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Benign familial infantile seizures
4 OMIM references -
4 associated genes
19 connected diseases
19 signs/symptoms
Disease Type of connection
Benign familial neonatal seizures
Benign familial neonatal-infantile seizures
Early infantile epileptic encephalopathy
Juvenile myoclonic epilepsy
Dravet syndrome
Familial or sporadic hemiplegic migraine
Generalized epilepsy with febrile seizures-plus context
Infantile convulsions and choreoathetosis
Paroxysmal exertion-induced dyskinesia
Paroxysmal kinesigenic dyskinesia
Paroxysmal non-kinesigenic dyskinesia
West syndrome
Catecholaminergic polymorphic ventricular tachycardia
Romano-Ward syndrome
Intellectual deficiency - hypotonia - spasticity - sleep disorder
Familial atrial fibrillation
Familial short QT syndrome
Jervell and Lange-Nielsen syndrome
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Synonym(s):
- BFIE
- BFIS
- Benign familial infantile convulsions
- Benign familial infantile epilepsy
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
4 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
KCNQ2 O43526602235
KCNQ3 O43525602232
PRRT2 Q7Z6L0614386
SCN2A Q99250182390
Very frequent
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of eyes and vision
- Autosomal dominant inheritance
- Motor deficit / trouble
- Movement disorder
- Myoclonus / fasciculations
- Obnubilation / coma / lethargia / desorientation
- Seizures / epilepsy / absences / spasms / status epilepticus

Frequent
- Chorea / athetosis / choreoathetosis / choreic syndrome
- Hyperkinesia / dyskinesia
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness

Occasional
- Asthenia / fatigue / weakness
- Delirium / hallucination
- Facial pain / cephalalgia / migraine
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Troubles of memory / amnesia / hypermnesia