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GEFSP4
MCID: GNR040
MIFTS: 24
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Generalized Epilepsy with Febrile Seizures Plus, Type 4 (GEFSP4)
Categories:
Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Generalized Epilepsy with Febrile Seizures Plus, Type 4:
Name: Generalized Epilepsy with Febrile Seizures Plus, Type 4
56
71
Characteristics:OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
onset 6 months to 2.5 years genetic heterogeneity (see gefs+, ) see also febrile seizures (feb1, ) HPO:31
generalized epilepsy with febrile seizures plus, type 4:
Inheritance autosomal dominant inheritance heterogeneous Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases |
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Disease Ontology :
12
A generalized epilepsy with febrile seizures plus that has material basis in variation in a region on chromosome 2p24.
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 and generalized epilepsy with febrile seizures plus, type 2. An important gene associated with Generalized Epilepsy with Febrile Seizures Plus, Type 4 is GEFSP4 (Epilepsy, Generalized, With Febrile Seizures Plus, Type 4). Affiliated tissues include temporal lobe, and related phenotypes are bilateral tonic-clonic seizure and febrile seizure (within the age range of 3 months to 6 years) |
Human phenotypes related to Generalized Epilepsy with Febrile Seizures Plus, Type 4:31 (showing 2, show less)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:609800GenomeRNAi Phenotypes related to Generalized Epilepsy with Febrile Seizures Plus, Type 4 according to GeneCards Suite gene sharing:26 (showing 1, show less)
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MalaCards organs/tissues related to Generalized Epilepsy with Febrile Seizures Plus, Type 4:40
Temporal Lobe
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Articles related to Generalized Epilepsy with Febrile Seizures Plus, Type 4:(showing 6, show less)
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Genes related to Generalized Epilepsy with Febrile Seizures Plus, Type 4 (1 elite genes):(showing 8, show less) - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Generalized Epilepsy with Febrile Seizures Plus, Type 4.
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Molecular functions related to Generalized Epilepsy with Febrile Seizures Plus, Type 4 according to GeneCards Suite gene sharing:(showing 1, show less)
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