BFIS4
MCID: SZR011
MIFTS: 12

Seizures, Benign Familial Infantile, 4 (BFIS4)

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Seizures, Benign Familial Infantile, 4

MalaCards integrated aliases for Seizures, Benign Familial Infantile, 4:

Name: Seizures, Benign Familial Infantile, 4 57 13
Convulsions, Benign Familial Infantile, 4 57 70
Convulsions, Benign Familial Infantile, 4; Bfic4 57
Bfis4 57
Bfic4 57

Classifications:



External Ids:

OMIM® 57 612627
OMIM Phenotypic Series 57 PS601764
UMLS 70 C2675462

Summaries for Seizures, Benign Familial Infantile, 4

MalaCards based summary : Seizures, Benign Familial Infantile, 4, is also known as convulsions, benign familial infantile, 4. An important gene associated with Seizures, Benign Familial Infantile, 4 is BFIS4 (Convulsions, Benign Familial Infantile, 4). Affiliated tissues include eye.

More information from OMIM: 612627 PS601764

Related Diseases for Seizures, Benign Familial Infantile, 4

Symptoms & Phenotypes for Seizures, Benign Familial Infantile, 4

Clinical features from OMIM®:

612627 (Updated 20-May-2021)

Drugs & Therapeutics for Seizures, Benign Familial Infantile, 4

Search Clinical Trials , NIH Clinical Center for Seizures, Benign Familial Infantile, 4

Genetic Tests for Seizures, Benign Familial Infantile, 4

Anatomical Context for Seizures, Benign Familial Infantile, 4

MalaCards organs/tissues related to Seizures, Benign Familial Infantile, 4:

40
Eye

Publications for Seizures, Benign Familial Infantile, 4

Articles related to Seizures, Benign Familial Infantile, 4:

(showing 2, show less)
# Title Authors PMID Year
1
A novel genetic locus for benign familial infantile seizures maps to chromosome 1p36.12-p35.1. 57
18811698 2008
2
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. 61
22399141 2012

Variations for Seizures, Benign Familial Infantile, 4

Expression for Seizures, Benign Familial Infantile, 4

Search GEO for disease gene expression data for Seizures, Benign Familial Infantile, 4.

Pathways for Seizures, Benign Familial Infantile, 4

GO Terms for Seizures, Benign Familial Infantile, 4

Sources for Seizures, Benign Familial Infantile, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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