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Table 3 Comparison between this study and published CNV and WES studies of infantile spasms

From: A genomic copy number variant analysis implicates the MBD5 and HNRNPUgenes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion

CNV studies   WES (epi4K)4,18
No of case This study Mefford, et al[37] Tiwari, et al[8] Paciokowski, et al[7] Epi4K Consortium & Epilepsy Phenome/Genome Project
  47 44 13 N/A (clinical case series from diagnostic lab) infantile spasms ( n = 149) Lennox–Gastaut syndrome (n = 115).
Pathogenic/Possible pathogenic CNV 4 3 4 11 329 de novo mutation
  De novo: De novo: De novo: De novo: Mutations in more than one proband
  17p13 115 kb del Xp22 290 kb del 15q11 4.8 Mb dup 2p16.1 4.0 Mb del SCN1A; STXBP1; GABRB3;
  1q44 2.1 Mb del 16p11. 2.5 Mb dup 16p11.2 595 kb dela 3p26.3 1.6 Mb dup CDKL5; SCN8A; SCN2A;
  2q23.1 4.1 Mb del 3q11 1.64 Mb dup Xp22.11 dela,b 7q11.23 1.4 Mb del ALG13; DNM1; HDAC4
  1q21 2.1 Mb dup    14q12 3.3 Mb dup  
    Inherited: 14q32.3 317 kb dup Other candidate genes:
    2q32.3 421 kb del 15q11-q13 5.3 Mb dup CACN1A; CHD2; FLNA;
     19q12 1.3 Mb del GABRB1; GRIN1; GRIN2B;
     20p13 1.9 Mb del HNRNPU; IQSEC2; MTOR;
     21q21 1.3 Mb dup NEDD4L
     21q21 1.3 Mb dup  
     Xp22.2 435 kb dup  
     2q24.3 21.5 Mb dup  
  1. aThe two CNV observed in one proband.
  2. bSize is unknown.
  3. del, deletion; dup, duplication.