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4 OMIM references -
2 associated genes
5 signs/symptoms
PROTEIN INTERACTIONS: 2
5 OMIM references -
4 associated genes
3 signs/symptoms
Benign familial neonatal seizures
Catecholaminergic polymorphic ventricular tachycardia

KCNQ2 CALM1
KCNQ3 CASQ2
RYR2
TRDN


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KCNQ2
KCNQ3
(0.84)
(0.84)
CALM1
CALM1



Citations in the biomedical literature:


Benign familial neonatal seizures
KCNQ2 KCNQ3
Catecholaminergic polymorphic ventricular tachycardia
CALM1 CASQ2 RYR2 TRDN



Benign familial neonatal seizures
Catecholaminergic polymorphic ventricular tachycardia

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

Synonym(s):
- Bidirectional tachycardia
- Bidirectional tachycardia induced by catecholamine
- CPVT
- Double tachycardia induced by catecholamines
- Malignant paroxysmal ventricular tachycardia
- Multifocal ventricular premature beats
- Paroxysmal ventricular fibrillation
- Syncopal paroxysmal tachycardia
- Syncopal tachyarythmia

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

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: childhood
Average age of death: any age
Type of inheritance: autosomal dominant

External references:
4 OMIM references -
2 MeSH references: C535466 / D020936
External references:
5 OMIM references -
No MeSH references

Benign familial neonatal seizures
Catecholaminergic polymorphic ventricular tachycardia

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


Very frequent
- Cardiac rhythm disorder / arrhythmia

Frequent
- Dizziness

Occasional
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest