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About 58 results

ALLMedicine™ Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Center

Research & Reviews  23 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...

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...

The Phe932Ile mutation in KCNT1 channels associated with severe epilepsy, delayed myeli...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5479566
Neuroscience Evely KM, Pryce KD et. al.

Apr 4th, 2017 - Sodium-activated potassium (KNa) channels contribute to firing frequency adaptation and slow after hyperpolarization. The KCNT1 gene (also known as SLACK) encodes a KNa subunit that is expressed throughout the central and peripheral nervous system...

Mutation Linked to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Reduces Low-Sensi...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4918917
PloS One; Nichols WA, Henderson BJ et. al.

Jun 24th, 2016 - A number of mutations in α4β2-containing (α4β2*) nicotinic acetylcholine (ACh) receptors (nAChRs) are linked to autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), including one in the β2 subunit called β2V287L. Two α4β2* subtypes with di...

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