The role of the nicotinic acetylcholine receptors in sleep-related epilepsy

A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

1995 • 1,112 citations

Epileptic Syndromes in Infancy, Childhood and Adolescence

2005 • 948 citations

Neuronal nicotinic receptors: from structure to pathology

2004 • 941 citations

Epileptic Syndromes in Infancy, Childhood and Adolescence

2004 • 718 citations

Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features

2002 • 598 citations

Nocturnal frontal lobe epilepsy: A clinical and polygraphic overview of 100 consecutive cases

1999 • 509 citations

Autosomal dominant nocturnal frontal lobe epilepsy

1995 • 498 citations

Pentameric structure and subunit stoichiometry of a neuronal nicotinic acetylcholine receptor

1991 • 463 citations

Nicotinic receptors in the brain: correlating physiology with function

1999 • 450 citations

The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy

2000 • 441 citations

Human neuronal nicotinic receptors

1997 • 418 citations

An Insertion Mutation of the CHRNA4 Gene in a Family With Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

1997 • 357 citations

CHRNB2 Is the Second Acetylcholine Receptor Subunit Associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy*

2001 • 317 citations

Nicotinic and muscarinic subtypes in the human brain: Changes with aging and dementia

1992 • 269 citations

Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations

2006 • 268 citations

Autosomal dominant nocturnal frontal lobe epilepsy. A video- polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome

1998 • 253 citations

Nicotinic Receptor Activation in Human Cerebral Cortical Interneurons: a Mechanism for Inhibition and Disinhibition of Neuronal Networks

2000 • 251 citations

Increased Sensitivity of the Neuronal Nicotinic Receptor α2 Subunit Causes Familial Epilepsy with Nocturnal Wandering and Ictal Fear

2006 • 241 citations

Autosomal dominant nocturnal frontal lobe epilepsy

2004 • 237 citations

Mutation Causing Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Alters Ca²⁺Permeability, Conductance, and Gating of Human α4β2 Nicotinic Acetylcholine Receptors

1997 • 235 citations

Nocturnal Hypermotor Seizures, Suggesting Frontal Lobe Epilepsy, Can Originate in the Insula

2006 • 229 citations

Distinguishing Sleep Disorders From Seizures

2006 • 214 citations

Autosomal Dominant Nocturnal Frontal-Lobe Epilepsy: Genetic Heterogeneity and Evidence for a Second Locus at 15q24

1998 • 214 citations

Seizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy

2006 • 195 citations

Channelopathies as a genetic cause of epilepsy

2003 • 182 citations

Movement disorders in sleep: Guidelines for differentiating epileptic from non-epileptic motor phenomena arising from sleep

2007 • 179 citations

Channelopathies as a genetic cause of epilepsy

2003 • 175 citations

Nocturnal Paroxysmal Dystonia with Short‐Lasting Attacks: Three Cases with Evidence for an Epileptic Frontal Lobe Origin of Seizures

1990 • 174 citations

How Mutations in the nAChRs Can Cause ADNFLE Epilepsy

2002 • 172 citations

Alteration of the in vivo nicotinic receptor density in ADNFLE patients: a PET study

2006 • 165 citations

An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics

1996 • 155 citations

Distribution of Nicotinic Receptors in the Human Hippocampus and Thalamus

1994 • 136 citations

Mutated Nicotinic Receptors Responsible for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy are More Sensitive to Carbamazepine

1999 • 133 citations

Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy

1998 • 128 citations

Sleep-related hyperkinetic seizures of temporal lobe origin

2004 • 126 citations

A de novo mutation in sporadic nocturnal frontal lobe epilepsy

2000 • 124 citations

The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits

2005 • 101 citations

A single residue in the M2-M3 loop is a major determinant of coupling between binding and gating in neuronal nicotinic receptors.

1996 • 96 citations

Autosomal dominant nocturnal frontal lobe epilepsy: Demonstration of focal frontal onset and intrafamilial variation

1997 • 92 citations

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy in a Spanish Family With a Ser252Phe Mutation in the CHRNA4 Gene

1999 • 84 citations

A Korean Kindred With Autosomal Dominant Nocturnal Frontal Lobe Epilepsy and Mental Retardation

2003 • 84 citations

Independent Occurrence of the CHRNA4 Ser248Phe Mutation in a Norwegian Family with Nocturnal Frontal Lobe Epilepsy

2000 • 83 citations

Five ADNFLE Mutations Reduce the Ca²⁺ Dependence of the Mammalian α4β2 Acetylcholine Response

2003 • 82 citations

A New Chrna4 Mutation with Low Penetrance in Nocturnal Frontal Lobe Epilepsy

2003 • 80 citations

[3H](-)nicotine binding sites in fetal human brain

1988 • 78 citations

Ion channel variation causes epilepsies

2001 • 77 citations

Nicotine as an Antiepileptic Agent in ADNFLE: An N‐of‐One Study

2003 • 75 citations

Clinical studies in Alzheimer patients with positron emission tomography

1993 • 69 citations

Electroclinical Picture of Autosomal Dominant Nocturnal Frontal Lobe Epilepsy in a Japanese Family

2000 • 69 citations

Phenotypic Comparison of Two Scottish Families with Mutations in Different Genes Causing Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

2003 • 67 citations

The role of the cholinergic system in the development of the human cerebellum

1995 • 66 citations

Heterogeneity of nicotine actions in the rat cerebellum: an in vivo electrophysiologic study.

1987 • 60 citations

Evidence for S284L Mutation of the CHRNA4 in a White Family with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

2003 • 59 citations

Tobacco habits modulate autosomal dominant nocturnal frontal lobe epilepsy

2006 • 58 citations

Schizophrenia, psychotic illness and other psychiatric symptoms in families with autosomal dominant nocturnal frontal lobe epilepsy caused by different mutations

2003 • 55 citations

Hyperperfusion of anterior cingulate gyrus in a case of paroxysmal nocturnal dystonia

2001 • 42 citations

Further evidence of genetic heterogeneity in families with autosomal dominant nocturnal frontal lobe epilepsy

2007 • 33 citations

Pavor Nocturnus of Proven Epileptic Origin

2000 • 32 citations

Two new putative susceptibility loci for ADNFLE

2005 • 24 citations