A different SLC2A1 gene mutation in glut 1 deficiency syndrome: C.734a>C

Balkan Medical Journal

Volumn 34, Issue 6, 2017, Pages 580-583

  Çolak, Rüya ^a   Alkan Özdemir, Senem ^a   Yangın Ergon, Ezgi ^a   Kağnıcı, Mehtap ^a   Çalkavur, Şebnem ^a  

^a DR BEHÇET UZ CHILDREN'S HOSPITAL   (Turkey)

Author keywords

Glut 1 deficiency syndrome; Mutation; Neonatal seizures

Indexed keywords

AMINO ACID; CEFOTAXIME; CYSTEINE; DOBUTAMINE; DOPAMINE; GLUCOSE; GLUCOSE TRANSPORTER 1; LACTIC ACID; LEVETIRACETAM; MIDAZOLAM; PHENOBARBITAL; PHENYTOIN; PYRIDOXINE; PYRUVIC ACID; SULPHOCYSTEINE; UNCLASSIFIED DRUG; VANCOMYCIN; VERY LONG CHAIN FATTY ACID; GLUCOSE TRANSPORTER; SLC2A1 PROTEIN, HUMAN;

ARTICLE; ARTIFICIAL VENTILATION; ASPHYXIA; BLOOD EXAMINATION; BODY TEMPERATURE; BREATHING RATE; CASE REPORT; CEREBROSPINAL FLUID; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CONSANGUINITY; CRANIAL TOMOGRAPHY; DRUG DOSE INCREASE; ELECTROENCEPHALOGRAPHY; FATTY ACID ANALYSIS; FOLLOW UP; GENE MUTATION; GENETIC VARIABILITY; GENETICS; GLUCOSE TRANSPORTER TYPE 1 DEFICIENCY SYNDROME; HETEROZYGOSITY; HICCUP; HUMAN; HUMAN TISSUE; HYPOTENSION; INFANT; INTRACTABLE EPILEPSY; KETOGENIC DIET; MAINTENANCE THERAPY; MALE; MANDIBULAR SIGN SEIZURE; METABOLIC DISORDER; MICROSCOPY; NUCLEAR MAGNETIC RESONANCE IMAGING; OXYGEN SATURATION; PATHOGENESIS; PROTEIN DEFICIENCY; RESPIRATORY ARREST; SEIZURE; SLC2A1 GENE; TANDEM MASS SPECTROMETRY; TREATMENT PLANNING; URINALYSIS; URINARY SULPHIDE TEST; DEFICIENCY; DIET THERAPY; DISORDERS OF CARBOHYDRATE METABOLISM; FATHER; GENETIC SCREENING; MICROCEPHALY; MUTATION; NEWBORN; PATHOPHYSIOLOGY;

CARBOHYDRATE METABOLISM, INBORN ERRORS; DIET, KETOGENIC; FATHERS; GENETIC TESTING; GLUCOSE TRANSPORTER TYPE 1; HUMANS; INFANT, NEWBORN; MALE; MICROCEPHALY; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION; SEIZURES;

EID: 85038264009     PISSN: 21463123     EISSN: 21463131     Source Type: Journal    
DOI: 10.4274/balkanmedj.2016.1376     Document Type: Article

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