Seizures, benign familial neonatal, 2

Preferred Label : Seizures, benign familial neonatal, 2;

Symbol : BFNS2;

CISMeF acronym : BFNC2; BFNS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Convulsions, benign familial neonatal, 2; BFNC2;

Description : Benign familial neonatal seizures-2 is an autosomal dominant neurologic condition characterized by onset of clonic or tonic-clonic seizures in the first few days of life. Seizures tend to last for about a minute, may occur several times a day, and are responsive to medication. Almost all patients have full remission within the first months of life, although some rare patients may have a few seizures later in childhood. EEG, brain imaging, and psychomotor development are usually normal (summary by Fister et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of benign familial neonatal seizures, see BFNS1 (121200).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the potassium voltage-gated channel, KQT-like subfamily, member 3 gene (KCNQ3, 602232.0001);

Prefixed ID : #121201;

Details

Origin ID

121201;

UMLS CUI

C1852581;

Automatic exact mappings (from CISMeF team)
- Benign familial neonatal epilepsy [ORDO Disease]
- convulsions benign familial neonatal dominant form [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Benign familial neonatal epilepsy [ORDO Disease]
DO Cross reference
- benign neonatal seizures [DO Concept]
Genes related to phenotype
- Potassium channel, voltage-gated, kqt-like subfamily, member 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Epilepsy [HPO term]
- Focal clonic seizure [HPO term]
- Increased risk of seizures in childhood or adulthood (11-16%) [HPO term]
- Seizures, afebrile [HPO term]
Not associated HPO term(s)
- Global developmental delay [HPO term]
ORDO concept(s)
- Benign familial neonatal epilepsy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- convulsions benign familial neonatal dominant form [MeSH Supplementary Concept]
- convulsions benign familial neonatal dominant form [MeSH concept]

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