NM_020822.3(KCNT1):c.2280C>G (p.Ile760Met) AND Early infantile epileptic encephalopathy 14

Clinical significance:Pathogenic (Last evaluated: Nov 1, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000032796.5

Allele description [Variation Report for NM_020822.3(KCNT1):c.2280C>G (p.Ile760Met)]

NM_020822.3(KCNT1):c.2280C>G (p.Ile760Met)

Gene:
KCNT1:potassium sodium-activated channel subfamily T member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_020822.3(KCNT1):c.2280C>G (p.Ile760Met)
HGVS:
  • NC_000009.12:g.135775346C>G
  • NG_033070.1:g.78162C>G
  • NM_001272003.2:c.2145C>G
  • NM_020822.3:c.2280C>GMANE SELECT
  • NP_001258932.1:p.Ile715Met
  • NP_065873.2:p.Ile760Met
  • NC_000009.11:g.138667192C>G
  • NM_020822.2:c.2280C>G
Protein change:
I715M; ILE760MET
Links:
OMIM: 608167.0004; dbSNP: rs370521183
NCBI 1000 Genomes Browser:
rs370521183
Molecular consequence:
  • NM_001272003.2:c.2145C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020822.3:c.2280C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Early infantile epileptic encephalopathy 14 (DEE14)
Synonyms:
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14
Identifiers:
MONDO: MONDO:0013989; MedGen: C3554195; Orphanet: 293181; OMIM: 614959

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000056564OMIMno assertion criteria providedPathogenic
(Nov 1, 2012)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.

Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, Chen H, Kronengold J, Abhyankar A, Cilio R, Nitschke P, Kaminska A, Boddaert N, Casanova JL, Desguerre I, Munnich A, Dulac O, Kaczmarek LK, Colleaux L, Nabbout R.

Nat Genet. 2012 Nov;44(11):1255-9. doi: 10.1038/ng.2441. Epub 2012 Oct 21.

PubMed [citation]
PMID:
23086397
PMCID:
PMC3687547

Details of each submission

From OMIM, SCV000056564.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 6-month-old girl (patient 6) of Ukrainian origin with developmental and epileptic encephalopathy-14 (DEE14; 614959) manifest clinically as MMPSI, Barcia et al. (2012) identified a de novo heterozygous 2280C-G transversion in exon 20 of the KCNT1 gene, resulting in an ile760-to-met (I760M) substitution at a highly conserved residue. The patient had onset of seizures on the third day of life.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 6, 2021

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