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4 OMIM references -
4 associated genes
19 signs/symptoms
COMMON GENES: 1
2 OMIM references -
1 associated gene
No signs/symptoms info
Benign familial infantile seizures
Paroxysmal kinesigenic dyskinesia

KCNQ2 PRRT2
KCNQ3
PRRT2
SCN2A


COMMON
GENES
PRRT2



Citations in the biomedical literature:


Benign familial infantile seizures
KCNQ2 KCNQ3 PRRT2 SCN2A
Paroxysmal kinesigenic dyskinesia



Benign familial infantile seizures
Paroxysmal kinesigenic dyskinesia

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

Synonym(s):
- Familial PKD
- Familial paroxysmal kinesigenic dyskinesia
- Paroxysmal kinesigenic choreathetosis

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: 1-9 / 1 000 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
4 OMIM references -
No MeSH references
External references:
2 OMIM references -
No MeSH references

Benign familial infantile seizures

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


Paroxysmal kinesigenic dyskinesia

(no data available)