A proposed diagnostic approach for infantile spasms based on a spectrum of variable aetiology

European Journal of Paediatric Neurology

Volumn 18, Issue 2, 2014, Pages 176-182

  Poulat, Anne Lise ^a   Lesca, Gaetan ^a   Sanlaville, Damien ^a   Blanchard, Gaelle ^a   Lion François, Laurence ^a   Rougeot, Christelle ^a   Des Portes, Vincent ^a   Ville, Dorothée ^a  

^a HOSPICES CIVILS DE LYON   (France)

Author keywords

Aetiology; Infantile spasms; West syndrome

Indexed keywords

AGYRIA; AICARDI SYNDROME; ANTICONVULSANT THERAPY; ARTICLE; BRAIN DISEASE; BRAIN MALFORMATION; CEREBROVASCULAR ACCIDENT; CONSANGUINITY; CORTICAL DYSPLASIA; DOWN SYNDROME; ELECTROENCEPHALOGRAM; EPILEPTIC ENCEPHALOPATHY; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; HUMAN; HYPOXIC ISCHEMIC ENCEPHALOPATHY; HYPSARRHYTHMIA; INFANT; INFANTILE SPASM; JACOBSEN SYNDROME; KARYOTYPING; LENNOX GASTAUT SYNDROME; MAJOR CLINICAL STUDY; MALE; MEDICAL HISTORY; MICROGYRIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PRACTICE GUIDELINE; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; RETROSPECTIVE STUDY; SUBCORTICAL HETEROTOPIA; TUBEROUS SCLEROSIS; WEST SYNDROME; WHITE MATTER LESION;

AETIOLOGY; INFANTILE SPASMS; WEST SYNDROME;

AGE OF ONSET; BRAIN; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; RETROSPECTIVE STUDIES; SPASMS, INFANTILE;

EID: 84895089399     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2013.11.005     Document Type: Article

References (20)

1. A.L. Lux, and J.P. Osborne A proposal for case definitions and outcome measures in studies of infantile spasms and West syndrome: consensus statement of the West Delphi group Epilepsia 45 2004 1416 1428
2. J.M. Pellock, R. Hrachovy, S. Shinnar, T.Z. Baram, D. Bettis, and D.J. Dlugos et al. Infantile spasms: A U.S. consensus report Epilepsia 51 10 2010 Jul 1 2175 2189
3. L. Lagae, H. Verhelst, and B. Ceulemans et al. Treatment and long term outcome in West syndrome: the clinical reality. A multicentre follow up study Seizure 19 2010 159 164
4. J. Engel ILAE classification of epilepsy syndromes Epilepsy Res 70 2006 S5 S10
5. J. Engel Jr. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology Epilepsia 42 2001 796 803
6. S. Ohtahara, Y. Ohtsuka, Y. Yamatogi, E. Oka, H. Yoshinaga, and M. Sato Prenatal etiologies of West syndrome Epilepsia 34 1993 716 722
7. G. Karvelas, A. Lortie, M.H. Scantlebury, P.T. Duy, P. Cossette, and L. Carmant A retrospective study on aetiology based outcome of infantile spasms Seizure 18 2009 197 201
8. J.P. Osborne, A.L. Lux, and S.W. Edwards et al. The underlying etiology of infantile spasms (West syndrome): information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification Epilepsia 51 2010 2168 2174
9. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE commission on classification and terminology, 2005-2009 Epilepsia 51 4 2010 Apr 676 685
10. N. Specchio, M. Trivisano, F. Vigevano, and L. Fusco Idiopathic West Syndrome followed by childhood absence epilepsy Seizure 19 2010 597 601
11. F. Vigevano, L. Fusco, R. Cusmai, D. Claps, S. Ricci, and L. Milani The idiopathic form of West syndrome Epilepsia 34 1993 743 746
12. H. Hattori Spontaneous remission of spasms in West syndrome: implications of viral infection Brain Dev 23 2001 705 707
13. A.R. Paciorkowski, L.L. Thio, and W.B. Dobyns Genetic and biologic classification of infantile spasms Pediatr Neurol 45 2011 355 367
14. N. Bahi-Buisson, A. Kaminska, and N. Boddaert et al. The three stages of epilepsy in patients with CDKL5 mutations Epilepsia 49 2008 1027 1037
15. M. Suri The phenotypic spectrum of ARX mutations Dev Med Child Neurol 47 2005 133 137
16. C. Mignot, M.-L. Moutard, and O. Trouillard et al. STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients Epilepsia 52 2011 1820 1827
17. C.R. Marshall, E.J. Young, and A.M. Pani et al. Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11 Am J Hum Genet 83 2008 106 111
18. M. Zweier, and A. Rauch The MEF2C-related and 5q14.3q15 microdeletion syndrome Mol Syndromol 2 2012 164 170
19. P. Striano, R. Paravidino, and F. Sicca et al. West syndrome associated with 14q12 duplications harboring FOXG1 Neurology 76 2011 1600 1602
20. I.M. Campbell, S.A. Yatsenko, and P. Hixson et al. Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A Genet Med Off J Am Coll Med Genet 2012 Available at: http://www.ncbi.nlm.nih.gov/pubmed/22722545