Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy

Developmental Medicine and Child Neurology

Volumn 58, Issue 10, 2016, Pages 1085-1091

  Barba, Carmen ^a   Darra, Francesca ^b   Cusmai, Raffaella ^c   Procopio, Elena ^a   Dionisi Vici, Carlo ^c   Keldermans, Liesbeth ^d   Vuillaumier Barrot, Sandrine ^e   Lefeber, Dirk J ^f   Guerrini, Renzo ^a,g   Parrini, Elena ^h   Ashikov, Angel ^h   Bordugo, Andrea ^h   Cantalupo, Gaetano ^h   Casara, Gianluca ^h   Bernardina, Bernardo Dalla ^h   Falchi, Melania ^h   Ferri, Lorenzo ^h   Martinelli, Diego ^h   Morrone, Amelia ^h   Race, Valerie ^h   Rosati, Anna ^h   Souche, Erika ^h   more..

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY HOSPITAL OF VERONA   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^e BICHAT HOSPITAL   (France)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^h NONE

Author keywords

[No Author keywords available]

Indexed keywords

LIPOOLIGOSACCHARIDE; TRANSFERRIN;

ALG1 GENE; ALG3 GENE; ARTICLE; BIOCHEMICAL ANALYSIS; BRAIN ATROPHY; BRAIN DISEASE; CARBOHYDRATE ANALYSIS; CEREBELLUM ATROPHY; CLINICAL ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; ELECTROGRAPHY; EPILEPTIC ENCEPHALOPATHY; EPILEPTIC STATE; FEMALE; FOCAL EPILEPSY; FOLLOW UP; GENE; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; INFANCY; INFANT; ISOELECTRIC FOCUSING; MALE; MICROCEPHALY; MULTIPLE ORGAN FAILURE; NEUROIMAGING; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; PNEUMONIA; PRIORITY JOURNAL; RESPIRATORY FAILURE; RFT1 GENE;

EID: 84985896529     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/dmcn.13141     Document Type: Article

References (20)

1. Jaeken J. Congenital disorders of glycosylation. Handb Clin Neurol 2013; 113: 1737–43.
2. Barone R, Fiumara A, Jaeken J. Congenital disorders of glycosylation with emphasis on cerebellar involvement. Semin Neurol 2014; 34: 357–66.
3. Freeze HH, Eklund EA, Ng BG, Patterson MC. Neurological aspects of human glycosylation disorders. Annu Rev Neurosci 2015; 38: 105–25.
4. Melani F, Mei D, Pisano T, et al. CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. Dev Med Child Neurol 2011; 53: 354–60.
5. Coppola G, Plouin P, Chiron C, Robain O, Dulac O. Migrating partial seizures in infancy: a malignant disorder with developmental arrest. Epilepsia 1995; 36: 1017–24.
6. Barcia G, Fleming MR, Deligniere A, et al. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet 2012; 44: 1255–59.
7. Stödberg T, McTague A, Ruiz AJ, et al. Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. Nat Commun 2015; 6: 8038.
8. Striano P, Coppola G, Zara F, Nabbout R. Genetic heterogeneity in malignant migrating partial seizures of infancy. Ann Neurol 2014; 75: 324–26.
9. Howell KB, McMahon JM, Carvill GL, et al. SCN2A encephalopathy: a major cause of epilepsy of infancy with migrating focal seizures. Neurology 2015; 85: 958–66.
10. Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 2014; 11: 361–62.
11. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010; 7: 248–49.
12. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009; 4: 1073–81.
13. Vleugels W, Haeuptle MA, Ng BG, et al. RFT1 deficiency in three novel CDG patients. Hum Mutat 2009; 30: 1428–34.
14. Haeuptle MA, Hennet T. Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. Hum Mutat 2009; 30: 1628–41.
15. Denecke J, Kranz C, Kemming D, Koch H-G, Marquardt T. An activated 5′ cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id). Hum Mutat 2004; 23: 477–86.
16. Grubenmann CE, Frank CG, Hülsmeier AJ, et al. Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. Hum Mol Genet 2004; 13: 535–42.
17. Berg AT, 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: 676–85.
18. Bedoyan JK, Kumar RA, Sudi J, et al. Duplication 16p11.2 in a child with infantile seizure disorder. Am J Med Genet A 2010; 152A: 1567–74.
19. Strømme P, Maehlen J, Strøm Eh, Torvik A. Postmortem findings in two patients with the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr 1991; 80: 55–62.
20. Aronica E, van Kempen AA, van der Heide M, et al. Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology. Acta Neuropathol 2005; 109: 433–42.