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Items: 11

1.

Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.

Pérez-Palma E, Helbig I, Klein KM, Anttila V, Horn H, Reinthaler EM, Gormley P, Ganna A, Byrnes A, Pernhorst K, Toliat MR, Saarentaus E, Howrigan DP, Hoffman P, Miquel JF, De Ferrari GV, Nürnberg P, Lerche H, Zimprich F, Neubauer BA, Becker AJ, Rosenow F, Perucca E, Zara F, Weber YG, Lal D.

J Med Genet. 2017 Sep;54(9):598-606. doi: 10.1136/jmedgenet-2016-104495. Epub 2017 Jul 29.

2.

Gene expression variance in hippocampal tissue of temporal lobe epilepsy patients corresponds to differential memory performance.

Bungenberg J, Surano N, Grote A, Surges R, Pernhorst K, Hofmann A, Schoch S, Helmstaedter C, Becker AJ.

Neurobiol Dis. 2016 Feb;86:121-30. doi: 10.1016/j.nbd.2015.11.011. Epub 2015 Nov 26.

PMID:
26631617
3.

Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy.

Lal D, Pernhorst K, Klein KM, Reif P, Tozzi R, Toliat MR, Winterer G, Neubauer B, Nürnberg P, Rosenow F, Becker F, Lerche H, Kunz WS, Kurki MI, Hoffmann P, Becker AJ, Perucca E, Zara F, Sander T, Weber YG.

Epilepsia. 2015 Sep;56(9):e129-33. doi: 10.1111/epi.13076. Epub 2015 Jul 15.

4.

Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus.

Johnson MR, Behmoaras J, Bottolo L, Krishnan ML, Pernhorst K, Santoscoy PLM, Rossetti T, Speed D, Srivastava PK, Chadeau-Hyam M, Hajji N, Dabrowska A, Rotival M, Razzaghi B, Kovac S, Wanisch K, Grillo FW, Slaviero A, Langley SR, Shkura K, Roncon P, De T, Mattheisen M, Niehusmann P, O'Brien TJ, Petrovski S, von Lehe M, Hoffmann P, Eriksson J, Coffey AJ, Cichon S, Walker M, Simonato M, Danis B, Mazzuferi M, Foerch P, Schoch S, De Paola V, Kaminski RM, Cunliffe VT, Becker AJ, Petretto E.

Nat Commun. 2015 Jan 23;6:6031. doi: 10.1038/ncomms7031.

5.

Levetiracetam resistance: Synaptic signatures & corresponding promoter SNPs in epileptic hippocampi.

Grimminger T, Pernhorst K, Surges R, Niehusmann P, Priebe L, von Lehe M, Hoffmann P, Cichon S, Schoch S, Becker AJ.

Neurobiol Dis. 2013 Dec;60:115-25. doi: 10.1016/j.nbd.2013.08.015. Epub 2013 Sep 7.

PMID:
24018139
6.

TLR4, ATF-3 and IL8 inflammation mediator expression correlates with seizure frequency in human epileptic brain tissue.

Pernhorst K, Herms S, Hoffmann P, Cichon S, Schulz H, Sander T, Schoch S, Becker AJ, Grote A.

Seizure. 2013 Oct;22(8):675-8. doi: 10.1016/j.seizure.2013.04.023. Epub 2013 May 22.

7.

Rs6295 promoter variants of the serotonin type 1A receptor are differentially activated by c-Jun in vitro and correlate to transcript levels in human epileptic brain tissue.

Pernhorst K, van Loo KM, von Lehe M, Priebe L, Cichon S, Herms S, Hoffmann P, Helmstaedter C, Sander T, Schoch S, Becker AJ.

Brain Res. 2013 Mar 7;1499:136-44. doi: 10.1016/j.brainres.2012.12.045. Epub 2013 Jan 16. Erratum in: Brain Res. 2014 Mar 25;1555:97-8.

PMID:
23333373
8.

Transcriptional regulation of T-type calcium channel CaV3.2: bi-directionality by early growth response 1 (Egr1) and repressor element 1 (RE-1) protein-silencing transcription factor (REST).

van Loo KM, Schaub C, Pernhorst K, Yaari Y, Beck H, Schoch S, Becker AJ.

J Biol Chem. 2012 May 4;287(19):15489-501. doi: 10.1074/jbc.M111.310763. Epub 2012 Mar 19.

9.

Cliniconeuropathologic correlations show astroglial albumin storage as a common factor in epileptogenic vascular lesions.

Raabe A, Schmitz AK, Pernhorst K, Grote A, von der Brelie C, Urbach H, Friedman A, Becker AJ, Elger CE, Niehusmann P.

Epilepsia. 2012 Mar;53(3):539-48. doi: 10.1111/j.1528-1167.2012.03405.x.

10.

Promoter variants determine γ-aminobutyric acid homeostasis-related gene transcription in human epileptic hippocampi.

Pernhorst K, Raabe A, Niehusmann P, van Loo KM, Grote A, Hoffmann P, Cichon S, Sander T, Schoch S, Becker AJ.

J Neuropathol Exp Neurol. 2011 Dec;70(12):1080-8. doi: 10.1097/NEN.0b013e318238b9af.

PMID:
22082659
11.

Hamartin variants that are frequent in focal dysplasias and cortical tubers have reduced tuberin binding and aberrant subcellular distribution in vitro.

Lugnier C, Majores M, Fassunke J, Pernhorst K, Niehusmann P, Simon M, Nellist M, Schoch S, Becker A.

J Neuropathol Exp Neurol. 2009 Oct;68(10):1136-46. doi: 10.1097/NEN.0b013e3181b9a699.

PMID:
19918125

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