ALLMedicine™ Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Center
Research & Reviews 27 results
British Journal of Pharmacology; Okada M
Mar 11th, 2021 - Autosomal dominant sleep-related hypermotor epilepsy (ADSHE; previously autosomal dominant nocturnal frontal lobe epilepsy, ADNFLE), originally reported in 1994, was the first distinct genetic epilepsy shown to be caused by CHNRA4 mutation. In the...
European Journal of Nuclear Medicine and Molecular Imaging; Garibotto V, Wissmeyer M et. al.
Oct 1st, 2018 - Mutations of cholinergic neuronal nicotinic receptors have been identified in the autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), associated with changes on PET images using [18F]-F-85380-A (F-A-85380), an α4β2 nicotinic receptor liga...
Sep 20th, 2018 - KCNT1-related epilepsy is most often associated with two phenotypes: epilepsy of infancy with migrating focal seizures (EIMFS) and autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).
Mar 15th, 2018 - Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is characterized by clusters of nocturnal motor seizures, which are often stereotyped and brief (5 seconds to 5 minutes). They vary from simple arousals from sleep to dramatic, often biza...
Neurology Mullen SA, Carney PW et. al.
Dec 3rd, 2017 - To evaluate quinidine as a precision therapy for severe epilepsy due to gain of function mutations in the potassium channel gene KCNT1. A single-center, inpatient, order-randomized, blinded, placebo-controlled, crossover trial of oral quinidine in...
Clinicaltrials.gov 1 results
Aug 31st, 2017 - Mutations in neuronal nicotinic acetylcholine receptors (nAChRs) have been identified in the autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). Despite the demonstration of a gain of function of the mutated receptors, the precise mechani...