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

Structural principles of distinct assemblies of the human α4β2 nicotinic receptor

(2018) Richard M. Walsh et al.   NATURE

α4β2 ∗ nicotinic receptors stimulate GABA release onto fast-spiking cells in layer V of mouse prefrontal (Fr2) cortex

(2017) Patrizia Aracri et al.   NEUROSCIENCE

Chrna2-Martinotti Cells Synchronize Layer 5 Type A Pyramidal Cells via Rebound Excitation

(2017) Markus M. Hilscher et al.   PLOS BIOLOGY

X-ray structure of the human α4β2 nicotinic receptor

(2016) Claudio L. Morales-Perez et al.   NATURE

Definition and diagnostic criteria of sleep-related hypermotor epilepsy

(2016) Paolo Tinuper et al.   NEUROLOGY

Crystal structure of a human neuronal nAChR extracellular domain in pentameric assembly: Ligand-bound α2 homopentamer

(2016) Nikolaos Kouvatsos et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function

(2015) V. Conti et al.   NEUROLOGY

Diversity of native nicotinic receptor subtypes in mammalian brain

(2015) Michele Zoli et al.   NEUROPHARMACOLOGY

Co-expression of functional human Heme Oxygenase 1, Ecto-5′-Nucleotidase and ecto-nucleoside triphosphate diphosphohydrolase-1 by “self-cleaving” 2A peptide system

(2015) Marco De Giorgi et al.   PLASMID

Agonist and antagonist effects of tobacco-related nitrosamines on human α4β2 nicotinic acetylcholine receptors

(2015) Simone Brusco et al.   Frontiers in Pharmacology

The role of nicotinic acetylcholine receptors in autosomal dominant nocturnal frontal lobe epilepsy

(2015) Andrea Becchetti et al.   Frontiers in Physiology

Nocturnal Frontal Lobe Epilepsy

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Nicotine-Modulated Subunit Stoichiometry Affects Stability and Trafficking of  3 4 Nicotinic Receptor

(2013) F. Mazzo et al.   JOURNAL OF NEUROSCIENCE

Mutations of DEPDC5 cause autosomal dominant focal epilepsies

(2013) Saeko Ishida et al.   NATURE GENETICS

Functional Characterization of a CRH Missense Mutation Identified in an ADNFLE Family

(2013) Veronica Sansoni et al.   PLoS One

Regulation of glutamate release by heteromeric nicotinic receptors in layer V of the secondary motor region (Fr2) in the dorsomedial shoulder of prefrontal cortex in mouse

(2013) Patrizia Aracri et al.   SYNAPSE

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

(2012) Sarah E Heron et al.   NATURE GENETICS

Nocturnal Frontal Lobe Epilepsy and the Acetylcholine Receptor

(2012) Luigi Ferini-Strambi et al.   NEUROLOGIST

An autoradiographic survey of mouse brain nicotinic acetylcholine receptors defined by null mutants

(2011) Christopher G. Baddick et al.   BIOCHEMICAL PHARMACOLOGY

Effect of carbamazepine and oxcarbazepine on wild-type and mutant neuronal nicotinic acetylcholine receptors linked to nocturnal frontal lobe epilepsy

(2010) Chiara Di Resta et al.   EUROPEAN JOURNAL OF PHARMACOLOGY

Tonic Modulation of GABA Release by Nicotinic Acetylcholine Receptors in Layer V of the Murine Prefrontal Cortex

(2009) Patrizia Aracri et al.   CEREBRAL CORTEX

CHRNA2 mutations are rare in the NFLE population: Evaluation of a large cohort of Italian patients

(2008) Romina Combi et al.   SLEEP MEDICINE