Seizures, benign familial neonatal, 1

Preferred Label : Seizures, benign familial neonatal, 1;

Symbol : BFNS1;

CISMeF acronym : BFNS1;

Type : Phenotype, molecular basis known;

Included titles and symbols : Epilepsy, benign neonatal, 1, and/or myokymia; Seizures, benign familial neonatal, 1, and/or myokymia;

Description : Benign familial neonatal seizures is an autosomal dominant disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age. The disorder is distinguished from benign familial infantile seizures (BFIS1; 601764) by an earlier age at onset. 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 Neonatal Seizures See also BFNS2 (121201), which is caused by mutation in the KCNQ3 gene (602232) on chromosome 8q24, and BFNS3 (608217), which has been associated with a pericentric inversion on chromosome 5. See 269720 for a possible autosomal recessive form.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the potassium voltage-gated channel, KQT-like subfamily, member 2 gene (KCNQ2, 602235.0001);

Prefixed ID : #121200;

Details

Origin ID

121200;

UMLS CUI

C3149074;

Automatic exact mappings (from CISMeF team)
- Benign familial neonatal epilepsy [ORDO Disease]
- Epilepsy, Benign Neonatal, 1, And-Or Myokymia [MeSH concept]
- Epilepsy, Benign Neonatal, 1, And-Or Myokymia [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 2 [OMIM gene]
HPO term(s)
- Apnea during seizure spells [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Epilepsy [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Focal clonic seizure [HPO term]
- Global developmental delay [HPO term]
- Heterogeneous [HPO term]
- Increased risk of seizures in childhood or adulthood (11-16%) [HPO term]
- Motor delay [HPO term]
- Myokymia [HPO term]
- Neonatal onset [HPO term]
- Seizures, afebrile [HPO term]
ORDO concept(s)
- Benign familial neonatal epilepsy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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