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1 OMIM reference -
6 associated genes
No signs/symptoms info
COMMON GENES: 1
4 OMIM references -
4 associated genes
19 signs/symptoms
Dravet syndrome
Benign familial infantile seizures

GABRG2 KCNQ2
PCDH19 KCNQ3
SCN1A PRRT2
SCN1B SCN2A
SCN2A
SCN9A


COMMON
GENES
SCN2A



Citations in the biomedical literature:


Dravet syndrome
GABRG2 PCDH19 SCN1A SCN1B SCN2A SCN9A

Benign familial infantile seizures
KCNQ2 KCNQ3 PRRT2



Dravet syndrome
Benign familial infantile seizures

Synonym(s):
- SMEI
- Severe myoclonic epilepsy of infancy

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

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: any age
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:
1 OMIM reference -
No MeSH references
External references:
4 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


Dravet syndrome

(no data available)