From splitting GLUT1 deficiency syndromes to overlapping phenotypes

European Journal of Medical Genetics

Volumn 58, Issue 9, 2015, Pages 443-454

  Hully, Marie ^a   Vuillaumier Barrot, Sandrine ^b   Le Bizec, Christiane ^b   Boddaert, Nathalie ^a   Kaminska, Anna ^a   Lascelles, Karine ^c   de Lonlay, Pascale ^a   Cances, Claude ^d   des Portes, Vincent ^e   Roubertie, Agathe ^f   Doummar, Diane ^g   LeBihannic, Anne ^h   Degos, Bertrand ⁱ   de Saint Martin, Anne ^j   Flori, Elisabeth ^j   Pedespan, Jean Michel ^k   Goldenberg, Alice ^l   Vanhulle, Catherine ^l   Bekri, Soumeya ^l   Roubergue, Anne ^g   Heron, Bénédicte ^g   Cournelle, Marie Anne ^m   Kuster, Alice ⁿ   Chenouard, Alexis ⁿ   Loiseau, Marie Noelle ^o   Valayannopoulos, Vassili ^a   Chemaly, Nicole ^a   Gitiaux, Cyril ^a   Seta, Nathalie ^b   Bahi Buisson, Nadia ^a   more..

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b BICHAT HOSPITAL   (France)

^c ST THOMAS HOSPITAL   (United Kingdom)

^d TOULOUSE UNIVERSITY HOSPITAL   (France)

^e HOSPICES CIVILS DE LYON   (France)

^f MONTPELLIER UNIVERSITY HOSPITAL   (France)

^g ARMAND TROUSSEAU HOSPITAL   (France)

^h Hospital of St Brieuc   (France)

ⁱ PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^j UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^k HÔPITAL PELLEGRIN   (France)

^l ROUEN UNIVERSITY HOSPITAL   (France)

^m Pays d'Aix Hospital   (France)

ⁿ NANTES UNIVERSITY HOSPITAL   (France)

^o POITIERS UNIVERSITY HOSPITAL   (France)

more..

Author keywords

Child; Epilepsy; Genotype; Glut1 deficiency syndrome (GLUT1DS); Outcome; Phenotype

Indexed keywords

GLUCOSE TRANSPORTER 1; GLUCOSE TRANSPORTER; SLC2A1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL FEATURE; DELAYED DIAGNOSIS; DIET RESTRICTION; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; GENETIC DISORDER; GLUCOSE TRANSPORTER 1 DEFICIENCY SYNDROME; HETEROZYGOSITY; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOTOR DYSFUNCTION; MYOCLONUS SEIZURE; NEUROIMAGING; PHENOTYPE; POINT MUTATION; PROTEIN DEFICIENCY; CARBOHYDRATE METABOLISM, INBORN ERRORS; DEFICIENCY; GENETIC ASSOCIATION STUDY; GENETICS; KETOGENIC DIET; METABOLISM; MUSCLE HYPOTONIA; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; RETROSPECTIVE STUDY; SEIZURE; YOUNG ADULT;

ADOLESCENT; ADULT; CARBOHYDRATE METABOLISM, INBORN ERRORS; CHILD; CHILD, PRESCHOOL; EPILEPSY; FEMALE; GENETIC ASSOCIATION STUDIES; GLUCOSE TRANSPORTER TYPE 1; HUMANS; INFANT; KETOGENIC DIET; MAGNETIC RESONANCE IMAGING; MALE; MONOSACCHARIDE TRANSPORT PROTEINS; MOVEMENT DISORDERS; MUSCLE HYPOTONIA; MUTATION; PHENOTYPE; RETROSPECTIVE STUDIES; SEIZURES; YOUNG ADULT;

EID: 84946739445     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2015.06.007     Document Type: Article

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