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3 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
2 associated genes
5 signs/symptoms
Familial short QT syndrome
Benign familial neonatal seizures

CACNA2D1 KCNQ2
KCNH2 KCNQ3
KCNJ2
KCNQ1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Familial short QT syndrome
CACNA2D1 KCNH2 KCNJ2 KCNQ1
Benign familial neonatal seizures
KCNQ2 KCNQ3



Familial short QT syndrome
Benign familial neonatal seizures

Synonym(s):
- SQTS

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

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
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:
3 OMIM references -
No MeSH references
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


Familial short QT syndrome

(no data available)