ODCs

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4 OMIM references -
4 associated genes
19 signs/symptoms

PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
No signs/symptoms info

Benign familial infantile seizures

Jervell and Lange-Nielsen syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KCNQ2	(0.72)	KCNQ1

Citations in the biomedical literature:

Benign familial infantile seizures		Jervell and Lange-Nielsen syndrome
	Synonym(s): - BFIE - BFIS - Benign familial infantile convulsions - Benign familial infantile epilepsy		Synonym(s): - Long QT interval - deafness

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the circulatory 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: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 4 OMIM references - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: D029593

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
Jervell and Lange-Nielsen syndrome
(no data available)