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Benign familial neonatal seizures
4 OMIM references -
2 associated genes
10 connected diseases
5 signs/symptoms
Disease Type of connection
Benign familial infantile seizures
Benign familial neonatal-infantile seizures
Early infantile epileptic encephalopathy
Juvenile myoclonic epilepsy
Catecholaminergic polymorphic ventricular tachycardia
Familial atrial fibrillation
Familial short QT syndrome
Jervell and Lange-Nielsen syndrome
Romano-Ward syndrome
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Synonym(s):
- Benign familial neonatal convulsions
- Benign familial neonatal epilepsy
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
4 OMIM references -
2 MeSH references: C535466 / D020936
Gene symbol UniProt reference OMIM reference
KCNQ2 O43526602235
KCNQ3 O43525602232
Very frequent
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Hypertonia / spasticity / rigidity / stiffness
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Intellectual deficit / mental / psychomotor retardation / learning disability