Generalized epilepsy with febrile seizures plus, type 2

Preferred Label : Generalized epilepsy with febrile seizures plus, type 2;

Symbol : GEFSP2;

CISMeF acronym : FEB3A; GEFSP2; GEFS 2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gefs , type 2; GEFS 2;

Included titles and symbols : Febrile seizures, familial, 3a; FEB3A;

Description : Mutations in the SCN1A gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures to generalized epilepsy with febrile seizures plus, type 2, which represents a more severe phenotype. Patients with isolated febrile seizures usually have onset between ages 6 months and 4 years and show spontaneous remission by age 6 years (summary by Mantegazza et al., 2005), whereas patients with GEFS continue to have various types of febrile and afebrile seizures later in life (summary by Singh et al., 2009). Dravet syndrome (607208), or severe myoclonic epilepsy of infancy, is the most severe phenotype associated with SCN1A mutations. Mutations in certain genes can cause a phenotypic spectrum of overlap between the isolated febrile phenotype and the GEFS phenotype. For a general phenotypic description and a discussion of genetic heterogeneity of GEFS , see 604233. For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see 121210.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the voltage-gated sodium channel type I, alpha polypeptide gene (SCN1A, 182389.0001);

Prefixed ID : #604403;

Details

Origin ID

604403;

UMLS CUI

C1858673;

Automatic exact mappings (from CISMeF team)
- Febrile Seizures, Familial, 3A [NCIt concept]
- SCN1A wt Allele [NCIt concept]
- febrile convulsions, familial, 3a [MeSH Supplementary Concept]
- generalized epilepsy with febrile seizures plus 2 [DO Concept]
- sodium voltage-gated channel alpha subunit 1 [ORDO Gene]
- sodium voltage-gated channel alpha subunit 1 [HGNC gene]
Currated CISMeF NLP mapping
- generalized epilepsy with febrile seizures plus, type 2 [MeSH concept]
- generalized epilepsy with febrile seizures plus, type 2 [MeSH Supplementary Concept]
DO Cross reference
- generalized epilepsy with febrile seizures plus 2 [DO Concept]
Genes related to phenotype
- Sodium voltage-gated channel, alpha subunit 1 [OMIM gene]
HPO term(s)
- Atonic seizure [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Childhood onset [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]
- Focal hemiclonic seizure [HPO term]
- Focal-onset seizure [HPO term]
- Generalized myoclonic seizure [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Generalized tonic seizure [HPO term]
- Hypertonic seizures [HPO term]
- Hypotonic seizures [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]
- Variable expressivity [HPO term]
ORDO concept(s)
- Generalized epilepsy with febrile seizures-plus [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- generalized epilepsy with febrile seizures plus, type 2 [MeSH Supplementary Concept]
- generalized epilepsy with febrile seizures plus, type 2 [MeSH concept]
Validated automatic mappings to NTBT
- Generalized epilepsy with febrile seizures-plus [ORDO Disease]

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