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4 OMIM references -
4 associated genes
19 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 5
1 OMIM reference -
1 associated gene
8 signs/symptoms
Benign familial infantile seizures
Infantile convulsions and choreoathetosis

KCNQ2 PRRT2
KCNQ3
PRRT2
SCN2A


COMMON
GENES
PRRT2



Citations in the biomedical literature:


Benign familial infantile seizures
KCNQ2 KCNQ3 PRRT2 SCN2A
Infantile convulsions and choreoathetosis



Benign familial infantile seizures
Infantile convulsions and choreoathetosis

Synonym(s):
- BFIE
- BFIS
- Benign familial infantile convulsions
- Benign familial infantile epilepsy

Synonym(s):
- ICCA syndrome
- Paroxysmal kinesigenic dyskinesia and infantile convulsions

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
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
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
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Autosomal dominant inheritance
- Chorea / athetosis / choreoathetosis / choreic syndrome
- Facial pain / cephalalgia / migraine
- Hyperkinesia / dyskinesia
- Seizures / epilepsy / absences / spasms / status epilepticus


Benign familial infantile seizures
Infantile convulsions and choreoathetosis

Very frequent
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of eyes and vision
- Motor deficit / trouble
- Movement disorder
- Myoclonus / fasciculations
- Obnubilation / coma / lethargia / desorientation

Frequent
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness

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


Very frequent
- EEG anomalies

Frequent
- Ataxia / incoordination / trouble of the equilibrium

Occasional
- Tics / stereotypias