An Insertion Mutation of the CHRNA4 Gene in a Family With Autosomal Dominant Nocturnal Frontal Lobe Epilepsy-Reference-Cited by-同舟云学术

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

Published:1997-06-01 Issue:6 Volume:6 Page:943-947
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Steinlein Ortrud K.,Magnusson Andres,Stoodt Jens,Bertrand Sonia,Weiland Sigrid,Berkovic Samuel F.,Nakken Karl O.,Propping Peter,Bertrand Daniel

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/6/6/943/19490353/6-6-943.pdf

Reference27 articles.

1. Autosomal dominant nocturnal frontal lobe epilepsy misdiagnosed as sleep disorder;Lancet,1994

2. Autosomal dominant nocturnal frontal epilepsy: a distinctive clinical disorder;Brain,1995

3. Autosomal dominant nocturnal frontal lobe epilepsy: Electroclinical picture;Epilepsia,1996

4. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2;Nature Genet.,1995

5. A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy;Nature Genet.,1995

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1. Clinical, molecular, physiologic, and therapeutic feature of patients with CHRNA4 and CHRNB2 deficiency: A systematic review;Journal of Neurochemistry;2024-08-28

2. Pathogenic residue insertion in neuronal nicotinic receptor alters intra- and inter-subunit interactions that tune channel gating;Journal of Biological Chemistry;2024-05

3. Channelopathies in epilepsy: an overview of clinical presentations, pathogenic mechanisms, and therapeutic insights;Journal of Neurology;2024-04-12

4. Age-Dependent Activation of Purinergic Transmission Contributes to the Development of Epileptogenesis in ADSHE Model Rats;Biomolecules;2024-02-08

5. Nicotinic Acetylcholine Receptor Dysfunction in Addiction and in Some Neurodegenerative and Neuropsychiatric Diseases;Cells;2023-08-11

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