Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE) Latest Advances

Novel nonsense mutation in gene CHRNA2 identified by whole-genome sequencing in infant with epilepsy disorder: A case report.

Journal: Heliyon

Published: July 18, 2024

CABP4 mutation in mice shows alteration in protein expression level and neuron discharge frequency.

Journal: Translational pediatrics

Published: September 19, 2023

A novel missense creatine mutant of CaBP4, c.464G>A (p.G155D), associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), reduces the expression of CaBP4.

Journal: Translational pediatrics

Published: January 13, 2022

Discovery of the First Orally Available, Selective KNa1.1 Inhibitor: In Vitro and In Vivo Activity of an Oxadiazole Series.

Journal: ACS medicinal chemistry letters

Published: December 23, 2020

Nicotine: A Targeted Therapy for Epilepsy Due to nAChR Gene Variants.

Journal: Journal of child neurology

Published: December 07, 2020

Can rodent models elucidate the pathomechanisms of genetic epilepsy?

Journal: British journal of pharmacology

Published: November 26, 2020

Nicotinic Receptors in Sleep-Related Hypermotor Epilepsy: Pathophysiology and Pharmacology.

Journal: Brain sciences

Published: October 13, 2020

Variants in CHRNB2 and CHRNA4 Identified in Patients with Insular Epilepsy.

Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

Published: June 16, 2020

CHRNA2 and Nocturnal Frontal Lobe Epilepsy: Identification and Characterization of a Novel Loss of Function Mutation.

Journal: Frontiers in molecular neuroscience

Published: September 05, 2018

Nicotine increases sleep spindle activity.

Journal: Journal of sleep research

Published: August 08, 2018

Nicotinic receptor abnormalities as a biomarker in idiopathic generalized epilepsy.

Journal: European journal of nuclear medicine and molecular imaging

Published: May 21, 2018

Revisiting autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) mutations in the nicotinic acetylcholine receptor reveal an increase in efficacy regardless of stochiometry.

Journal: Pharmacological research

Published: May 15, 2018

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Novel nonsense mutation in gene CHRNA2 identified by whole-genome sequencing in infant with epilepsy disorder: A case report.

Novel nonsense mutation in gene CHRNA2 identified by whole-genome sequencing in infant with epilepsy disorder: A case report.

CABP4 mutation in mice shows alteration in protein expression level and neuron discharge frequency.

CABP4 mutation in mice shows alteration in protein expression level and neuron discharge frequency.

A novel missense creatine mutant of CaBP4, c.464G>A (p.G155D), associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), reduces the expression of CaBP4.

A novel missense creatine mutant of CaBP4, c.464G>A (p.G155D), associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), reduces the expression of CaBP4.

Discovery of the First Orally Available, Selective KNa1.1 Inhibitor: In Vitro and In Vivo Activity of an Oxadiazole Series.

Discovery of the First Orally Available, Selective KNa1.1 Inhibitor: In Vitro and In Vivo Activity of an Oxadiazole Series.

Nicotine: A Targeted Therapy for Epilepsy Due to nAChR Gene Variants.

Nicotine: A Targeted Therapy for Epilepsy Due to nAChR Gene Variants.

Can rodent models elucidate the pathomechanisms of genetic epilepsy?

Can rodent models elucidate the pathomechanisms of genetic epilepsy?

Nicotinic Receptors in Sleep-Related Hypermotor Epilepsy: Pathophysiology and Pharmacology.

Nicotinic Receptors in Sleep-Related Hypermotor Epilepsy: Pathophysiology and Pharmacology.

Variants in CHRNB2 and CHRNA4 Identified in Patients with Insular Epilepsy.

Variants in CHRNB2 and CHRNA4 Identified in Patients with Insular Epilepsy.

CHRNA2 and Nocturnal Frontal Lobe Epilepsy: Identification and Characterization of a Novel Loss of Function Mutation.

CHRNA2 and Nocturnal Frontal Lobe Epilepsy: Identification and Characterization of a Novel Loss of Function Mutation.

Nicotine increases sleep spindle activity.

Nicotine increases sleep spindle activity.

Nicotinic receptor abnormalities as a biomarker in idiopathic generalized epilepsy.

Nicotinic receptor abnormalities as a biomarker in idiopathic generalized epilepsy.

Revisiting autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) mutations in the nicotinic acetylcholine receptor reveal an increase in efficacy regardless of stochiometry.

Revisiting autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) mutations in the nicotinic acetylcholine receptor reveal an increase in efficacy regardless of stochiometry.