BFNS3
MCID: SZR025
MIFTS: 13

Seizures, Benign Familial Neonatal, 3 (BFNS3)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Seizures, Benign Familial Neonatal, 3

MalaCards integrated aliases for Seizures, Benign Familial Neonatal, 3:

Name: Seizures, Benign Familial Neonatal, 3 56 29
Convulsions, Benign Familial Neonatal, 3; Bfnc3 56
Convulsions, Benign Familial Neonatal, 3 56
Seizures, Benign Neonatal, 3 56
Epilepsy, Benign Neonatal, 3 71
Bfns3 56
Bfnc3 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in first months of life
seizures usually remit spontaneously by 12 months of age
no neurologic sequelae


HPO:

31
seizures, benign familial neonatal, 3:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 56 608217
OMIM Phenotypic Series 56 PS121200
MedGen 41 C1842382
SNOMED-CT via HPO 68 263681008 54200006
UMLS 71 C1842382

Summaries for Seizures, Benign Familial Neonatal, 3

MalaCards based summary : Seizures, Benign Familial Neonatal, 3, also known as convulsions, benign familial neonatal, 3; bfnc3, is related to benign familial neonatal epilepsy. Related phenotype is generalized tonic-clonic seizures.

More information from OMIM: 608217 PS121200

Related Diseases for Seizures, Benign Familial Neonatal, 3

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

Diseases related to Seizures, Benign Familial Neonatal, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 benign familial neonatal epilepsy 11.3

Symptoms & Phenotypes for Seizures, Benign Familial Neonatal, 3

Human phenotypes related to Seizures, Benign Familial Neonatal, 3:

31
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 31 HP:0002069

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures, generalized tonic-clonic

Clinical features from OMIM:

608217

Drugs & Therapeutics for Seizures, Benign Familial Neonatal, 3

Search Clinical Trials , NIH Clinical Center for Seizures, Benign Familial Neonatal, 3

Genetic Tests for Seizures, Benign Familial Neonatal, 3

Genetic tests related to Seizures, Benign Familial Neonatal, 3:

# Genetic test Affiliating Genes
1 Seizures, Benign Familial Neonatal, 3 29

Anatomical Context for Seizures, Benign Familial Neonatal, 3

Publications for Seizures, Benign Familial Neonatal, 3

Articles related to Seizures, Benign Familial Neonatal, 3:

# Title Authors PMID Year
1
Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions. 56
11897828 2002

Variations for Seizures, Benign Familial Neonatal, 3

Expression for Seizures, Benign Familial Neonatal, 3

Search GEO for disease gene expression data for Seizures, Benign Familial Neonatal, 3.

Pathways for Seizures, Benign Familial Neonatal, 3

GO Terms for Seizures, Benign Familial Neonatal, 3

Sources for Seizures, Benign Familial Neonatal, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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