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

To prospectively evaluate the etiology of new‐onset infantile spasms and evaluate the yield of genetic and metabolic investigations in those without obvious cause after initial clinical evaluation and magnetic resonance imaging (MRI).

[1]  Jiao Chen,et al.  Screening of Inherited Metabolic Disorders in Infants with Infantile Spasms , 2015, Cell Biochemistry and Biophysics.

[2]  H. Mefford,et al.  The genetic landscape of infantile spasms. , 2014, Human molecular genetics.

[3]  Michael R. Johnson,et al.  De novo mutations in the classic epileptic encephalopathies , 2013, Nature.

[4]  J. Shendure,et al.  Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 , 2013, Nature Genetics.

[5]  B. Kamien,et al.  A genetic diagnostic approach to infantile epileptic encephalopathies , 2012, Journal of Clinical Neuroscience.

[6]  William B Dobyns,et al.  Genetic and biologic classification of infantile spasms. , 2011, Pediatric neurology.

[7]  H. Mefford,et al.  Epilepsy and the new cytogenetics , 2011, Epilepsia.

[8]  Richard W Newton,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 2 , 2010, Epilepsia.

[9]  Shlomo Shinnar,et al.  Infantile spasms: A U.S. consensus report , 2010, Epilepsia.

[10]  J. H. Cross,et al.  Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005–2009 , 2010, Epilepsia.

[11]  R. Kuzniecky,et al.  Guidelines for imaging infants and children with recent‐onset epilepsy , 2009, Epilepsia.

[12]  F. Gurrieri,et al.  Rearrangements of chromosome 15 in epilepsy. , 2001, American journal of medical genetics.

[13]  M. Yeargin-Allsopp,et al.  The Descriptive Epidemiology of Infantile Spasms Among Atlanta Children , 1999, Epilepsia.

[14]  O. Eeg‐Olofsson,et al.  Epidemiology of Infantile Spasms in Sweden , 1995, Epilepsia.

[15]  H. Chugani,et al.  Workshop on Infantile Spasms , 1992 .

[16]  De novo mutations in epileptic encephalopathies , 2013 .

[17]  M. Nieto Barrera.  [Infantile spasms]. , 1990, Anales espanoles de pediatria.