First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene-Reference-Cited by-同舟云学术

First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene

Published:2001-05 Issue:1 Volume:28 Page:46-48
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Baulac Stéphanie,Huberfeld Gilles,Gourfinkel-An Isabelle,Mitropoulou Georgia,Beranger Alexandre,Prud'homme Jean-François,Baulac Michel,Brice Alexis,Bruzzone Roberto,LeGuern Eric

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng0501_46.pdf

Reference21 articles.

1. Wallace, R.H. et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel β1 subunit gene SCN1B. Nature Genet. 19, 366–370 (1998).

2. Escayg, A. et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nature Genet. 24, 343–345 (2000).

3. Singh, N.A. et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nature Genet. 18, 25–29 (1998).

4. Charlier, C. et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nature Genet . 18, 53–55 (1998).

5. Steinlein, O.K. et al. A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nature Genet. 11, 201–203 (1995).

Cited by 443 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. GABA(A) Receptor Subunit (γ2, δ, β1-3) Variants in Genetic Epilepsy: A Comprehensive Summary of 206 Clinical Cases;Journal of Child Neurology;2024-09-03

2. GABRG2 mutations in genetic epilepsy with febrile seizures plus: structure, roles, and molecular genetics;Journal of Translational Medicine;2024-08-14

3. Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants;eBioMedicine;2024-08

4. GABAA receptor subunit M2-M3 linkers have asymmetric roles in pore gating and diazepam modulation;Biophysical Journal;2024-07

5. Drug-resistant epilepsy and its selected complications in children;Annales Academiae Medicae Silesiensis;2024-06-24