ODCs

Click node...

4 OMIM references -
2 associated genes
5 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Benign familial neonatal seizures

Jervell and Lange-Nielsen syndrome

KCNQ2	(UniProt - OMIM)		KCNE1	(UniProt - OMIM)
KCNQ3	(UniProt - OMIM)		KCNQ1	(UniProt - OMIM)


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

Citations in the biomedical literature:

Benign familial neonatal seizures		Jervell and Lange-Nielsen syndrome
	Synonym(s): - Benign familial neonatal convulsions - Benign familial neonatal 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

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

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)