MCID: CNV009
MIFTS: 18

Convulsions Benign Familial Neonatal Dominant Form

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Convulsions Benign Familial Neonatal Dominant Form

MalaCards integrated aliases for Convulsions Benign Familial Neonatal Dominant Form:

Name: Convulsions Benign Familial Neonatal Dominant Form 54
Autosomal Dominant Form of Benign Neonatal Seizures 54
Benign Familial Neonatal Convulsions 54
Benign Familial Neonatal Seizures 54
Familial Benign Neonatal Epilepsy 74
Epilepsy, Benign Neonatal, 2 74
Benign Familial Convulsion 74

Classifications:



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Summaries for Convulsions Benign Familial Neonatal Dominant Form

MalaCards based summary : Convulsions Benign Familial Neonatal Dominant Form, also known as autosomal dominant form of benign neonatal seizures, is related to benign neonatal seizures and seizures, benign familial neonatal, 1, and has symptoms including cyanosis Affiliated tissues include brain.

Related Diseases for Convulsions Benign Familial Neonatal Dominant Form

Graphical network of the top 20 diseases related to Convulsions Benign Familial Neonatal Dominant Form:



Diseases related to Convulsions Benign Familial Neonatal Dominant Form

Symptoms & Phenotypes for Convulsions Benign Familial Neonatal Dominant Form

UMLS symptoms related to Convulsions Benign Familial Neonatal Dominant Form:


cyanosis

Drugs & Therapeutics for Convulsions Benign Familial Neonatal Dominant Form

Search Clinical Trials , NIH Clinical Center for Convulsions Benign Familial Neonatal Dominant Form

Genetic Tests for Convulsions Benign Familial Neonatal Dominant Form

Anatomical Context for Convulsions Benign Familial Neonatal Dominant Form

MalaCards organs/tissues related to Convulsions Benign Familial Neonatal Dominant Form:

42
Brain

Publications for Convulsions Benign Familial Neonatal Dominant Form

Articles related to Convulsions Benign Familial Neonatal Dominant Form:

(show top 50) (show all 54)
# Title Authors Year
1
Two Novel KCNQ2 Mutations in 2 Families With Benign Familial Neonatal Convulsions. ( 28503627 )
2017
2
Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case. ( 23146207 )
2013
3
The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions. ( 20119593 )
2010
4
Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (BFNC). ( 19167866 )
2009
5
Benign familial neonatal convulsions: novel mutation in a newborn. ( 19380078 )
2009
6
Electroconvulsive seizure thresholds and kindling acquisition rates are altered in mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions. ( 19453707 )
2009
7
Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions. ( 19559753 )
2009
8
Developmental changes in KCNQ2 and KCNQ3 expression in human brain: possible contribution to the age-dependent etiology of benign familial neonatal convulsions. ( 18166285 )
2008
9
A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions. ( 18249525 )
2008
10
Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization. ( 18483067 )
2008
11
Benign familial neonatal convulsions: A family with a rare disorder. ( 19966980 )
2008
12
Benign familial neonatal convulsions: always benign? ( 17129708 )
2007
13
Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions. ( 17475800 )
2007
14
A novel missense mutation (N258S) in the KCNQ2 gene in a Turkish family afflicted with benign familial neonatal convulsions (BFNC). ( 18246739 )
2007
15
Decreased subunit stability as a novel mechanism for potassium current impairment by a KCNQ2 C terminus mutation causing benign familial neonatal convulsions. ( 16260777 )
2006
16
Andreas Rett and benign familial neonatal convulsions revisited. ( 16966552 )
2006
17
[Clinical and mutational analysis of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions]. ( 16883520 )
2006
18
Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC). ( 16235065 )
2005
19
A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family. ( 15178210 )
2004
20
KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. ( 14534157 )
2003
21
[A novel mutation of KCNQ2 gene in a Chinese family with benign familial neonatal convulsions]. ( 14669214 )
2003
22
Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3 potassium channels. ( 11784811 )
2002
23
Benign familial neonatal convulsions. ( 11910141 )
2002
24
A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions. ( 10852552 )
2000
25
Novel K+ channel genes in benign familial neonatal convulsions. ( 10961643 )
2000
26
Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor. ( 11175290 )
2000
27
[Benign familial neonatal convulsions: molecular pathology and diagnosis]. ( 10996911 )
2000
28
Benign familial neonatal convulsions followed by benign epilepsy with centrotemporal spikes in two siblings. ( 9924911 )
1999
29
Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions. ( 10323247 )
1999
30
[Benign familial neonatal convulsions: a model of idiopathic epilepsy]. ( 10472660 )
1999
31
Bilateral tonic-clonic epileptic seizures in non-benign familial neonatal convulsions. ( 9165519 )
1997
32
Benign familial neonatal convulsions: abnormal intrauterine movements, provocation by feeding and ICTAL EEG. ( 9530946 )
1997
33
Benign familial neonatal convulsions; psychosocial adjustment to the threat of recurrent seizures. ( 8902929 )
1996
34
Benign familial neonatal convulsions: confirmation of genetic heterogeneity and further evidence for a second locus on chromosome 8q. ( 7705837 )
1995
35
Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20. ( 7980108 )
1994
36
Neonate with benign familial neonatal convulsions: recorded generalized and focal seizures. ( 8024668 )
1994
37
Benign infantile familial convulsions are not an allelic form of the benign familial neonatal convulsions gene. ( 8154876 )
1994
38
Infantile spasms in one member of a family with benign familial neonatal convulsions. ( 8330571 )
1993
39
Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q. ( 8102508 )
1993
40
Seizure characteristics in chromosome 20 benign familial neonatal convulsions. ( 8327138 )
1993
41
Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20. ( 1577466 )
1992
42
Benign familial neonatal convulsions: generalized epilepsy? ( 1622522 )
1992
43
[Benign familial neonatal convulsions in a family with one member with infantile spasms]. ( 1419173 )
1992
44
Benign familial neonatal convulsions: clinical features of the propositus and comparison with the previously reported cases. ( 1853717 )
1991
45
Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity. ( 1859177 )
1991
46
Benign familial neonatal convulsions are epileptic. ( 1940136 )
1991
47
Benign familial neonatal convulsions linked to genetic markers on chromosome 20. ( 2918897 )
1989
48
Benign familial neonatal convulsions. ( 3804679 )
1986
49
Benign familial neonatal convulsions. ( 4055306 )
1985
50
Benign familial neonatal convulsions. ( 6412579 )
1983

Variations for Convulsions Benign Familial Neonatal Dominant Form

Expression for Convulsions Benign Familial Neonatal Dominant Form

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Sources for Convulsions Benign Familial Neonatal Dominant Form

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