NC_000020.11:g.(?_63413450)_(63415126_?)del AND Benign familial neonatal seizures 1

delete

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 31, 2016
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:: RCV000408703.1

Allele description

NC_000020.11:g.(?_63413450)_(63415126_?)del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

20q13.33

Preferred name:

NC_000020.11:g.(?_63413450)_(63415126_?)del

HGVS:

NC_000020.11:g.(?_63413450)_(63415126_?)del
p.?
NM_172107.2:c.1479-768_c.1940+579del3018bp

Condition(s)

Name:: Benign familial neonatal seizures 1 (BFNS1)
Synonyms:: KCNQ2-Related Disorders; Benign Neonatal Epilepsy 1; KCNQ2-Related Benign Familial Neonatal Epilepsy
Identifiers:: MedGen: C1852587; Orphanet: 1949; OMIM: 121200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000484623	GeneReviews	no assertion criteria provided	Pathogenic (Mar 31, 2016)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 17675531, 25982755 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000484623

GeneReviews

no assertion criteria provided

Pathogenic
(Mar 31, 2016)

germline

literature only

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

Heron SE, Cox K, Grinton BE, Zuberi SM, Kivity S, Afawi Z, Straussberg R, Berkovic SF, Scheffer IE, Mulley JC.

J Med Genet. 2007 Dec;44(12):791-6. Epub 2007 Aug 3.

PubMed [citation]

PMID:: 17675531
PMCID:: PMC2652819

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

Grinton BE, Heron SE, Pelekanos JT, Zuberi SM, Kivity S, Afawi Z, Williams TC, Casalaz DM, Yendle S, Linder I, Lev D, Lerman-Sagie T, Malone S, Bassan H, Goldberg-Stern H, Stanley T, Hayman M, Calvert S, Korczyn AD, Shevell M, Scheffer IE, Mulley JC, et al.

Epilepsia. 2015 Jul;56(7):1071-80. doi: 10.1111/epi.13020. Epub 2015 May 15.

PubMed [citation]

PMID:: 25982755

Details of each submission

From GeneReviews, SCV000484623.1

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

Description

BFNE (benign familial neonatal epilepsy)

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

Last Updated: May 26, 2018

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