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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
2 associated genes
5 signs/symptoms
Jervell and Lange-Nielsen syndrome
Benign familial neonatal seizures

KCNE1 KCNQ2
KCNQ1 KCNQ3


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Jervell and Lange-Nielsen syndrome
KCNE1 KCNQ1
Benign familial neonatal seizures
KCNQ2 KCNQ3



Jervell and Lange-Nielsen syndrome
Benign familial neonatal seizures

Synonym(s):
- Long QT interval - deafness

Synonym(s):
- Benign familial neonatal convulsions
- Benign familial neonatal epilepsy

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

Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
1 MeSH reference: D029593
External references:
4 OMIM references -
2 MeSH references: C535466 / D020936

Benign familial neonatal seizures

Very frequent
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Hypertonia / spasticity / rigidity / stiffness
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Intellectual deficit / mental / psychomotor retardation / learning disability


Jervell and Lange-Nielsen syndrome

(no data available)