Novel mutation in a patient with late onset GLUT1 deficiency syndrome

Brain and Development

Volumn 39, Issue 4, 2017, Pages 352-355

  Juozapaite, Sandra ^a   Praninskiene, Ruta ^a   Burnyte, Birute ^a   Ambrozaityte, Laima ^a   Skerliene, Birute ^a  

^a VILNIUS UNIVERSITY   (Lithuania)

Author keywords

Glucose transporter 1 deficiency syndrome; Ketogenic diet; Movement disorder; Paroxysmal dyskinesia; SLC2A1 gene

Indexed keywords

CARBAMAZEPINE; ETHOSUXIMIDE; GLUCOSE TRANSPORTER 1; LAMOTRIGINE; LEVETIRACETAM; OXCARBAZEPINE; TOPIRAMATE; VALPROIC ACID; GLUCOSE TRANSPORTER; SLC2A1 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; CASE REPORT; CHICKENPOX; CLINICAL FEATURE; CLINICAL OUTCOME; DIET RESTRICTION; DRUG SUBSTITUTION; DRUG WITHDRAWAL; ELECTROENCEPHALOGRAPHY; EMOTIONAL STRESS; EPILEPSY; EXON; FEMALE; GENE MUTATION; GENERALIZED EPILEPSY; GENETIC ANALYSIS; GENETIC VARIABILITY; GLUCOSE TRANSPORTER 1 DEFICIENCY SYNDROME; HUMAN; INBORN ERROR OF METABOLISM; KETOGENIC DIET; LATE ONSET DISORDER; PAROXYSMAL KINESIGENIC DYSKINESIA; SANGER SEQUENCING; SIDE EFFECT; TONIC CLONIC SEIZURE; BRAIN; CARBOHYDRATE METABOLISM, INBORN ERRORS; DEFICIENCY; DIAGNOSTIC IMAGING; DIFFERENTIAL DIAGNOSIS; GENETICS; MUTATION; PATHOPHYSIOLOGY; PRESCHOOL CHILD;

BRAIN; CARBOHYDRATE METABOLISM, INBORN ERRORS; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FEMALE; GLUCOSE TRANSPORTER TYPE 1; HUMANS; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION;

EID: 85007552220     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2016.11.007     Document Type: Article

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