GEFSP4
MCID: GNR040
MIFTS: 16

Generalized Epilepsy with Febrile Seizures Plus, Type 4 (GEFSP4)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Generalized Epilepsy with Febrile Seizures Plus, Type 4

MalaCards integrated aliases for Generalized Epilepsy with Febrile Seizures Plus, Type 4:

Name: Generalized Epilepsy with Febrile Seizures Plus, Type 4 58 74
Epilepsy, Generalized, with Febrile Seizures Plus, Type 4 58 13
Gefs+, Type 4; Gefs+4 58
Gefs+, Type 4 58
Gefsp4 58
Gefs+4 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset 6 months to 2.5 years
genetic heterogeneity (see gefs+, )
see also febrile seizures (feb1, )


HPO:

33
generalized epilepsy with febrile seizures plus, type 4:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 609800
MedGen 43 C1853345
SNOMED-CT via HPO 70 263681008 41497008 54200006
UMLS 74 C1853345

Summaries for Generalized Epilepsy with Febrile Seizures Plus, Type 4

MalaCards based summary : Generalized Epilepsy with Febrile Seizures Plus, Type 4, also known as epilepsy, generalized, with febrile seizures plus, type 4, is related to generalized epilepsy with febrile seizures plus. An important gene associated with Generalized Epilepsy with Febrile Seizures Plus, Type 4 is GEFSP4 (Epilepsy, Generalized, With Febrile Seizures Plus, Type 4). Related phenotypes are generalized tonic-clonic seizures and febrile seizures

Description from OMIM: 609800

Related Diseases for Generalized Epilepsy with Febrile Seizures Plus, Type 4

Symptoms & Phenotypes for Generalized Epilepsy with Febrile Seizures Plus, Type 4

Human phenotypes related to Generalized Epilepsy with Febrile Seizures Plus, Type 4:

33
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 33 HP:0002069
2 febrile seizures 33 HP:0002373

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
generalized tonic-clonic seizures
seizures, generalized, associated with fever
seizures usually last less than 15 minutes
patients show normal psychomotor development
seizures usually occur less than 3 times
more

Clinical features from OMIM:

609800

Drugs & Therapeutics for Generalized Epilepsy with Febrile Seizures Plus, Type 4

Search Clinical Trials , NIH Clinical Center for Generalized Epilepsy with Febrile Seizures Plus, Type 4

Genetic Tests for Generalized Epilepsy with Febrile Seizures Plus, Type 4

Anatomical Context for Generalized Epilepsy with Febrile Seizures Plus, Type 4

Publications for Generalized Epilepsy with Febrile Seizures Plus, Type 4

Variations for Generalized Epilepsy with Febrile Seizures Plus, Type 4

Expression for Generalized Epilepsy with Febrile Seizures Plus, Type 4

Search GEO for disease gene expression data for Generalized Epilepsy with Febrile Seizures Plus, Type 4.

Pathways for Generalized Epilepsy with Febrile Seizures Plus, Type 4

GO Terms for Generalized Epilepsy with Febrile Seizures Plus, Type 4

Sources for Generalized Epilepsy with Febrile Seizures Plus, Type 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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