Alternating hemiplegia of childhood with a de novo mutation in atp1a3 and changes in SLC2A1 responsive to a ketogenic diet

Pediatric Neurology

Volumn 50, Issue 4, 2014, Pages 377-379

  Ulate Campos, Adriana ^a   Fons, Carmen ^b   Artuch, Rafael ^c   Castejón, Esperanza ^a   Martorell, Loreto ^c   Ozelius, Laurie ^d   Pascual, Juan ^e   Campistol, Jaume ^b  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^d MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

alternating hemiplegia of childhood; ATP1A3; GLUT1 deficiency syndrome; GLUT1 DS; ketogenic diet; SLC2A1

Indexed keywords

ATP1A3 PROTEIN; DNA; FLUNARIZINE; FLUORODEOXYGLUCOSE F 18; GLUCOSE; GLUCOSE TRANSPORTER 1; PROTEIN; UNCLASSIFIED DRUG; ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM); ATP1A3 PROTEIN, HUMAN; SLC2A1 PROTEIN, HUMAN;

ALTERNATING HEMIPLEGIA OF CHILDHOOD; ARTICLE; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CHILD; CHILDHOOD DISEASE; CLONIC SEIZURE; CONSCIOUSNESS DISORDER; CONVERGENT STRABISMUS; DIFFERENTIAL DIAGNOSIS; DNA SEQUENCE; DYSTONIC DISORDER; ELECTROENCEPHALOGRAM; EXERCISE; EYE MOVEMENT DISORDER; FEMALE; FOLLOW UP; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; GENETIC VARIABILITY; GESTATIONAL AGE; GLUCOSE BLOOD LEVEL; GLUCOSE BRAIN LEVEL; HEMIPLEGIA; HUMAN; KETOGENIC DIET; LUMBAR PUNCTURE; MICROCEPHALY; MUSCLE HYPOTONIA; PHENOTYPE; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; RARE DISEASE; SCHOOL CHILD; TREATMENT RESPONSE; TREMOR; WHEELCHAIR; BRAIN; DIET THERAPY; GENE EXPRESSION REGULATION; GENETICS; MUTATION; SCINTISCANNING;

BRAIN; CHILD; FEMALE; GLUCOSE TRANSPORTER TYPE 1; HEMIPLEGIA; HUMANS; KETOGENIC DIET; MUTAGENESIS, INSERTIONAL; MUTATION; POSITRON-EMISSION TOMOGRAPHY; SODIUM-POTASSIUM-EXCHANGING ATPASE;

EID: 84896363905     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2013.11.017     Document Type: Article

References (15)

1. C. Fons, J. Campistol, and E. Panagiotakaki et al. Alternating hemiplegia of childhood: Metabolic studies in the largest European series of patients Eur J Paediatr Neurol 16 2012 10 14
2. E. Panagiotakaki, G. Gobbi, and B. Neville et al. Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults Brain 133 2010 3598 3610
3. M. Bourgeois, J. Aicardi, and F. Goutières Alternating hemiplegia of childhood J Pediatr 122 1993 673 679 (Pubitemid 23134948)
4. E. Heinzen, K. Swoboda, and Y. Hitomi et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood Nat Genet 44 2012 1030 1034
5. H. Rosewich, H. Thiele, and Ohlenbusch et al. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole exome sequencing gene-identification study Lancet Neurol 11 2012 764 773
6. A. Ishii, Y. Saito, and J. Mitsui et al. Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients PLoS One 8 2013 e56120
7. J. Klepper, H. Scheffer, and B. Leiendecker et al. Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively Neuropediatrics 36 2005 302 308 (Pubitemid 41501116)
8. S. Vuillaurnier-Barrot, E. Panagiotakaki, and C. Le Bizc et al. Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood Neuropediatrics 41 2010 267 269
9. W.G. Leen, J. Klepper, and M.M. Verbeek et al. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder Brain 133 2010 655 670
10. T.S. Pearson, C. Akman, V.J. Hinton, K. Engelstad, and D.C. De Vivo Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS) Curr Neurol Neurosci Rep 13 2013 342
11. W.G. Leen, M.A. Willemsen, R.A. Wevers, and M.M. Verbeek Cerebrospinal fluid glucose and lactate: age-specific reference values and implications for clinical practice PLoS One 7 2012 e42745
12. J.M. Pascual, R.L. Van Heertum, D. Wang, K. Engelstad, and D.C. De Vivo Imaging the metabolic footprint of Glut1 deficiency on the brain Ann Neurol 52 2002 458 464
13. J.M. Pascual, D. Wang, and B. Lecumberri et al. GLUT1 deficiency and other glucose transporter diseases Eur J Endocrinol 150 2004 627 633 (Pubitemid 38786531)
14. D. De Vivo, R. Trifiletti, R. Jacobson, G. Ronen, R. Behmand, and S. Harik Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay N Engl J Med 325 1991 703 709
15. J. Pascual, R.L. Van Heertum, D. Wang, K. Engelstad, and D.C. De Vivo Imaging the metabolic footprint of Glut1 deficiency on the brain Ann Neurol 52 2002 458 464