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autosomal dominant nocturnal frontal lobe epilepsy 5

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Mondo Description Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene.
Uniprot Description An autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of nocturnal frontal lobe epilepsy.
Disease Ontology Description An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34.
Mondo Term and Equivalent IDs
MONDO:0014002:  autosomal dominant nocturnal frontal lobe epilepsy 5
UMLS:C3554306: