NM_001165963.1(SCN1A):c.5250_5252delCTC (p.Ser1750_Ser1751delinsArg) AND Severe myoclonic epilepsy in infancy

Clinical significance:Pathogenic (Last evaluated: Dec 20, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000180805.1

Allele description

NM_001165963.1(SCN1A):c.5250_5252delCTC (p.Ser1750_Ser1751delinsArg)

Genes:
SCN1A:sodium channel, voltage gated, type I alpha subunit [Gene - OMIM]
LOC102724058:uncharacterized LOC102724058 [Gene]
Variant type:
Deletion
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001165963.1(SCN1A):c.5250_5252delCTC (p.Ser1750_Ser1751delinsArg)
HGVS:
  • NC_000002.12:g.165992023_165992025delGAG
  • NG_011906.1:g.86615_86617delCTC
  • NM_001165963.1:c.5250_5252delCTC
  • NM_006920.4:c.5217_5219delCTC
  • NP_001159435.1:p.Ser1750_Ser1751delinsArg
  • NP_008851.3:p.Ser1739_Ser1740delinsArg
  • LRG_8t1:c.5217_5219delCTC
  • LRG_8:g.86615_86617delCTC
  • LRG_8p1:p.Ser1739_Ser1740delinsArg
  • NC_000002.11:g.166848533_166848535delGAG
Links:
dbSNP: rs794726703
NCBI 1000 Genomes Browser:
rs794726703
Molecular consequence:
  • NM_006920.4:c.5217_5219delCTC - inframe_variant - [Sequence Ontology: SO:0001650]

Condition(s)

Name:
Severe myoclonic epilepsy in infancy (EIEE6)
Synonyms:
Epilepsy, Myoclonic, Infantile, Severe; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6; Dravet syndrome; See all synonyms [MedGen]
Identifiers:
MedGen: C0751122; Orphanet: 33069; OMIM: 607208
Age of onset:
Neonatal/infancy

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000221762Center for Bioinformatics, Peking University - University Clinical Cooperation “985 Project” PKU-2014-1-1

See additional submitters

criteria provided, single submitter
Pathogenic
(Dec 20, 2014)
de novoresearch

PubMed (1)
[See all records that cite this PMID]

Citation Link

Description

Dravet syndrome (DS) probands were recruited from the outpatient and inpatient child neurology units of Peking University First Hospital from 2005 till present. The study was approved by the Ethics Committee of Peking University First Hospital and the Institutional Review Board at Peking University. Participants or their parents provided written informed consent before enrollment. We collected a total of 267 mutations from 255 families with probands diagnosed with DS in China. All probands fulfilled the clinical diagnostic criteria.

SCV000221762

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Chinesede novoyes1not providednot providednot providednot providedresearch

Citations

PubMed

Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.

Xu X, Yang X, Wu Q, Liu A, Yang X, Ye AY, Huang AY, Li J, Wang M, Yu Z, Wang S, Zhang Z, Wu X, Wei L, Zhang Y.

Hum Mutat. 2015 Sep;36(9):861-72. doi: 10.1002/humu.22819. Epub 2015 Jul 24.

PubMed [citation]
PMID:
26096185
PMCID:
PMC5034833

Details of each submission

From Center for Bioinformatics, Peking University - University Clinical Cooperation “985 Project” PKU-2014-1-1, SCV000221762.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Chinese1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 9, 2015