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About 73 results

ALLMedicine™ Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Center

Research & Reviews  27 results

Can rodent models elucidate the pathomechanisms of genetic epilepsy?
https://doi.org/10.1111/bph.15443
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...

Nicotinic receptor abnormalities as a biomarker in idiopathic generalized epilepsy.
https://doi.org/10.1007/s00259-018-4175-0
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...

KCNT1-Related Epilepsy - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/kcnt1-epilepsy/

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).

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/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...

Precision therapy for epilepsy due to KCNT1 mutations: A randomized trial of oral quini...
https://doi.org/10.1212/WNL.0000000000004769
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...

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Clinicaltrials.gov  1 results

PET Study of the Nicotinic System in Epilepsy
https://clinicaltrials.gov/ct2/show/NCT03268369

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...

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Patient Education  1 results see all →