First report of glucose transporter 1 deficiency syndrome in Korea with a novel splice site mutation

Gene

Volumn 506, Issue 2, 2012, Pages 380-382

  Woo, Sat Byul ^a   Lee, Kon Hee ^a   Kang, Hoon Chul ^b   Yang, Hong ^c   De Vivo, Darryl C ^c   Kim, Sung Koo ^a  

^a Hallym University College of Medicine   (South Korea)

^b Yonsei University College of Medicine   (South Korea)

^c New York Presbyterian Columbia University Medical Center   (United States)

Author keywords

Glucose transporter 1 deficiency syndrome; Modified Atkins diet (MAD); Splice site mutation

Indexed keywords

CARBAMAZEPINE; GLUCOSE; GLUCOSE TRANSPORTER 1; PHENOBARBITAL; VALPROIC ACID;

ANTICONVULSANT THERAPY; APNEA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CARBOHYDRATE INTAKE; CASE REPORT; CEREBROSPINAL FLUID LEVEL; CHILD; DIET RESTRICTION; DIET THERAPY; DRUG TREATMENT FAILURE; ERYTHROCYTE; EYELID REFLEX; GASTROINTESTINAL SYMPTOM; GENE; GLUCOSE BLOOD LEVEL; GLUCOSE TRANSPORT SYSTEM; GLUCOSE TRANSPORTER 1 DEFICIENCY SYNDROME; GLUCOSE TRANSPORTER 1 GENE; HAPLOTYPE; HETEROZYGOTE; HUMAN; INFANT; INTRACTABLE EPILEPSY; INTRON; KETOGENIC DIET; LUMBAR PUNCTURE; MALE; MODIFIED ATKINS DIET; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; SOUTH KOREA; SPLICING DEFECT; TONIC CLONIC SEIZURE; TREATMENT OUTCOME; VOMITING;

CARBOHYDRATE METABOLISM, INBORN ERRORS; ERYTHROCYTES; FAMILY HEALTH; FEMALE; GLUCOSE; GLUCOSE TRANSPORTER TYPE 1; HUMANS; INFANT, NEWBORN; KOREA; MALE; MUTATION; RNA SPLICING; SYNDROME; TIME FACTORS;

EID: 84864543815     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.06.095     Document Type: Article

References (14)

1. De Vivo D.C., Trifiletti R.R., Jacobson R.I., Ronen G.M., Behmand R.A., Harik S.I. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N. Engl. J. Med. 1991, 325:703-709.
2. De Vivo D.C., Leary L., Wang D. Glucose transporter 1 deficiency syndrome and other glycolytic defects. J. Child Neurol. 2002, 17(Suppl. 3):3S15-23. (discussion 3S24-5).
3. Friedman J.R., et al. Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet. Mov. Disord. 2006, 21:241-245.
4. Fujii T., et al. Three Japanese patients with glucose transporter type 1 deficiency syndrome. Brain Dev. 2007, 29:92-97.
5. Fung E.L., et al. First report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 gene. Brain Dev. 2011, 33:170-173.
6. Ito S., Oguni H., Ito Y., Ishigaki K., Ohinata J., Osawa M. Modified Atkins diet therapy for a case with glucose transporter type 1 deficiency syndrome. Brain Dev. 2008, 30:226-228.
7. Klepper J. GLUT1 deficiency syndrome in clinical practice. Epilepsy Res 2011, (Epub ahead of print).
8. Klepper J., et al. Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome. Neurochem. Res. 1999, 24:587-594.
9. Klepper J., Scheffer H., Elsaid M.F., Kamsteeg E.J., Leferink M., Ben-Omran T. Autosomal recessive inheritance of GLUT1 deficiency syndrome. Neuropediatrics 2009, 40:207-210.
10. Kossoff E.H., McGrogan J.R., Bluml R.M., Pillas D.J., Rubenstein J.E., Vining E.P. A modified Atkins diet is effective for the treatment of intractable pediatric epilepsy. Epilepsia 2006, 47:421-424.
11. Leary L.D., Wang D., Nordli D.R., Engelstad K., De Vivo D.C. Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome. Epilepsia 2003, 44:701-707.
12. Leen W.G., et al. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain 2010, 133:655-670.
13. Pardridge W.M., Boado R.J., Farrell C.R. Brain-type glucose transporter (GLUT-1) is selectively localized to the blood-brain barrier. Studies with quantitative western blotting and in situ hybridization. J. Biol. Chem. 1990, 265:18035-18040.
14. Seidner G., et al. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat. Genet. 1998, 18:188-191.