Autosomal recessive inheritance of GLUT1 deficiency syndrome

Neuropediatrics

Volumn 40, Issue 5, 2009, Pages 207-210

  Klepper, J ^a   Scheffer, H ^b   Elsaid, M F ^c   Kamsteeg, E J ^b   Leferink, M ^b   Ben Omran, T ^c  

^a Childrens Hospital Aschaffenburg   (Germany)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c HAMAD MEDICAL CORPORATION   (Qatar)

Author keywords

arabs; autosomal recessive; blood brain barrier; childhood epilepsy; GLUT1; GLUT1 deficiency; homozygosity; ketogenic diet; paroxysmal exertion induced dyskinesia; Qatar; SLC2A1

Indexed keywords

GLUCOSE; GLUCOSE TRANSPORTER 1; LACTIC ACID;

ALLELE; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CHILD; DEVELOPMENTAL DISORDER; EPILEPSY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC COUNSELING; GLUCOSE BLOOD LEVEL; GLUT1 DEFICIENCY SYNDROME; HETEROZYGOTE; HUMAN; KETOGENIC DIET; LACTATE BLOOD LEVEL; MUSCLE HYPOTONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; WILD TYPE; CHEMICAL STRUCTURE; GENETICS; METABOLIC ENCEPHALOPATHY; NUCLEOTIDE SEQUENCE; PEDIGREE;

BRAIN DISEASES, METABOLIC, INBORN; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GLUCOSE TRANSPORTER TYPE 1; HUMANS; MODELS, MOLECULAR; PEDIGREE;

EID: 77953462287     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0030-1248264     Document Type: Article

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