RFT1-congenital disorder of glycosylation (CDG) syndrome: A cause of early-onset severe epilepsy

Epileptic Disorders

Volumn 18, Issue 1, 2016, Pages 92-96

  Aeby, Alec ^a   Prigogine, Cynthia ^a   Vilain, Catheline ^a   Malfilatre, Geneviève ^b   Jaeken, Jaak ^c   Lederer, Damien ^d   Van Bogaert, Patrick ^a  

^a ERASME HOSPITAL   (Belgium)

^b Centre Hospitalier Universitaire de Tivoli   (Belgium)

^c UNIVERSITY OF LEUVEN   (Belgium)

^d IPG   (Belgium)

Author keywords

Congenital disorder of glycosylation (CDG) syndrome; Early onset epileptic encephalopathy (EOEE); EEG; Epilepsy; N glycosylation; RFT1

Indexed keywords

CLONAZEPAM; ETIRACETAM; MIDAZOLAM; PHENOBARBITAL; PHENYTOIN; PYRIDOXINE; TOPIRAMATE; VALPROIC ACID; VIGABATRIN; MEMBRANE PROTEIN; RFT1 PROTEIN, HUMAN;

ADD ON THERAPY; AMNIOCENTESIS; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; CONTINUOUS INFUSION; DISEASE ASSOCIATION; DISEASE EXACERBATION; DISEASE SEVERITY; ECHOGRAPHY; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; FOCAL EPILEPSY; HEARING IMPAIRMENT; HUMAN; HYDRAMNIOS; LABORATORY TEST; MALE; MUSCLE SPASM; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT DISEASE; RFT1 CONGENITAL DISORDER OF GLYCOSYLATION SYNDROME; TONIC CLONIC SEIZURE; BRAIN; GENETICS; GLYCOSYLATION; INFANT; MUTATION; PATHOPHYSIOLOGY;

BRAIN; EPILEPSY; FEMALE; GLYCOSYLATION; HUMANS; INFANT; MALE; MEMBRANE GLYCOPROTEINS; MUTATION;

EID: 84961683929     PISSN: 12949361     EISSN: 19506945     Source Type: Journal    
DOI: 10.1684/epd.2016.0802     Document Type: Article

References (14)

1. Baycin-Hizal D, Wolozny D, Colao J, et al. Glycoproteomic and glycomic databases. Clinical Proteomics 2014; 11: 15.
2. Beal J, Cherian K, Moshe S. Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy. Pediatr Neurol 2012; 47: 317-23.
3. Berg A, Berkovic SF, Brodie MJ, et al. Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 2010; 51(4): 676-85.
4. Clayton PT, Grunewald S. Comprehensive description of the phenotype of the first case of congenital disorder of glycosylation due to RFT1 deficiency (CDG In). J Inherit Metab Dis 2009; 32(1): S137-9.
5. Cross H, Guerrini R. The epileptic encephalopathies. Handbook of clinical neurology, Vol 111 (3rd series). In: Dulac O, Lassonde M, Sarnat, HB. Pediatric Neurology Part 1. Elsevier, 2013: 619-26.
6. Djukic A, Lado FA, Shinnar S, Moshé SL. Are early myoclonic encephalopathy (EME) and the Ohtahara syndrome (EIEE) independent of each other? Epilepsy Res 2006; 70(1): S68-76.
7. Grünewald S, Huyben K, de Jong JG, et al. beta-Trace protein in human cerebrospinal fluid: A diagnostic marker for N-glycosylation defects in brain. Biochim Biophys Acta 1999; 1455(1): 54-60.
8. Helenius J, Ng DTW, Marolda CL,Walter P, Valvano MA, Aebi M. Translocation of lipid-linked oligosaccharides across the ER membrane requires Rft1 protein. Nature 2002; 415: 447-50.
9. Jaeken J. Congenital disorders of glycosylation. AnnNYAcad Sci 2010; 1214: 190-8.
10. Jaeken J, Vleugels W, Régal L, et al. RFT1-CDG: Deafness as a novel feature of congenital disorders of glycosylation. J Inherit Metab Dis 2009; 32(1): S335-8.
11. Ohtahara S, Yamatogi Y. Ohtahara syndrome: With special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. Epilepsy Res 2006; 70(1): S58-67.
12. Ondruskova N, Vesela K, Hansikova H, Magner M, Zeman J, Honzik T. RFT1-CDG in adult siblings with novel mutations. Mol Genet Metab 2012; 107(4): 760-2.
13. Rexach JE, Clark PM, Hsieh-Wilson LC. Chemical approaches to understanding O-GlcNAc glycosylation in the brain. Nat Chem Biol 2008; 4(2): 97-106.
14. Vleugels W, Haeuptle MA, Ng BG, et al. RTF1 deficiency in three novel CDG patients. Hum Mutat 2009; 30(10): 1428-34.