Seizures, benign familial infantile, 2

Preferred Label : Seizures, benign familial infantile, 2;

Symbol : BFIS2;

CISMeF acronym : BFIC2; BFIS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Convulsions, benign familial infantile, 2; BFIC2;

Description : Benign familial infantile seizure is an autosomal dominant disorder characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. Seizures usually remit by age 18 months (summary by Weber et al., 2004). For a phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (601764). Benign familial infantile seizures can also occur in 2 allelic disorders: infantile convulsions and choreoathetosis (ICCA; 602066) and paroxysmal kinesigenic choreoathetosis (EKD1; 128200).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the proline-rich transmembrane protein 2 gene (PRRT2, 614386.0001);

Prefixed ID : #605751;

Details

Origin ID

605751;

UMLS CUI

C1853995;

Automatic exact mappings (from CISMeF team)
- Benign familial infantile epilepsy [ORDO Disease]
- convulsions, benign familial infantile, 2 [MeSH Supplementary Concept]
- convulsions, benign familial infantile, 2 [MeSH concept]
Broader ORDO disease(s)
- Benign familial infantile epilepsy [ORDO Disease]
DO Cross reference
- benign familial infantile epilepsy [DO Concept]
Genes related to phenotype
- Proline-rich transmembrane protein 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Focal seizures, afebril [HPO term]
- Focal-onset seizure [HPO term]
- Generalized-onset seizure [HPO term]
- Incomplete penetrance [HPO term]
- Migraine [HPO term]
- Secondary generalization may occur [HPO term]
- Seizures occur in clusters [HPO term]
- Seizures, generalized, afebrile [HPO term]
- Seizures, partial, afebrile [HPO term]
Not associated HPO term(s)
- Neurodevelopmental abnormality [HPO term]
ORDO concept(s)
- Benign familial infantile epilepsy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- convulsions, benign familial infantile, 2 [MeSH Supplementary Concept]
- convulsions, benign familial infantile, 2 [MeSH concept]
Validated automatic mappings to NTBT
- benign familial infantile epilepsy [DO Concept]

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