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Items: 1 to 20 of 113

1.

Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.

Oyrer J, Maljevic S, Scheffer IE, Berkovic SF, Petrou S, Reid CA.

Pharmacol Rev. 2018 Jan;70(1):142-173. doi: 10.1124/pr.117.014456. Review.

PMID:
29263209
2.

Heat induced temperature dysregulation and seizures in Dravet Syndrome/GEFS+ Gabrg2+/Q390X mice.

Warner TA, Liu Z, Macdonald RL, Kang JQ.

Epilepsy Res. 2017 Aug;134:1-8. doi: 10.1016/j.eplepsyres.2017.04.020. Epub 2017 Apr 30.

PMID:
28505490
3.

Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Wei F, Yan LM, Su T, He N, Lin ZJ, Wang J, Shi YW, Yi YH, Liao WP.

Neurosci Bull. 2017 Aug;33(4):455-477. doi: 10.1007/s12264-017-0134-1. Epub 2017 May 9. Review.

PMID:
28488083
4.

Investigations in GABAA receptor antibody-associated encephalitis.

Spatola M, Petit-Pedrol M, Simabukuro MM, Armangue T, Castro FJ, Barcelo Artigues MI, Julià Benique MR, Benson L, Gorman M, Felipe A, Caparó Oblitas RL, Rosenfeld MR, Graus F, Dalmau J.

Neurology. 2017 Mar 14;88(11):1012-1020. doi: 10.1212/WNL.0000000000003713. Epub 2017 Feb 15.

PMID:
28202703
5.

Altered Channel Conductance States and Gating of GABAA Receptors by a Pore Mutation Linked to Dravet Syndrome.

Hernandez CC, Kong W, Hu N, Zhang Y, Shen W, Jackson L, Liu X, Jiang Y, Macdonald RL.

eNeuro. 2017 Feb 10;4(1). pii: ENEURO.0251-16.2017. doi: 10.1523/ENEURO.0251-16.2017. eCollection 2017 Jan-Feb.

6.

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

Møller RS, Wuttke TV, Helbig I, Marini C, Johannesen KM, Brilstra EH, Vaher U, Borggraefe I, Talvik I, Talvik T, Kluger G, Francois LL, Lesca G, de Bellescize J, Blichfeldt S, Chatron N, Holert N, Jacobs J, Swinkels M, Betzler C, Syrbe S, Nikanorova M, Myers CT, Larsen LH, Vejzovic S, Pendziwiat M, von Spiczak S, Hopkins S, Dubbs H, Mang Y, Mukhin K, Holthausen H, van Gassen KL, Dahl HA, Tommerup N, Mefford HC, Rubboli G, Guerrini R, Lemke JR, Lerche H, Muhle H, Maljevic S.

Neurology. 2017 Jan 31;88(5):483-492. doi: 10.1212/WNL.0000000000003565. Epub 2017 Jan 4.

PMID:
28053010
7.

De novo GABRG2 mutations associated with epileptic encephalopathies.

Shen D, Hernandez CC, Shen W, Hu N, Poduri A, Shiedley B, Rotenberg A, Datta AN, Leiz S, Patzer S, Boor R, Ramsey K, Goldberg E, Helbig I, Ortiz-Gonzalez XR, Lemke JR, Marsh ED, Macdonald RL.

Brain. 2017 Jan;140(1):49-67. doi: 10.1093/brain/aww272. Epub 2016 Nov 17.

8.

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.

Ishii A, Kang JQ, Schornak CC, Hernandez CC, Shen W, Watkins JC, Macdonald RL, Hirose S.

J Med Genet. 2017 Mar;54(3):202-211. doi: 10.1136/jmedgenet-2016-104083. Epub 2016 Oct 27.

9.

Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.

Hernandez CC, Klassen TL, Jackson LG, Gurba K, Hu N, Noebels JL, Macdonald RL.

PLoS One. 2016 Sep 13;11(9):e0162883. doi: 10.1371/journal.pone.0162883. eCollection 2016. Erratum in: PLoS One. 2016 Nov 21;11(11):e0167264.

10.
11.

Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy.

Warner TA, Shen W, Huang X, Liu Z, Macdonald RL, Kang JQ.

Hum Mol Genet. 2016 Aug 1;25(15):3192-3207. doi: 10.1093/hmg/ddw168. Epub 2016 Jun 23.

12.

Mutations in GABRG2 receptor gene are not a major factor in the pathogenesis of mesial temporal lobe epilepsy in Indian population.

Dixit AB, Banerjee J, Ansari A, Tripathi M, Chandra SP.

Ann Indian Acad Neurol. 2016 Apr-Jun;19(2):236-41. doi: 10.4103/0972-2327.182304.

13.

Novel GABRG2 mutations cause familial febrile seizures.

Boillot M, Morin-Brureau M, Picard F, Weckhuysen S, Lambrecq V, Minetti C, Striano P, Zara F, Iacomino M, Ishida S, An-Gourfinkel I, Daniau M, Hardies K, Baulac M, Dulac O, Leguern E, Nabbout R, Baulac S.

Neurol Genet. 2015 Nov 4;1(4):e35. doi: 10.1212/NXG.0000000000000035. eCollection 2015 Dec.

14.

Functional and Biochemical Characterization of Alvinella pompejana Cys-Loop Receptor Homologues.

Wijckmans E, Nys M, Debaveye S, Brams M, Pardon E, Willegems K, Bertrand D, Steyaert J, Efremov R, Ulens C.

PLoS One. 2016 Mar 21;11(3):e0151183. doi: 10.1371/journal.pone.0151183. eCollection 2016.

15.

In vivo γ-aminobutyric acid measurement in rats with spectral editing at 4.7T.

Sawiak SJ, Jupp B, Taylor T, Caprioli D, Carpenter TA, Dalley JW.

J Magn Reson Imaging. 2016 Jun;43(6):1308-12. doi: 10.1002/jmri.25093. Epub 2015 Dec 3.

16.

Genetic neurological channelopathies: molecular genetics and clinical phenotypes.

Spillane J, Kullmann DM, Hanna MG.

J Neurol Neurosurg Psychiatry. 2016 Jan;87(1):37-48. doi: 10.1136/jnnp-2015-311233. Epub 2015 Nov 11. Review.

17.

Epilepsy genetics in Africa: challenges and future perspectives.

Landouré G, Maiga Y, Samassékou O, Nimaga K, Traoré M, Fischbeck KH.

North Afr Middle East Epilepsy J. 2014 Sep-Oct;3(5):5-7.

18.

Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus.

Puranam RS, He XP, Yao L, Le T, Jang W, Rehder CW, Lewis DV, McNamara JO.

J Neurosci. 2015 Jun 10;35(23):8866-81. doi: 10.1523/JNEUROSCI.3470-14.2015.

19.

Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.

Yuan H, Low CM, Moody OA, Jenkins A, Traynelis SF.

Mol Pharmacol. 2015 Jul;88(1):203-17. doi: 10.1124/mol.115.097998. Epub 2015 Apr 22. Review.

20.

Dodecyl maltopyranoside enabled purification of active human GABA type A receptors for deep and direct proteomic sequencing.

Zhang X, Miller KW.

Mol Cell Proteomics. 2015 Mar;14(3):724-38. doi: 10.1074/mcp.M114.042556. Epub 2014 Dec 3.

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