MCID: GNR040
MIFTS: 16

Generalized Epilepsy with Febrile Seizures Plus, Type 4

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 57 13 73
Epilepsy, Generalized, with Febrile Seizures Plus, Type 4 57
Gefs+, Type 4; Gefs+4 57
Gefs+, Type 4 57
Gefsp4 57
Gefs+4 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
generalized epilepsy with febrile seizures plus, type 4:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 57 609800
MedGen 42 C1853345
SNOMED-CT via HPO 69 263681008 54200006 41497008
UMLS 73 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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures, generalized, associated with fever
generalized tonic-clonic seizures
seizures usually last less than 15 minutes
seizures usually occur less than 3 times
some patients may develop afebrile seizures later in life
more

Clinical features from OMIM:

609800

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

32
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 32 HP:0002069
2 febrile seizures 32 HP:0002373

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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