrome
#9
Hannah R Kass, S Parrish Winesett, Stacey K Bessone, Zahava Turner, Eric H Kossoff
PURPOSE: GLUT-1 deficiency syndrome (GLUT1DS) is a neurologic disorder manifesting as epilepsy, abnormal movements, and cognitive delay. The currently accepted treatment of choice is the classic 4:1 ratio ketogenic diet. METHODS: A 2-page survey was distributed to all attendees of a family-centered conference for GLUT1DS in July 2015. The surveys were completed by parents, collected anonymously, and information analyzed in a database. RESULTS: Surveys were received from 92 families, of which 90 (98%) had been treated with dietary therapies...
February 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/26356281/-experience-of-using-ketogenic-diet-in-a-patient-with-glucose-transporter-1-deficiency-syndrome-a-case-report
#10
E G Lukyanova, S O Ayvazyan, K V Osipova, E A Pyreva, T N Sorvacheva
UNLABELLED: We present the experience of using the ketogenic diet (KD) in the treatment of pharmacoresistant epilepsy in a patient with glucose transporter deficiency syndrome type I (GLUT1). We observed a nine-year-old boy with refractory epilepsy with frequent multiple myoclonic seizures due to GLUT1. The high effectiveness of KD in the treatment of GLUT1 was demonstrated. By the 10th day from the beginning of KD, a complete relief of epileptic seizures and EEG abnormalities was achieved...
2015: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/26336901/glut1-deficiency-syndrome-absence-epilepsy-and-la-soupe-du-jour
#11
Anaïs Thouin, Douglas E Crompton
For some time, paediatric neurologists have recognised glucose transporter type 1 (GluT1) deficiency syndrome as a cause of intractable infantile seizures, microcephaly, developmental delay and hypoglycorrhachia in the presence of a normal plasma glucose. It is caused by mutations in the SLC2A1 gene, coding for GluT1, leading to a reduction in the available glucose transporter sites; it responds to the ketogenic diet. Recently, a wider spectrum of seizure syndromes have been associated with functional impairment of glucose transport caused by SLC2A1 mutations...
February 2016: Practical Neurology
https://www.readbyqxmd.com/read/26193382/from-splitting-glut1-deficiency-syndromes-to-overlapping-phenotypes
#12
Marie Hully, Sandrine Vuillaumier-Barrot, Christiane Le Bizec, Nathalie Boddaert, Anna Kaminska, Karine Lascelles, Pascale de Lonlay, Claude Cances, Vincent des Portes, Agathe Roubertie, Diane Doummar, Anne LeBihannic, Bertrand Degos, Anne de Saint Martin, Elisabeth Flori, Jean Michel Pedespan, Alice Goldenberg, Catherine Vanhulle, Soumeya Bekri, Anne Roubergue, Bénédicte Heron, Marie-Anne Cournelle, Alice Kuster, Alexis Chenouard, Marie-Noelle Loiseau, Vassili Valayannopoulos, Nicole Chemaly, Cyril Gitiaux, Nathalie Seta, Nadia Bahi-Buisson
INTRODUCTION: Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare genetic disorder due to mutations or deletions in SLC2A1, resulting in impaired glucose uptake through the blood brain barrier. The classic phenotype includes pharmacoresistant epilepsy, intellectual deficiency, microcephaly and complex movement disorders, with hypoglycorrhachia, but milder phenotypes have been described (carbohydrate-responsive phenotype, dystonia and ataxia without epilepsy, paroxysmal exertion-induced dystonia)...
September 2015: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/26109259/ketogenic-diets-in-patients-with-inherited-metabolic-disorders
#13
REVIEW
S Scholl-Bürgi, A Höller, K Pichler, M Michel, E Haberlandt, D Karall
Ketogenic diets (KDs) are diets that bring on a metabolic condition comparable to fasting, usually without catabolism. Since the mid-1990s such diets have been widely used in patients with seizures/epilepsies, mostly children. This review focuses on the use of KDs in patients with various inherited metabolic disorders (IMD). In glucose transporter type 1 deficiency syndrome (GLUT1-DS) and pyruvate dehydrogenase complex (PDHc) deficiency, KDs are deemed the therapy of choice and directly target the underlying metabolic disorder...
July 2015: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/26088884/do-glut1-glucose-transporter-type-1-defects-exist-in-epilepsy-patients-responding-to-a-ketogenic-diet
#14
Felicitas Becker, Julian Schubert, Sarah Weckhuysen, Arvid Suls, Steffen Grüninger, Elisabeth Korn-Merker, Anne Hofmann-Peters, Jürgen Sperner, Helen Cross, Kerstin Hallmann, Christian E Elger, Wolfram S Kunz, René Madeleyen, Holger Lerche, Yvonne G Weber
In the recent years, several neurological syndromes related to defects of the glucose transporter type 1 (Glut1) have been descried. They include the glucose transporter deficiency syndrome (Glut1-DS) as the most severe form, the paroxysmal exertion-induced dyskinesia (PED), a form of spastic paraparesis (CSE) as well as the childhood (CAE) and the early-onset absence epilepsy (EOAE). Glut1, encoded by the gene SLC2A1, is the most relevant glucose transporter in the brain. All Glut1 syndromes respond well to a ketogenic diet (KD) and most of the patients show a rapid seizure control...
August 2015: Epilepsy Research
https://www.readbyqxmd.com/read/25914049/favourable-response-to-ketogenic-dietary-therapies-undiagnosed-glucose-1-transporter-deficiency-syndrome-is-only-one-factor
#15
Natasha E Schoeler, Judith Helen Cross, Suzanne Drury, Nicholas Lench, Jacinta M McMahon, Mark T MacKay, Ingrid E Scheffer, Josemir W Sander, Sanjay M Sisodiya
AIM: We aimed to determine whether response to ketogenic dietary therapies (KDT) was due to undiagnosed glucose transporter type 1 deficiency syndrome (GLUT1-DS). METHOD: Targeted resequencing of the SLC2A1 gene was completed in individuals without previously known GLUT1-DS who received KDT for their epilepsy. Hospital records were used to obtain demographic and clinical data. Response to KDT at various follow-up points was defined as seizure reduction of at least 50%...
October 2015: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/25870456/clinical-reasoning-novel-glut1-ds-mutation-refractory-seizures-and-ataxia
#16
Sonali Sen, Karen Keough, James Gibson
Intractable epilepsy is a common diagnosis among child neurology practitioners with medical management remaining unsatisfactory in many cases. GLUT1 deficiency syndrome (GLUT1-DS) is a disorder that should be considered in such situations. Evaluation by comparing serum to CSF glucose levels is a fast and relatively easy test, with hypoglycorrhachia being highly suggestive of GLUT1-DS. Furthermore, treatment with the ketogenic diet is well-established and can result in significant improvement in quality of life for these patients...
April 14, 2015: Neurology
https://www.readbyqxmd.com/read/25804265/brain-derived-circulating-endothelial-cells-in-peripheral-blood-of-newborn-infants-with-seizures-a-potential-biomarker-for-cerebrovascular-injury
#17
Massroor Pourcyrous, Shyamali Basuroy, Dilyara Tcheranova, Kristopher L Arheart, Mohamad T Elabiad, Charles W Leffler, Helena Parfenova
Neonatal seizures have been associated with cerebrovascular endothelial injury and neurological disabilities. In a piglet model, the long-term loss of endothelial regulation of cerebral blood flow coincides with the surge of brain-derived circulating endothelial cells (BCECs) in blood. We hypothesized that BCECs could serve as a noninvasive biomarker of cerebrovascular injury in neonates with seizures. In a prospective pilot feasibility study, we enrolled newborn infants with confirmed diagnoses of perinatal asphyxia and intraventricular hemorrhage (IVH); both are commonly associated with seizures...
March 2015: Physiological Reports
https://www.readbyqxmd.com/read/25532859/when-should-clinicians-search-for-glut1-deficiency-syndrome-in-childhood-generalized-epilepsies
#18
Sébastien Lebon, Philippe Suarez, Semsa Alija, Christian M Korff, Joël Fluss, Danielle Mercati, Alexandre N Datta, Claudia Poloni, Jean-Pierre Marcoz, Ana Belinda Campos-Xavier, Luisa Bonafé, Eliane Roulet-Perez
UNLABELLED: GLUT1 deficiency (GLUT1D) has recently been identified as an important cause of generalized epilepsies in childhood. As it is a treatable condition, it is crucial to determine which patients should be investigated. METHODS: We analyzed SLC2A1 for mutations in a group of 93 unrelated children with generalized epilepsies. Fasting lumbar puncture was performed following the identification of a mutation. We compared our results with a systematic review of 7 publications of series of patients with generalized epilepsies screened for SLC2A1 mutations...
March 2015: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/25487684/nationwide-survey-of-glucose-transporter-1-deficiency-syndrome-glut-1ds-in-japan
#19
Yasushi Ito, Satoru Takahashi, Kuriko Kagitani-Shimono, Jun Natsume, Keiko Yanagihara, Tatsuya Fujii, Hirokazu Oguni
OBJECTIVES: We conducted a nationwide survey of glucose transporter type-1 deficiency syndrome (GLUT-1DS) in Japan in order to clarify its incidence as well as clinical and laboratory information. SUBJECTS AND METHODS: A questionnaire to survey the number of genetically and clinically confirmed cases of GLUT-1DS was sent to 1018 board-certified pediatric neurologists, which resulted in 57 patients being reported. We obtained the clinical and laboratory data of 33 patients through a secondary questionnaire...
September 2015: Brain & Development
https://www.readbyqxmd.com/read/25256448/a-cause-of-permanent-ketosis-glut-1-deficiency
#20
Alexis Chenouard, Sandrine Vuillaumier-Barrot, Nathalie Seta, Alice Kuster
GLUT-1-deficiency syndrome (GLUT1-DS; OMIM 606777) is a treatable metabolic disorder caused by a mutation of SLC2A1 gene. The functional deficiency of the GLUT1 protein leads to an impaired glucose transport into the brain, resulting in neurologic disorders.We report on a 6-month-old boy with preprandial malaises who was treated monthly by a sorcerer because of a permanent acetonemic odor. He subsequently developed pharmaco-resistant seizures with microcephaly and motor abnormalities. Metabolic explorations were unremarkable except for a fasting glucose test which revealed an abnormal increase of blood ketone bodies...
2015: JIMD Reports
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