Seizures, benign familial infantile, 1

Preferred Label : Seizures, benign familial infantile, 1;

Symbol : BFIS1;

CISMeF acronym : BFIC1; BFIS1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Convulsions, benign familial infantile, 1; BFIC1;

Description : Benign familial infantile seizures (BFIS) is a seizure disorder of early childhood with age at onset from 3 months up to 24 months. It is characterized by brief seizures beginning with slow deviation of the head and eyes to 1 side and progressing to generalized motor arrest and hypotonia, apnea and cyanosis, and limb jerks. Seizures usually occur in clusters over a day or several days. The ictal EEG shows focal parietal-temporal activity, whereas the interictal EEG is normal. Concurrent and subsequent psychomotor and neurologic development are normal (Franzoni et al., 2005). See also benign familial neonatal seizures (BFNS1; 121200). Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. - Genetic Heterogeneity of Benign Familial Infantile Seizures The BFIS1 locus has been mapped to chromosome 19q. BFIS2 (605751) is caused by mutation in the PRRT2 gene on chromosome 16p11. BFIS3 (607745), which is caused by the mutations in the SCN2A gene (182390) on chromosome 2q24, has a slightly earlier age at onset and is sometimes termed benign familial 'neonatal-infantile' seizures. BFIS4 (612627) has been mapped to chromosome 1p.;

Inheritance : Autosomal dominant;

Prefixed ID : %601764;

Details

Origin ID

601764;

UMLS CUI

C4551769;

Automatic exact mappings (from CISMeF team)
- Benign familial infantile epilepsy [ORDO Disease]
- epilepsy, benign neonatal [MeSH Descriptor]
Broader ORDO disease(s)
- Benign familial infantile epilepsy [ORDO Disease]
DO Cross reference
- benign familial infantile epilepsy [DO Concept]
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]
- Generalized-onset seizure [HPO term]
- Heterogeneous [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, generalized, afebrile [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]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Benign familial infantile epilepsy [ORDO Disease]
- Benign familial neonatal convulsions [MedDRA Preferred Term]
- Benign familial neonatal-infantile seizures [ORDO Disease]
- Benign neonatal familial convulsions (disorder) [SNOMED CT concept]
- Familial neonatal seizures (disorder) [SNOMED CT concept]
- benign familial neonatal epilepsy [DO Concept]
Validated automatic mappings to NTBT
- benign familial infantile epilepsy [DO Concept]

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