News & Updates

Find the latest web site changes and database entry notifications on this page.

News: 

  • 19Oct2011:
    • updated the submission page; was previously defunct due to Google Sites administration changes that had corrupted the page


  • 28Oct2010:
    • new version of M.A.T. uploaded
    • EXONIC mutations updated

  • 27Oct2010:
    • M.A.T. is currently out of commission due to increasing programming demands for complex mutations (e.g., insertion/deletions) and the associated nomenclature. The changes have been implemented but need to be tested. A new version ought to be up shortly. Because some of the more complex mutations listed on the Exonic page may have been incorrectly computed by M.A.T., this particular page is currently suspended.

  • 25Oct2010:
    • "New" subpage eliminated; all newly entered data are directly integrated into the full database
    • new options for sorting the data (e.g., "...show me all SNPs in the C-terminus...", "...only GEFS+ mutations sorted by topology", etc.) by simply selecting the desired filter in the column header
    • all data hyperlinked to the original publication
    • all variation feature HGVS nomenclature
    • M.A.T. now able to reverse-compute amino acid substitutions to the nucleic acid level (useful if a publication does not provide nucleic acid information)


15Aug10:

Ebrahimi et al., Arch Med Res 41:207, 2010

Exonic

  • T1234A = F412I
  • T3280A = Y1274N

24May10:

Pérez Delgado et al., Neurologia.25:90, 2010:

Exonic

  • T829G = C277G

Suls et al, Neurology 2010 May 19 [Epub ahead of print, PMID: 20484682]

Genomic
  • 0.44 Mb deletion involving SCN1A and one adjacent gene; unusual mosaicism in father

Combi et al., Rain Res Bull 79:89, 2009:

Multiple adjustments for this report were necessary: the group likely worked with the Nav1.1[-33] sequence, although one of the changes must be a misreport (Arg1916Gly - +1 shifted by one residue). I tried to align with the provided ENSEMBL sequence, but none of the bases provided (29159 = C, 66962 = A - Exon 25 not 26, 68027 = T) is consistent with the reported changes. From what I can deduce, the changes in full-length Nav1.1 are as follows:

Exonic (denoted in standard HGVS nomenclature)

  • c.1625G>A or Arg542Gln (reported as ENS00000144285, pos 29159G>A, producing Arg542Gln)
  • c.5779A>G or Arg1927Gly (reported as ENS00000144285, pos 68027A>G, producing Arg1916Gly)
SNP (albeit with associated with childhood absence epilepsy)
  • c.4717T>C or Leu1573Leu (reported as ENS00000144285, pos 66962C>T, producing Leu1561Leu)

Sun et al., J Hum Genet 2010 April 30 [Epub ahead of print, PMID: 20431604]
(some previously reported not listed here)

Exonic:

  • T269C = F90S
  • T272C = I91T
  • C777A = S259R
  • [GC]1183-1184del, 1183[A]1184ins = A395fsX400
  • [CA]1410-1411del = S470fsX484
  • [T]1667del = L556fsX557
  • C1834T = R612X
  • C2303T = W768L (adjusted from W768X)
  • 2304[GACC]2304ins = P768fsX772
  • [G]2752del = D918fsX934
  • C2815T = H939Y
  • T2854G = W952G
  • 3462[T]3463ins = G1154fsX1155 (adjusted from S1155X)
  • [G]3487del = V1163X
  • C3629A = T1210K
  • 2726[AT]2727ins = Y1241fsX1270 (adjusted from 2726[AT]3727ins)
  • A3778C = T1260P
  • G3858A = W1286X
  • T3860C = L1287P
  • [TT]4244-4245del = F1415X
  • G4298A = G1433E
  • G4757A = G1586E
  • [A]4822del = D1608fsX1617 (adjusted from F1608fsX1617)
  • [CTC]5250-5252del, 5250[GG]5251ins = S1750fsX1778
  • [G]5334del = V1778fsX1800
  • A5536T = K1846X
Intronic
  • Int10(+)A3G
  • Int16(-)C21A
  • Int18(+)T2A
  • Int19(+)G1T
SNP
  • G1662A = Q554Q
  • G4476A = K1492K
Genomic
  • deletion involving exons 3-10
  • deletion involving exons 22-23



18May10:

Herini et al., Pediatr Int 52:234, 2010

Exonic:

  • G4834A = V1612I
  • T5266G = C1756G

Herini et al., Epilepsy Res 2010 May 7. [Epub ahead of print], (PMID: 20384724)

Intronic:
  • Int8(+)T199G
  • Int14(-)G98T
  • Int23(-)A149G
SNP:
  • A5286C = G1762G

21Apr10:

Heron et al., Epilepsia. 2010 Apr 2. [Epub ahead of print], (PMID: 20384724):

  • microduplication at 2q24.3 (involves 3' end of SCN1A)

Nishri et al., Eur J Paediatr Neurol. 2010 Apr 12. [Epub ahead of print], (PMID: 20392657):
  • V1637E... no nucleic acid information provided
     

9Apr10:

Takatsuki et al., Am J Med Genet 152A:1020, 2010

  • 7.5-Mb deletion of 2q24.2q24.3

1Apr10:

Castro et al., Cephalalgia 29:308, 2008

  • C787G = V263V (sorry - overlooked this one for a long time)

29Mar10:

Arlier et al., J Child Neurol 19Jan2010 (PMID: 20110217)

Exonic:

  • [T]1033del = C345VFsX352
  • G2585A = R862Q
  • G2860A = E954K (originally reported as T954I)
Intronic:
  • Int14(+)G1A
Dimova et al, Pediatr Neurol 42:137, 2010
  • C3925T = L1309F

22Oct09:

Society for Neuroscience, Annual Meeting: Ogiwara I., Ito  E., Mazaki E., Kaneda M., and K. Yamakawa, Analysis of alternative promoters of voltage-gated sodium channel αI gene,  Sun Oct 18, 9:00 - 10:00 AM, Poster 147.2/I4:

Genomic:

  • deletion of exons 1a, 1b (along with full ablation of SCN9A and SCN7A) causing SMEI
  • deletion of exons 1a, 1e, 1b, 1g causing SMEB

 

19Oct09:

Gokben et al., Neuropediarics 40:82, 2009

Exonic:

  • reports novel mutation R1645X, which was first reported by Fukuma et al., Epilepsia 45:140 (2004)

SNP:

  • A1245G = I415M    (adjust from A1245G = V415I)

 

17Oct09:

Selmer et al., Epilepsy Behav (doi:10.1016/j.yebeh.2009.08.021)

  • Int2(+)A1G
Riva et al., Am J Med Genet A 149A:2339, 2009
  • [TT]277-278del = L93EFsX94
  • in the same publication: G3295T = E1099X (first report by Mancardi et al., Epilepsia 47:1629, 2006)

 Provenzano et al, Hum Genet 126:329, 2009

  • Int7(+)[A]4del

Herini et al., Pediatr Int  (doi: 10.1111/j.1442-200X.2009.02916.x)

  • T5266G = C1756G
  • in the same publication: G4834A = V1612I (first report by Depienne et al., J Med Genet 46:183, 2009)


15Jun09:

All reported by Orrico et al., Clin Genet 75:579 (2009)

Exonic

  • [113bp]265-377del = T89TFsX111 (adjusted record)
  • G541T = E181X
  • G931T = E311X
  • [CA]1348-1349del, [G]1348_1349ins = Q450GfsX489 (adjusted record)
  • C2584T = R862X
  • T2696C = I899T
  • G2928A = M976I
  • [AATC]3190-3193del = N1064IfsX1078
  • G3748C = T1250P (adjusted record)
  • C3749T = T1250M
  • A3924T = E1308D
  • [T]4763_4764ins = C1588CfsX1608 (adjusted record)
  • [AA]5086-5087del = K1696EfsX1702

Intronic

  • Int5(+)G1A = splice junction problem?

 

3Jun09:

  • T1162C = Y388H   (Mahoney et al., Seizure, 20May09 - Epub ahead of print, PMID: 19464195 )

 

15May09:

All reported by Marini et al., Epilepsia, 11Mar09 - Epub ahead of print, PMID:  19400878

All large-scale genomic alterations; please excuse: only approximate genetic info at this point.

  • exon 3 deletion
  • exon 2-6 deletion
  • exon 1-13 deletion
  • deletion of SCN1A,  SCN9A (partial?), and 1 adjacent gene
  • deletion of SCN1A, SCN9A, SCN7A and approximately 25 adjacent genes
  • SCN1A, SCN2A, SCN3A, SCN7A, SCN9A and 40 adjacent genes
  • deletion of SCN1A, SCN9A, SCN7A and 3 adjacent genes
  • exon 7-26 deletion
  • exon 17-21 deletion
  • exon 26 amplification (5-6x)
  • exon 26 duplication
  • exon 8-16 duplication (maternal mosaicism)

 

4May09:

  • A5656G = Arg1916Gly   (Rusconi et al., Hum Mutat 28Apr09 - Epub ahead of print, PMID: 19402159)

 

27Apr09:

All reported by Siegler et al., Ideggyogy Sz. 61:402 (2008)

Note: PubMed incorrectly lists this report under the first names of the authors. Use the PubMed ID 19070316 to find it.

Exonic:

  • [AA]78_79del = Glu26GluFsX43 (SMEB)
  • 603G>T, 604T>G = Ala201Ala, Tyr202Asp, part of 5’ splice junction!
  • 1246A>T = Asn416Tyr
  • [T]2726_2727ins = Met909SerFsX934 (SMEB)
  • 3418G>T = Glu1140X (SMEB)
  • [CGATTAAGACGA]3740_3751del = [ThrIleLysThr]1247-1250del
  • [A]4078del = Ile1360PheFsX1366 (SMEB)
  • 4126T>C = Cys1376Arg
  • 4228A>T = Asn1410Tyr
  • 4634T>G = Ile1545Arg
  • [CA]5488_5489del = Gln1830ValFsX1835

Intronic:

  • Int8(+)G3T (SMEB)

A note on the phenotypes: Per author, patients listed as "SMEB" are without myoclonus or absence, only hemiconvulsions and GTC, while the clinical course is identical to Dravet's syndrome. All other mutations came from classical Dravet patients.

11Apr09:

 Genomic deletions reported by Depienne et al., J Med Genet 46:183 (2009)... sorry, forgot these last time.

  • Ex1-23del
  • Ex 1-16del
  • Ex2-21del
  • Ex7-9del
  • Ex9del
  • Ex14-20del
  • Ex22-26del
  • Ex24del
  • full gene deletion (no other info avail.)

11Apr09:

  • T652C = F218L (Livingston et al., J Child Neurol 24:503, 2009)
  • G4467C = Q1489H (Vahedi et al., Neurology 72:1178, 2009)
  • T4495C = F1499L (Vahedi et al., Neurology 72:1178, 2009)

21Jan09:

All the following came from Depienne and colleagues     (J Med Genet 46(3):183-91, 2009)

  • A1T = M1L
  • [G]127del = D43fsX91
  • G173T = G58V
  • C181T = L61F
  • [TA]272-273del = I91SfsX94
  • [TT]350-351del = L117QfsX122
  • T371A = I124N
  • Int2(+)A1C = ?
  • Int3(+)G1A = ?
  • Int3(+)G5A = ?
  • Int3(-)A2C = ?
  • T512G = I171R
  • A571T = N191Y
  • C573G = N191K
  • G575A = W192X
  • A581G = D194G
  • Int4(+)G1T = ?
  • C668A = A223E
  • Int5(+)T2G = ?
  • G694A = G232S
  • C728A = S243Y
  • [CGTA]777-780del = S259SfsX262
  • T829C = C277R
  • C842T = P281L
  • C962G = S321X
  • T1033C = C345R
  • G1064A = G355D
  • A1070T = N357I
  •  1095[T]1096ins = D366X
  • T1133A = L378Q
  • Int8(-)G1T = ?
  • A1277G = Y426C
  • C1348T = Q450X
  • 1408[T]1409ins = S470FfsX485
  • G1366T = E456X
  • G1537T = E513X
  • C1738T = R580X
  • C1837T = R613X
  • [A]1873del = T625PfsX671
  • G2078A = R693K; [CAAGTTCTTT]2081-2090del = S694SfsX701
  • [AC]2133-2134T = Q711HfsX714
  • T2370A = Y790X
  • G2495A = W832X
  • [TTGAC]2504-2508del = F835WfsX841
  • A2527C = S843R
  • C2529G = S843R
  • [G]2543del = G848DfsX876
  • 2544[AT]2545ins = L849TfsX914
  • [G]2569del = V857FfsX876
  • C2575T = R859C
  • [C]2635del = L879X
  • [T]2639del = L880KfsX893
  • G2686C = V896L
  • G2780T = C927F
  • A2816C = H939P
  • C5364A = N1788K
  • [ATTG]2827-2830del = I943CfsX952
  • T2828A = I943N
  • G2846A = C949Y
  • G2846C = C949S
  • C2904A = C968X
  • T2918A = M973K
  • Int15(-)T10G = ?
  • T2957C = L986P
  • A2993G = D998G
  • 3181[AGTT]3182ins = S1060Sfs1061X
  • C3311A = S1104X
  • Int16(+)G5A = ?
  • C3452G = S1151X
  • G3656A = W1219X
  • Int18(-)T3G = ?
  • G3715T = D1239Y
  • A3716G = D1239G
  • C3764A = A1255D
  • C3783A = Y1261X
  • Int19(+)G1A = ?
  • G3948T = R1316S
  • [AG]3957-3958del = R1319SfsX1330
  • T3982C = S1328P
  • C3985T = R1329X
  • Int20(+)G1T = ?
  • Int20(+)1Gdel = ?
  • [TA]4022-4023del = L1341WfsX1377
  • T4101A = N1367K
  •  [A]4133del = N1378TfsX1390
  • A4172G = N1391S
  • [C]4189del = L1397X
  • [GA]4201-4202del = E1401KfsX1403
  • [TT]4244-4245del = F1415X
  • A4247G = D1416G
  •  [A]4254del = V1418fsX1437
  • Int21(-)[25 bases]18del (includes first 7 bases of exon 22)
  • T4291A = F1431I
  • A4311G = I1437M
  • T4359G = Y1453X
  • [GAAA]4363-4366del = E1455VfsX1474
  • [CTTT]4386-4389del = Y1462X
  • [TTC]4417-4419del = F1473del
  • [CAT]4446-4448del = I1483del
  • A4451G = D1484G
  • 4516[CAGAAGAA]4517ins = K1506NfsX1514
  • 4539[A]4540ins = L1514IfsX1536
  • [A]4554del = K1518NfsX1538
  • Int24(+)1[T]2ins = ?
  • Int24(+)G1A = ?
  • Int24(-)G1T = ?
  •  G4612A = V1538I
  • A4631C = D1544A
  • G4681A = E1561K
  • [T]4720del = S1574HfsX1590
  • T4736A = V1579E
  • G4757A = G1586E
  • G4787T = R1596L
  • [T]4827del = F1609LfsX1617
  • G4834A = V1612I
  • [GATC]4911-4914del = I1638VfsX1648
  • C4915G = R1639G
  • G4954T  = G1652X
  • C4973T = T1658M
  • T4991A = M1664K
  • T5024G = L1675R
  •  C5029T = L1677F
  • [C]5040del = M1681CfsX1714
  • [G]5083del = V1695LfsX1714
  • T5141A = M1714K
  • G5173T = G1725C
  • 5186[T]5187ins = L1729FfsX1737
  • T5312A = I1771N
  • T5341C = Y1781H
  • T5345G = I1782S
  • C5346G = I1782M
  • C5348T = A1783V
  • G5435C = W1812S
  • C5503T = L1835F
  • 5506[G]5507ins = E1836GfsX1860
  • 5573[T]5574ins = G1859WfsX1860
  • 5598[A]5599ins = I1867NfsX1944
  • [T]5600del = I1867TfsX1875
  • G5641T = E1881X

 

9Jan09:

  • A5311T = I1771F     (Okumura et al., Neuropediatrics 38:253, 2007)
  • T5600C = I1867T     (Hindocha et al., Epilepsia 49:360, 2008)

 

5Dec08:

  • C2125T = Q709X     (personal communication)

 

7Nov08:

  • [GGATTA]2560-2565del = [GL]854-855del    (personal communication)

 

17Oct08:

  • Depienne and co-workers publish an enormous collection of unreported mutations; cross-check of these data against the SCN1A infobase is currently on-going
    (JMG, doi:10.1136/jmg.2008062323)

 

1Oct08:

  • A4379G = Y1460C     (S. M. Chiu, Montreal Children's Hospital - personal communication)

 

23Sep08:

  • Int16(+)T2C     (Kumakura et al., Brain Dev, doi:10.1016/j.braindev.2008.06.001)
  •  Q1203fsX1207     (McArdle et al., Am J Med Genet A146A:2421, 2008)