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

Data up to Jan 2025

Published2003
Citations59
References16

Total Citations Per Year

Abstract

References (16)

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

1995 • 1,112 citations

Acetylcholine receptor channel imaged in the open state

1995 • 1,002 citations

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

2000 • 441 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

Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder

1994 • 310 citations

Modulation of High‐Voltage–Activated Calcium Channels in Dentate Granule Cells by Topiramate

2000 • 271 citations

A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy

1999 • 189 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

A de novo mutation in sporadic nocturnal frontal lobe epilepsy

2000 • 124 citations

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

1999 • 84 citations

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

2000 • 83 citations

Refinement of the Localization of the Gene for Neuronal Nicotinic Acetylcholine Receptor α4 Subunit (CHRNA4) to Human Chromosome 20q13.2-q13.3

1994 • 76 citations

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

2000 • 69 citations

Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor α4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes

2002 • 53 citations

Exon–Intron Structure of the Human Neuronal Nicotinic Acetylcholine Receptor α4 Subunit (CHRNA4)

1996 • 52 citations

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Evidence for S284L Mutation of the CHRNA4 in a White Family with Autosomal Dominant… (2003) – Epilepsia | Metascience Observatory Explorer