Seizures, benign familial infantile, 3

Preferred Label : Seizures, benign familial infantile, 3;

Symbol : BFIS3;

CISMeF acronym : BFIC3; BFIS3; BFNIS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Seizures, benign familial neonatal-infantile; Convulsions, benign familial infantile, 3; BFNIS; BFIC3;

Description : Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae (Shevell et al., 1986). See also benign familial infantile seizures (BFIS1; 601764), which has a slightly later onset, and benign neonatal seizures (see BFNS1; 121200), which has a slightly earlier onset. See also early infantile epileptic encephalopathy-11 (613721), a more severe disorder that also results from mutations in the SCN2A gene.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha-1-subunit of the voltage-gated type II sodium channel gene (SCN2A, 182390.0001);

Prefixed ID : #607745;

Details

Origin ID

607745;

UMLS CUI

C1843140;

Automatic exact mappings (from CISMeF team)
- Benign familial infantile epilepsy [ORDO Disease]
- Benign familial neonatal-infantile seizures [ORDO Disease]
- SCN2A wt Allele [NCIt concept]
- convulsions, benign familial infantile, 3 [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
- Sodium voltage-gated channel, alpha subunit 2 [OMIM gene]
HPO term(s)
- Apnea [HPO term]
- Apnea during seizure spells [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure with focal onset [HPO term]
- Cerebrovascular accident [HPO term]
- Cyanosis [HPO term]
- Focal impaired awareness seizure [HPO term]
- Focal seizures, afebril [HPO term]
- Focal-onset seizure [HPO term]
- Normal interictal EEG [HPO term]
- Secondary generalized tonic-clonic seizures [HPO term]
- Seizures occur in clusters over 1 or several days [HPO term]
- Seizures often begin with head and eye deviation [HPO term]
- Seizures, partial, afebrile [HPO term]
- Staring episodes during seizures [HPO term]
Not associated HPO term(s)
- Neurodevelopmental abnormality [HPO term]
ORDO concept(s)
- Benign familial infantile epilepsy [ORDO Disease]
- Benign familial neonatal-infantile seizures [ORDO Disease]
See also inter- (CISMeF)
- Benign familial neonatal-infantile seizures (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- convulsions, benign familial infantile, 3 [MeSH concept]
Validated automatic mappings to NTBT
- benign familial infantile epilepsy [DO Concept]
- epilepsy, benign neonatal [MeSH Descriptor]

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