How should children with West syndrome be efficiently and accurately investigated? Results from the National Infantile Spasms Consortium

Epilepsia

Volumn 56, Issue 4, 2015, Pages 617-625

  Wirrell, Elaine C ^a   Shellhaas, Renéee A ^b   Joshi, Charuta ^c   Keator, Cynthia ^d   Kumar, Shilpi ^e   Mitchell, Wendy G ^f   Berg, A ^g   Brooks Kayal, A ^h   Coryell, J ⁱ   Dlugos, D ^j   Gaillard, W D ^k   Goodkin, H ^l   Grinspan, Z ^m   Jansen, L ^l   Knupp, K ^h   Kossoff, E ⁿ   Hartman, A L ⁿ   Hussain, S ^o   Joshi, S ^b   Loddenkemper, T ^p   Millichap, J J ^g   Mytinger, J ^q   Nickels, K ^a   Nordli, D ^g   Ryan, N ^j   Sanchez Fernandez, I ^r   Sullivan, J ^s   Valencia, I ^t   Wong Kisiel, L ^a   Wusthoff, C ^u   Yozawitz, E ^v   more..

^a MAYO CLINIC   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

^c UNIVERSITY OF IOWA   (United States)

^d Pediatric Cardiothoracic Surgery   (United States)

^e WRIGHT STATE UNIVERSITY   (United States)

^f UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^g Lurie Childrens   (United States)

^h Children's Hospital Colorado   (United States)

ⁱ OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^j CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^k Childrens National Medical Center

^l UNIVERSITY OF VIRGINIA   (United States)

^m Department of Obstetrics Gynecology   (United States)

ⁿ Johns Hopkins   (United States)

^o UNIVERSITY OF CALIFORNIA   (United States)

^p HARVARD UNIVERSITY   (United States)

^q NATIONWIDE CHILDREN S HOSPITAL   (United States)

^r Nationwide Childrens ^*  (United States)

^s UNIVERSITY OF CALIFORNIA   (United States)

^t DREXEL UNIVERSITY   (United States)

^u STANFORD UNIVERSITY   (United States)

^v Montefiore   (United States)

more..

Author keywords

Diagnostic test assessment; Infantile spasms; Observational cohort; Pediatric; West syndrome

Indexed keywords

AMINO ACID; CARBOXYLIC ACID; LACTIC ACID;

AMINO ACID BLOOD LEVEL; ARTICLE; BRAIN MALFORMATION; CEREBROSPINAL FLUID ANALYSIS; CHILD; CLINICAL ASSESSMENT; COHORT ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; DATA BASE; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST; FEMALE; GENETIC DISORDER; GENETIC SCREENING; HUMAN; INFANT; INFANTILE SPASM; INFECTION; LACTATE BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; MEDICAL HISTORY; METABOLIC DISORDER; METABOLIC TESTING; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; URINALYSIS; WEST SYNDROME; CLINICAL TRIAL; FOLLOW UP; MULTICENTER STUDY; PROSPECTIVE STUDY; SPASMS, INFANTILE; TREATMENT OUTCOME; UNITED STATES;

CHILD; FOLLOW-UP STUDIES; HUMANS; INFANT; INFANT, NEWBORN; PROSPECTIVE STUDIES; SPASMS, INFANTILE; TREATMENT OUTCOME; UNITED STATES;

EID: 84927510091     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12951     Document Type: Article

References (16)

1. Pellock JM, Hrachovy R, Shinnar S, et al. Infantile spasms: a U.S. consensus report. Epilepsia 2010; 51: 2175-2189.
2. Trevathan E, Murphy CC, Yeargin-Allsopp M,. The descriptive epidemiology of infantile spasms among Atlanta children. Epilepsia 1999; 40: 748-751.
3. Sidenvall R, Eeg-Olofsson O,. Epidemiology of infantile spasms in Sweden. Epilepsia 1995; 36: 572-574.
4. Wong M, Trevathan E,. Infantile spasms. Pediatr Neurol 2001; 24: 89-98.
5. Epilepsy Commission on Pediatric Epilepsy of the International League Against Epilepsy. Workshop on infantile spasms. Epilepsia 1992; 33: 1995.
6. 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: 676-685.
7. Osborne JP, Lux AL, Edwards SW, 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 2010; 51: 2168-2174.
8. Gaillard WD, Chiron C, Cross JH, et al. Guidelines for imaging infants and children with recent-onset epilepsy. Epilepsia 2009; 50: 2147-2153.
9. Mulley JC, Mefford HC,. Epilepsy and the new cytogenetics. Epilepsia 2011; 52: 423-432.
10. Torrisi L, Sangiorgi E, Russo L, et al. Rearrangements of chromosome 15 in epilepsy. Am J Med Genet 2001; 106: 125-128.
11. Carvill GL, Heavin SB, Yendle SC, et al. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet 2013; 45: 825-830.
12. Allen AS, Berkovic SF, Cossette P, et al. De novo mutations in epileptic encephalopathies. Nature 2013; 501: 217-221.
13. Kamien BA, Cardamone M, Lawson JA, et al. A genetic diagnostic approach to infantile epileptic encephalopathies. J Clin Neurosci 2012; 19: 934-941.
14. Paciorkowski AR, Thio LL, Dobyns WB,. Genetic and biologic classification of infantile spasms. Pediatr Neurol 2011; 45: 355-367.
15. Michaud JL, Lachance M, Hamdan FF, et al. The genetic landscape of infantile spasms. Hum Mol Genet 2014; 23: 4846-4858.
16. Liu XM, Li R, Chen SZ, et al. Screening of inherited metabolic disorders in infants with infantile spasms. Cell Biochem Biophys 2014; Nov 23 [Epub ahead of print].