NM_172107.3(KCNQ2):c.794C>T (p.Ala265Val) AND Early infantile epileptic encephalopathy 7

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 2013
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000106299.2

Allele description

NM_172107.3(KCNQ2):c.794C>T (p.Ala265Val)

Gene:

KCNQ2:potassium voltage-gated channel subfamily Q member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.33

Genomic location:

Preferred name:

NM_172107.3(KCNQ2):c.794C>T (p.Ala265Val)

HGVS:

NC_000020.11:g.63442428G>A
NG_009004.2:g.35213C>T
NM_172107.3:c.794C>T
NP_742105.1:p.Ala265Val
NC_000020.10:g.62073781G>A
NM_172107.2:c.794C>T
p.A265V:GCG>GTG

Protein change:

A265V; ALA265VAL

Links:

OMIM: 602235.0015; dbSNP: rs587777219

NCBI 1000 Genomes Browser:

rs587777219

Molecular consequence:

NM_172107.3:c.794C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Early infantile epileptic encephalopathy 7 (EIEE7)
Synonyms:: KCNQ2-Related Neonatal Epileptic Encephalopathy
Identifiers:: MedGen: C3150986; Orphanet: 439218; OMIM: 613720
Age of onset:: Infancy
Prevalence:: <1 / 1 000 000 439218

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000143758	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 2013)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 22926866, 23621294

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000143758

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 2013)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.

Saitsu H, Kato M, Koide A, Goto T, Fujita T, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N.

Ann Neurol. 2012 Aug;72(2):298-300. doi: 10.1002/ana.23620. No abstract available.

PubMed [citation]

PMID:: 22926866

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

Kato M, Yamagata T, Kubota M, Arai H, Yamashita S, Nakagawa T, Fujii T, Sugai K, Imai K, Uster T, Chitayat D, Weiss S, Kashii H, Kusano R, Matsumoto A, Nakamura K, Oyazato Y, Maeno M, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, et al.

Epilepsia. 2013 Jul;54(7):1282-7. doi: 10.1111/epi.12200. Epub 2013 Apr 26.

PubMed [citation]

PMID:: 23621294

Details of each submission

From OMIM, SCV000143758.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a 3-month-old Japanese boy with EIEE7 (613720), Saitsu et al. (2012) identified a de novo heterozygous c.794C-T transition in the KCNQ2 gene, resulting in an ala265-to-val (A265V) substitution. The patient developed tonic spasms on the first day of life and then had intractable seizures. EEG showed a suppression-burst pattern. He had delayed development and no eye pursuit. The patient was 1 of 12 probands with a similar disorder who underwent whole-exome sequencing. Functional studies were not performed.

Kato et al. (2013) identified a de novo heterozygous A265V substitution in 2 unrelated Japanese patients with EIEE7. The mutations, which were found by whole-exome sequencing, were not present in 212 control exomes.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 6, 2016

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