BFNS2
MCID: SZR023
MIFTS: 20

Seizures, Benign Familial Neonatal, 2 (BFNS2)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Seizures, Benign Familial Neonatal, 2

MalaCards integrated aliases for Seizures, Benign Familial Neonatal, 2:

Name: Seizures, Benign Familial Neonatal, 2 57
Benign Familial Neonatal Seizures 2 29 6
Bfns2 57 75
Bfnc2 57 75
Convulsions, Benign Familial Neonatal, 2; Bfnc2 57
Seizures, Neonatal, Benign, Familial, Type 2 40
Benign Familial Neonatal Convulsions Type 2 75
Convulsions, Benign Familial Neonatal, 2 57
Seizures, Benign Familial Neonatal 2 75
Seizures, Benign Neonatal, Type 2 13
Seizures, Benign Neonatal, 2 57
Epilepsy, Benign Neonatal, 2 73
Benign Neonatal Epilepsy 2 75
Ebn2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset of seizures at 2-8 days of life
most remit by 2 months


HPO:

32
seizures, benign familial neonatal, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 121201
MedGen 42 C1852581
MeSH 44 D020936
SNOMED-CT via HPO 69 263681008 54200006
UMLS 73 C1852581

Summaries for Seizures, Benign Familial Neonatal, 2

OMIM : 57 Benign familial neonatal seizures-2 is an autosomal dominant neurologic condition characterized by onset of clonic or tonic-clonic seizures in the first few days of life. Seizures tend to last for about a minute, may occur several times a day, and are responsive to medication. Almost all patients have full remission within the first months of life, although some rare patients may have a few seizures later in childhood. EEG, brain imaging, and psychomotor development are usually normal (summary by Fister et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of benign familial neonatal seizures, see BFNS1 (121200). (121201)

MalaCards based summary : Seizures, Benign Familial Neonatal, 2, also known as benign familial neonatal seizures 2, is related to epilepsy, idiopathic generalized and benign familial neonatal epilepsy. An important gene associated with Seizures, Benign Familial Neonatal, 2 is KCNQ3 (Potassium Voltage-Gated Channel Subfamily Q Member 3). Affiliated tissues include brain, and related phenotypes are generalized tonic-clonic seizures and focal clonic seizures

UniProtKB/Swiss-Prot : 75 Seizures, benign familial neonatal 2: A disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age and show normal psychomotor development. The disorder is distinguished from benign familial infantile seizures by an earlier age at onset.

Related Diseases for Seizures, Benign Familial Neonatal, 2

Diseases in the Benign Neonatal Seizures family:

Seizures, Benign Familial Neonatal, 1 Seizures, Benign Familial Neonatal, 2
Seizures, Benign Familial Neonatal, Autosomal Recessive Seizures, Benign Familial Neonatal, 3
Seizures Benign Familial Neonatal Recessive Form

Diseases related to Seizures, Benign Familial Neonatal, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epilepsy, idiopathic generalized 11.0
2 benign familial neonatal epilepsy 11.0

Symptoms & Phenotypes for Seizures, Benign Familial Neonatal, 2

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures, afebrile
focal clonic seizures
generalized tonic-clonic seizures
increased risk of seizures in childhood or adulthood (11-16%)
normal psychomotor development


Clinical features from OMIM:

121201

Human phenotypes related to Seizures, Benign Familial Neonatal, 2:

32
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 32 HP:0002069
2 focal clonic seizures 32 HP:0002266

Drugs & Therapeutics for Seizures, Benign Familial Neonatal, 2

Search Clinical Trials , NIH Clinical Center for Seizures, Benign Familial Neonatal, 2

Genetic Tests for Seizures, Benign Familial Neonatal, 2

Genetic tests related to Seizures, Benign Familial Neonatal, 2:

# Genetic test Affiliating Genes
1 Benign Familial Neonatal Seizures 2 29 KCNQ3

Anatomical Context for Seizures, Benign Familial Neonatal, 2

MalaCards organs/tissues related to Seizures, Benign Familial Neonatal, 2:

41
Brain

Publications for Seizures, Benign Familial Neonatal, 2

Variations for Seizures, Benign Familial Neonatal, 2

UniProtKB/Swiss-Prot genetic disease variations for Seizures, Benign Familial Neonatal, 2:

75
# Symbol AA change Variation ID SNP ID
1 KCNQ3 p.Gly310Val VAR_001546 rs118192250
2 KCNQ3 p.Trp309Arg VAR_010935 rs118192249
3 KCNQ3 p.Asp305Gly VAR_026994 rs118192248

ClinVar genetic disease variations for Seizures, Benign Familial Neonatal, 2:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ3 NM_004519.3(KCNQ3): c.929G> T (p.Gly310Val) single nucleotide variant Pathogenic rs118192250 GRCh37 Chromosome 8, 133187704: 133187704
2 KCNQ3 NM_004519.3(KCNQ3): c.929G> T (p.Gly310Val) single nucleotide variant Pathogenic rs118192250 GRCh38 Chromosome 8, 132175457: 132175457
3 KCNQ3 NM_004519.3(KCNQ3): c.925T> C (p.Trp309Arg) single nucleotide variant Pathogenic rs118192249 GRCh37 Chromosome 8, 133187708: 133187708
4 KCNQ3 NM_004519.3(KCNQ3): c.925T> C (p.Trp309Arg) single nucleotide variant Pathogenic rs118192249 GRCh38 Chromosome 8, 132175461: 132175461
5 KCNQ3 NM_004519.3(KCNQ3): c.988C> T (p.Arg330Cys) single nucleotide variant Pathogenic/Likely pathogenic rs118192251 GRCh37 Chromosome 8, 133186542: 133186542
6 KCNQ3 NM_004519.3(KCNQ3): c.988C> T (p.Arg330Cys) single nucleotide variant Pathogenic/Likely pathogenic rs118192251 GRCh38 Chromosome 8, 132174295: 132174295
7 KCNQ3 NM_004519.3(KCNQ3): c.1994C> T (p.Ser665Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147173555 GRCh37 Chromosome 8, 133142134: 133142134
8 KCNQ3 NM_004519.3(KCNQ3): c.1994C> T (p.Ser665Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147173555 GRCh38 Chromosome 8, 132129887: 132129887
9 KCNQ3 NM_004519.3(KCNQ3): c.688C> T (p.Arg230Cys) single nucleotide variant Pathogenic/Likely pathogenic rs796052676 GRCh37 Chromosome 8, 133192493: 133192493
10 KCNQ3 NM_004519.3(KCNQ3): c.688C> T (p.Arg230Cys) single nucleotide variant Pathogenic/Likely pathogenic rs796052676 GRCh38 Chromosome 8, 132180246: 132180246
11 KCNQ3 NM_004519.3(KCNQ3): c.899T> C (p.Phe300Ser) single nucleotide variant Likely pathogenic GRCh38 Chromosome 8, 132175487: 132175487
12 KCNQ3 NM_004519.3(KCNQ3): c.899T> C (p.Phe300Ser) single nucleotide variant Likely pathogenic GRCh37 Chromosome 8, 133187734: 133187734

Expression for Seizures, Benign Familial Neonatal, 2

Search GEO for disease gene expression data for Seizures, Benign Familial Neonatal, 2.

Pathways for Seizures, Benign Familial Neonatal, 2

GO Terms for Seizures, Benign Familial Neonatal, 2

Sources for Seizures, Benign Familial Neonatal, 2

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74 UMLS via Orphanet
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