De novo Y1460C missense variant in Na V 1.1 impedes the pore region and results in epileptic encephalopathy We also checked hypermutable sites in CHRNA4. In the hypermutable sites analysis, we ...

"Our research has identified that mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy and associated intellectual and or ...

We performed genomic mapping of a family with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and intellectual and psychiatric problems, identifying a disease-associated region on ...

The first 2 epilepsy syndromes identified as channelopathies were autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), due to gene mutations in the acetylcholine nicotinic receptor ...

Clustered attacks of epileptic episodes originating from the frontal lobe during sleep are the main symptoms of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE, MIM 600513). Despite the ...

Doctors diagnosed Karen with a rare, genetic form of epilepsy, called autosomal dominant nocturnal frontal lobe epilepsy. "Every single night she was having an average of 20 seizures," said Ki ...

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 1995; 11 :201–203.

Scientists have found that a genetic nicotinic receptor mutation is associated with this condition, which is known as autosomal-dominant nocturnal frontal-lobe epilepsy. Antiepileptic drugs (AEDs ...

Two studies have identified mutations in a sodium-gated potassium channel gene, KCNT1, as a cause of two forms of early-onset epileptic disorders. ...the spectrum of epilepsies caused by mutations ...

Doctors diagnosed Karen with a rare, genetic form of epilepsy, called autosomal dominant nocturnal frontal lobe epilepsy. "Every single night she was having an average of 20 seizures," said Ki ...