GLUT1 deficiency syndrome – 2007 update

Klepper, Joerg; Leiendecker, B.

doi:10.1111/j.1469-8749.2007.00707.x

Cited by 226 publications

(254 citation statements)

References 92 publications

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“…Leurs difficultés semblent se stabiliser avec l'âge, certains d'entre eux pouvant fonctionner dans la société de façon autonome [2,14]. Ces examens peuvent être complétés par la mesure de la captation érythrocytaire du glucose, qui peut être particuliè-rement intéressante si les tests génétiques sont négatifs [14].…”

Section: Déficit En Glut-1 Chez L'adulteunclassified

“…On a pu montrer qu'un changement d'acide aminé identique pouvait être plus ou moins pathogène selon le type de mutation génétique en cause, mais une corrélation entre le génotype et un phéno-type spécifique n'a pas pu être clairement établie [11]. Une transmission autosomique dominante a été rapportée dans trois familles [2,14]. Plus récemment, une transmission autosomique récessive a également été démontrée dans une famille consanguine, ceci remettant en cause l'affirmation retenue jusqu'alors, selon laquelle les mutations homozygotes semblaient létales in utero [20].…”

Section: Génétiqueunclassified

“…Pronostic L'évolution des rares patients chez lesquels le diagnostic a été posé à l'âge adulte indique qu'une stabilisation spontanéedes symptômes au cours du temps est envisageable après la puberté [14]. Il est cependant incontestable que la plupart des patients atteints bénéficient de l'instauration précoce du régime cétogène, raison pour laquelle un diagnostic rapide de cette entité est nécessaire.…”

Section: Traitementunclassified

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Syndrome de déficit en transporteur du glucose de type 1

Seeck¹,

Korff²

2011

Swiss Arch Neurol Psychiatr

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SummaryGlucose-transporter type 1 deficiency Glucose-transporter type 1 deficiency syndrome is a treatable metabolic disorder, which clinical spectrum is rapidly expanding. The metabolic defect is a constantly low glucose concentration in the cerebrospinal fluid, due to an abnormal diffusion across the blood brain barrier. The classical type starts in infancy and associates refractory seizures, developmental delay, and progressive microcephaly. Recently, the phenotype has been extended to atypical idiopathic generalized epilepsies, and to movement disorders. A ketogenic diet allows a rapid and favorable evolution in most cases. This review aims at presenting the current knowledge about this disease, in order to increase its recognition and thereby allow early intervention.

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Section: Déficit En Glut-1 Chez L'adulteunclassified

Section: Génétiqueunclassified

Section: Traitementunclassified

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Syndrome de déficit en transporteur du glucose de type 1

Seeck¹,

Korff²

2011

Swiss Arch Neurol Psychiatr

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“…GLUT1 is a membranebound glycoprotein that is involved in glucose transport across blood-tissue barriers. In brain it exclusively facilitates the entry of D-glucose across the blood-brain barrier (37). This syndrome results in a lower glucose concentration in the cerebrospinal fluid and manifest itself with infantile seizures, microcephaly, and developmental delay (37), phenotypes that are also seen in DS.…”

Section: Quantitative Expression Differences In Mouse Ds Model and Humentioning

confidence: 99%

Quantitative Proteomics Characterization of a Mouse Embryonic Stem Cell Model of Down Syndrome

Wang

Mulligan

Denyer

et al. 2009

Molecular & Cellular Proteomics

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Down syndrome, caused by the trisomy of chromosome 21, is a complex condition characterized by a number of phenotypic features, including reduced neuron number and synaptic plasticity, early Alzheimer disease-like neurodegeneration, craniofacial dysmorphia, heart development defects, increased incidence of childhood leukemia, and powerful suppression of the incidence of most solid tumors. Mouse models replicate a number of these phenotypes. The Tc1 Down syndrome model was constructed by introducing a single supernumerary human chromosome 21 into a mouse embryonic stem cell, and it reproduces a large number of Down syndrome phenotypes including heart development defects. However, little is still known about the developmental onset of the trisomy 21-induced mechanisms behind these phenotypes or the proteins that are responsible for them. This study determined the proteomic differences that are present in undifferentiated embryonic stem cells and are caused by an additional human chromosome 21. A total of 1661 proteins were identified using two-dimensional liquid chromatography followed by tandem mass spectrometry from whole embryonic stem cell lysates. Using isobaric tags for relative and absolute quantification, we found 52 proteins that differed in expression by greater than two standard deviations from the mean when an extra human chromosome 21 was present. Of these, at least 11 have a possible functional association with a Down syndrome phenotype or a human chromosome 21-encoded gene. This study also showed that quantitative protein expression differences in embryonic stem cells can persist to adult mouse as well as reproduce in human Down syndrome fetal tissue. This indicates that changes that are determined in embryonic stem cells of Down syndrome could potentially identify proteins that are involved in phenotypes of Down syndrome, and it shows that these cell lines can be used for the purpose of studying these pathomechanisms. Molecular & Cellular Proteomics 8:585-595, 2009. Down syndrome (DS)1 is caused by trisomy of human chromosome 21 (HSA21) and has an incidence of 1 in 650 live births (1). Mental retardation, smaller brain size, reduced numbers of neurons, reduced dendritic spine density and plasticity, and early Alzheimer disease-like neurodegeneration are seen in all people with DS, and a plethora of other phenotypes have a variable expression (1, 2). These include phenotypes that are seen only in a subset of DS individuals, such as heart defects, duodenal stenosis, and childhood leukemia. Interestingly there is a lower incidence of most solid tumors in people with DS (3).Mouse models mimic some of the phenotypes seen in DS. TS65Dn, which contains ϳ50% of the genes homologous for HSA21 in three copies, exhibits craniofacial skeletal malformation (4) and reduced cerebellar volume and granular and Purkinje cell densities (5). TS65Dn also displays learning and behavioral deficits (6). Ts1Cje is trisomic for ϳ 2 ⁄3 of the triplicated genes in TS65Dn and displays generally a similar but less severe phenot...

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“…Em relação à seleção dos pacientes, o consenso concluiu que a DC deve ser oferecida a crianças após a ausência de resposta a duas ou três medicações antiepilépticas, independente da idade ou sexo e, principalmente nas epilepsias generalizadas sintomáticas, devido a sua eficácia e a pouca chance de controle de crise com novos FAE. A DC é o tratamento de escolha para Síndrome de De Vivo -deficiência do transportador de glicose tipo 1 (Klepper J et Leiendecker B, 2007) e para a deficiência de piruvato desidrogenase. (Wexler et al, 1997), quando os corpos cetônicos contornam o defeito metabólico, sendo fonte de energia para o cérebro.…”

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Dieta Cetogênica

Sampaio¹

2014

Anais Do 2° Congresso Internacional Sabará De Especialidades Pediátricas

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GLUT1 deficiency syndrome – 2007 update

Cited by 226 publications

References 92 publications

Syndrome de déficit en transporteur du glucose de type 1

Syndrome de déficit en transporteur du glucose de type 1

Quantitative Proteomics Characterization of a Mouse Embryonic Stem Cell Model of Down Syndrome

Dieta Cetogênica

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