FFEVF4
MCID: EPL220
MIFTS: 22
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Epilepsy, Familial Focal, with Variable Foci 4 (FFEVF4)
Categories:
Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Epilepsy, Familial Focal, with Variable Foci 4:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
onset in first years of life seizures may remit later in childhood seizures are controlled by medication HPO:32Classifications: |
UniProtKB/Swiss-Prot
:
74
Epilepsy, familial focal, with variable foci 4: An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy, frontal lobe epilepsy, and nocturnal frontal lobe epilepsy. Some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. A subset of patients have structural brain abnormalities. Penetrance of the disorder is incomplete. FFEVF4 is characterized by onset of focal seizures in the first years of life.
MalaCards based summary : Epilepsy, Familial Focal, with Variable Foci 4, is also known as ffevf4. An important gene associated with Epilepsy, Familial Focal, with Variable Foci 4 is SCN3A (Sodium Voltage-Gated Channel Alpha Subunit 3). Affiliated tissues include brain, temporal lobe and occipital lobe, and related phenotypes are global developmental delay and delayed speech and language development OMIM : 57 FFEVF4 is an autosomal dominant seizure disorder characterized by onset of focal seizures in the first years of life. Some patients may have secondary generalization and/or mild developmental deficits (summary by Vanoye et al., 2014). For a discussion of genetic heterogeneity of FFEVF, see FFEVF1 (604364). (617935) |
Diseases in the Epilepsy, Familial Focal, with Variable Foci 1 family:
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Human phenotypes related to Epilepsy, Familial Focal, with Variable Foci 4:32
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617935 |
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MalaCards organs/tissues related to Epilepsy, Familial Focal, with Variable Foci 4:41
Brain,
Temporal Lobe,
Occipital Lobe
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Articles related to Epilepsy, Familial Focal, with Variable Foci 4:
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ClinVar genetic disease variations for Epilepsy, Familial Focal, with Variable Foci 4:6
UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Familial Focal, with Variable Foci 4:74
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Search
GEO
for disease gene expression data for Epilepsy, Familial Focal, with Variable Foci 4.
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