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Items: 1 to 20 of 120

1.

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.

2.

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.

3.

Loss of synaptic Zn2+ transporter function increases risk of febrile seizures.

Hildebrand MS, Phillips AM, Mullen SA, Adlard PA, Hardies K, Damiano JA, Wimmer V, Bellows ST, McMahon JM, Burgess R, Hendrickx R, Weckhuysen S, Suls A, De Jonghe P, Scheffer IE, Petrou S, Berkovic SF, Reid CA.

Sci Rep. 2015 Dec 9;5:17816. doi: 10.1038/srep17816.

4.

Early postnatal switch in GABAA receptor α-subunits in the reticular thalamic nucleus.

Pangratz-Fuehrer S, Sieghart W, Rudolph U, Parada I, Huguenard JR.

J Neurophysiol. 2016 Mar;115(3):1183-95. doi: 10.1152/jn.00905.2015. Epub 2015 Dec 2.

PMID:
26631150
5.

Dysgraphia as a Mild Expression of Dystonia in Children with Absence Epilepsy.

Guerrini R, Melani F, Brancati C, Ferrari AR, Brovedani P, Biggeri A, Grisotto L, Pellacani S.

PLoS One. 2015 Jul 1;10(7):e0130883. doi: 10.1371/journal.pone.0130883. eCollection 2015.

6.

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.

7.

An update of the classical and novel methods used for measuring fast neurotransmitters during normal and brain altered function.

Cifuentes Castro VH, López Valenzuela CL, Salazar Sánchez JC, Peña KP, López Pérez SJ, Ibarra JO, Villagrán AM.

Curr Neuropharmacol. 2014 Dec;12(6):490-508. doi: 10.2174/1570159X13666141223223657.

8.

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.

9.

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.

Carvill GL, McMahon JM, Schneider A, Zemel M, Myers CT, Saykally J, Nguyen J, Robbiano A, Zara F, Specchio N, Mecarelli O, Smith RL, Leventer RJ, Møller RS, Nikanorova M, Dimova P, Jordanova A, Petrou S; EuroEPINOMICS Rare Epilepsy Syndrome Myoclonic-Astatic Epilepsy & Dravet working group, Helbig I, Striano P, Weckhuysen S, Berkovic SF, Scheffer IE, Mefford HC.

Am J Hum Genet. 2015 May 7;96(5):808-15. doi: 10.1016/j.ajhg.2015.02.016. Epub 2015 Apr 9.

10.

Endozepines.

Farzampour Z, Reimer RJ, Huguenard J.

Adv Pharmacol. 2015;72:147-64. doi: 10.1016/bs.apha.2014.10.005. Epub 2014 Dec 4. Review.

11.

SWDreader: a wavelet-based algorithm using spectral phase to characterize spike-wave morphological variation in genetic models of absence epilepsy.

Richard CD, Tanenbaum A, Audit B, Arneodo A, Khalil A, Frankel WN.

J Neurosci Methods. 2015 Mar 15;242:127-40. doi: 10.1016/j.jneumeth.2014.12.016. Epub 2014 Dec 27.

12.

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.

13.

Single-cell genetic expression of mutant GABAA receptors causing Human genetic epilepsy alters dendritic spine and GABAergic bouton formation in a mutation-specific manner.

Lachance-Touchette P, Choudhury M, Stoica A, Di Cristo G, Cossette P.

Front Cell Neurosci. 2014 Oct 14;8:317. doi: 10.3389/fncel.2014.00317. eCollection 2014.

14.

Long distance effect on ligand-gated ion channels extracellular domain may affect interactions with the intracellular machinery.

Garret M, Boué-Grabot E, Taly A.

Commun Integr Biol. 2014 Feb 6;7:e27984. doi: 10.4161/cib.27984. eCollection 2014.

15.

A genetic interaction network model of a complex neurological disease.

Tyler AL, McGarr TC, Beyer BJ, Frankel WN, Carter GW.

Genes Brain Behav. 2014 Nov;13(8):831-40. doi: 10.1111/gbb.12178. Epub 2014 Oct 27.

16.

Cortical interneurons join the mix in absence seizures.

Wong M.

Epilepsy Curr. 2014 Jul;14(4):215-7. doi: 10.5698/1535-7597-14.4.215. No abstract available.

17.

Animal models of absence epilepsies: what do they model and do sex and sex hormones matter?

van Luijtelaar G, Onat FY, Gallagher MJ.

Neurobiol Dis. 2014 Dec;72 Pt B:167-79. doi: 10.1016/j.nbd.2014.08.014. Epub 2014 Aug 15. Review.

18.

A novel variant in GABRB2 associated with intellectual disability and epilepsy.

Srivastava S, Cohen J, Pevsner J, Aradhya S, McKnight D, Butler E, Johnston M, Fatemi A.

Am J Med Genet A. 2014 Nov;164A(11):2914-21. doi: 10.1002/ajmg.a.36714. Epub 2014 Aug 13.

19.

Fast detection of extrasynaptic GABA with a whole-cell sniffer.

Christensen RK, Petersen AV, Schmitt N, Perrier JF.

Front Cell Neurosci. 2014 May 15;8:133. doi: 10.3389/fncel.2014.00133. eCollection 2014.

20.

Three epilepsy-associated GABRG2 missense mutations at the γ+/β- interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents.

Huang X, Hernandez CC, Hu N, Macdonald RL.

Neurobiol Dis. 2014 Aug;68:167-79. doi: 10.1016/j.nbd.2014.04.015. Epub 2014 May 4.

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