Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

W.G. Leen; J. Klepper; M.M. Verbeek; M. Leferink; T. Hofste; B.G. van Engelen; R.A. Wevers; T. Arthur; N. Bahi-Buisson; D. Ballhausen; J. Bekhof; P. van Bogaert; I. Carrilho; B. Chabrol; M.P. Champion; J. Coldwell; P. Clayton; E. Donner; A. Evangeliou; F. Ebinger; K. Farrell; R.J. Forsyth; C.G. de Goede; S. Gross; S. Grunewald; H. Holthausen; S. Jayawant; K. Lachlan; V. Laugel; K. Leppig; M.J. Lim; G. Mancini; A.D. Marina; L. Martorell; J. McMenamin; M.E. Meuwissen; H. Mundy; N.O. Nilsson; A. Panzer; B.T. Poll-The; C. Rauscher; C.M. Rouselle; I. Sandvig; T. Scheffner; E. Sheridan; N. Simpson; P. Sykora; R. Tomlinson; J. Trounce; D. Webb; B. Weschke; H. Scheffer; M.A. Willemsen

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

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Date

2010

Type de document

Articles

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Publications

Langue

Anglais

Identifiant

doi: 10.1093/brain/awp336

Source

Serveur académique Lausannois

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Ce document est lié à :
info:eu-repo/semantics/altIdentifier/doi/10.1093/brain/awp336

Ce document est lié à :
info:eu-repo/semantics/altIdentifier/pmid/20129935

Ce document est lié à :
info:eu-repo/semantics/altIdentifier/pissn/1460-2156[electronic], 0006-8950[linking]

Ce document est lié à :
info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_2A2F5C0661752

Collection

Serveur Académique Lausannois

Organisation

Université de Lausanne et CHUV

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info:eu-repo/semantics/openAccess , Copying allowed only for non-profit organizations , https://serval.unil.ch/disclaimer

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Adolescent; Adult; Age of Onset; Carbohydrate Metabolism, Inborn Errors/diagnosis; Carbohydrate Metabolism, Inborn Errors/genetics; Child; Child, Preschool; Dyskinesias/diagnosis; Dyskinesias/genetics; Epilepsy/diagnosis; Epilepsy/genetics; Female; Glucose Transporter Type 1/deficiency; Glucose Transporter Type 1/genetics; Humans; Infant; Ketogenic Diet; Male; Mental Retardation/diagnosis; Mental Retardation/genetics; Mutation; Phenotype; Retrospective Studies; Syndrome; Young Adult

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W.G. Leen et al., « Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. », Serveur académique Lausannois, ID : 10.1093/brain/awp336

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Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex ligation-dependent probe amplification. Mutations in the SLC2A1 gene were detected in 54 patients (41%) and subsequently in three clinically affected family members. In these 57 patients we identified 49 different mutations, including six multiple exon deletions, six known mutations and 37 novel mutations (13 missense, five nonsense, 13 frame shift, four splice site and two translation initiation mutations). Clinical data were retrospectively collected from referring physicians by means of a questionnaire. Three different phenotypes were recognized: (i) the classical phenotype (84%), subdivided into early-onset (

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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

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