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Last Updated: 10/31/2025

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Found 206 publications

Novel Gain of Function Mouse Model of KCNT1-Related Epilepsy.

Novel Gain of Function Mouse Model of KCNT1-Related Epilepsy.

Journal: bioRxiv : the preprint server for biology
Published: August 08, 2025

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.

Journal: Heliyon
Published: July 18, 2024

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.

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.

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.

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.

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?

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.

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.

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.

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.

Nicotine increases sleep spindle activity.

Journal: Journal of sleep research
Published: August 08, 2018

Nicotinic receptor abnormalities as a biomarker in idiopathic generalized epilepsy.

Nicotinic receptor abnormalities as a biomarker in idiopathic generalized epilepsy.

Journal: European journal of nuclear medicine and molecular imaging
Published: May 21, 2018
Showing 1-12 of 206

Last Updated: 10/31/2025