NM_020822.3(KCNT1):c.2688G>A (p.Met896Ile) AND Epilepsy, nocturnal frontal lobe, 5

Clinical significance:Pathogenic (Last evaluated: Feb 19, 2015)

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

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000192060.3

Allele description [Variation Report for NM_020822.3(KCNT1):c.2688G>A (p.Met896Ile)]

NM_020822.3(KCNT1):c.2688G>A (p.Met896Ile)

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.2688G>A (p.Met896Ile)
HGVS:
  • NC_000009.12:g.135778781G>A
  • NG_033070.1:g.81597G>A
  • NM_001272003.2:c.2553G>A
  • NM_020822.3:c.2688G>AMANE SELECT
  • NP_001258932.1:p.Met851Ile
  • NP_065873.2:p.Met896Ile
  • NC_000009.11:g.138670627G>A
  • NM_020822.2:c.2688G>A
Protein change:
M851I; MET896ILE
Links:
OMIM: 608167.0008; dbSNP: rs797044544
NCBI 1000 Genomes Browser:
rs797044544
Molecular consequence:
  • NM_001272003.2:c.2553G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020822.3:c.2688G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Epilepsy, nocturnal frontal lobe, 5 (ENFL5)
Synonyms:
CILIARY DYSKINESIA, PRIMARY, 28, WITHOUT SITUS INVERSUS; CILIARY DYSKINESIA, PRIMARY, 28, WITH SITUS INVERSUS
Identifiers:
MONDO: MONDO:0014002; MedGen: C3554306; Orphanet: 98784; OMIM: 615005

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000056568OMIMno assertion criteria providedPathogenic
(Nov 1, 2012)
germlineliterature only

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

SCV000211891GeneReviewsno assertion criteria providedPathogenic
(Feb 19, 2015)
germlineliterature only

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.

Heron SE, Smith KR, Bahlo M, Nobili L, Kahana E, Licchetta L, Oliver KL, Mazarib A, Afawi Z, Korczyn A, Plazzi G, Petrou S, Berkovic SF, Scheffer IE, Dibbens LM.

Nat Genet. 2012 Nov;44(11):1188-90. doi: 10.1038/ng.2440. Epub 2012 Oct 21.

PubMed [citation]
PMID:
23086396

Details of each submission

From OMIM, SCV000056568.3

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

Description

In an Australian boy of British descent with nocturnal frontal lobe epilepsy (ENFL5; 615005), Heron et al. (2012) identified a de novo heterozygous 2688G-A transition in the KCNT1 gene, resulting in a met896-to-ile (M896I) substitution at a highly conserved residue within the NAD(+)-binding site. No functional studies were performed. The patient had onset of refractory seizures at age 9 years and showed a behavioral/psychiatric disorder, but had normal intellectual function.

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

From GeneReviews, SCV000211891.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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