Epilepsy, idiopathic generalized, susceptibility to, 17

Preferred Label : Epilepsy, idiopathic generalized, susceptibility to, 17;

Symbol : EIG17;

CISMeF acronym : FEB2;

Type : Phenotype, molecular basis known;

Included titles and symbols : Generalized epilepsy with febrile seizures plus, type 11; GEFSP11; FEB2; Febrile seizures, familial, 2; Gefs , type 11; GEFS 11; Convulsions, familial febrile, 2;

Description : For a phenotypic description of familial febrile seizures and a discussion of genetic heterogeneity of this disorder, see FEB1 (121210).;

Inheritance : Autosomal dominant;

Prefixed ID : #602477;

Details

Origin ID

602477;

UMLS CUI

C5561931;

Automatic exact mappings (from CISMeF team)
- familial febrile seizures 2 [DO Concept]
- febrile convulsions 2 [HGNC gene]
- febrile convulsions, familial, 2 [MeSH concept]
- febrile convulsions, familial, 2 [MeSH Supplementary Concept]
DO Cross reference
- familial febrile seizures 2 [DO Concept]
Genes related to phenotype
- Hyperpolarization-activated cyclic nucleotide-gated potassium channel 2 [OMIM gene]
HPO term(s)
- Atonic seizure [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Children will develop afebrile seizure disorders later in life [HPO term]
- Epilepsy [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Generalized tonic seizure [HPO term]
- Heterogeneous [HPO term]
- Hypertonic seizures [HPO term]
- Hypotonic seizures [HPO term]
- Infantile onset [HPO term]
- Onset 3 months of age up to 5 years [HPO term]
- Seizures occur in absence of intracranial infection or defined pathologic or traumatic cause [HPO term]
- Seizures usually last less than 15 minutes [HPO term]
- Seizures, generalized, associated with fever [HPO term]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- febrile convulsions, familial, 2 [MeSH Supplementary Concept]
- febrile convulsions, familial, 2 [MeSH concept]

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