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Items: 1 to 50 of 270

1.

Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation.

Thor MG, Vivekanandam V, Sampedro-Castañeda M, Tan SV, Suetterlin K, Sud R, Durran S, Schorge S, Kullmann DM, Hanna MG, Matthews E, Männikkö R.

Sci Rep. 2019 Nov 26;9(1):17560. doi: 10.1038/s41598-019-54041-0.

2.

Rhombencephalitis and Myeloradiculitis Caused by a European Subtype of Tick-Borne Encephalitis Virus.

Neill L, Checkley AM, Benjamin LA, Herdman MT, Carter DP, Pullan ST, Aarons E, Griffiths K, Monaghan B, Karunaratne K, Ciccarelli O, Spillane J, Moore DAJ, Kullmann DM.

Emerg Infect Dis. 2019 Dec;25(12):2317-2319. doi: 10.3201/eid2512.191017.

3.

Editorial.

Kullmann DM.

Brain. 2019 Nov 1;142(11):3315. doi: 10.1093/brain/awz334. No abstract available.

PMID:
31665754
4.

Dendritic NMDA receptors in parvalbumin neurons enable strong and stable neuronal assemblies.

Cornford JH, Mercier MS, Leite M, Magloire V, Häusser M, Kullmann DM.

Elife. 2019 Oct 28;8. pii: e49872. doi: 10.7554/eLife.49872.

5.

Preparation of dissociated mouse primary neuronal cultures from long-term cryopreserved brain tissue.

Cano-Jaimez M, Tagliatti E, Mendonca PRF, Nicholson E, Vivekananda U, Kullmann DM, Volynski KE.

J Neurosci Methods. 2019 Oct 23;330:108452. doi: 10.1016/j.jneumeth.2019.108452. [Epub ahead of print]

6.

dCas9-Based Scn1a Gene Activation Restores Inhibitory Interneuron Excitability and Attenuates Seizures in Dravet Syndrome Mice.

Colasante G, Lignani G, Brusco S, Di Berardino C, Carpenter J, Giannelli S, Valassina N, Bido S, Ricci R, Castoldi V, Marenna S, Church T, Massimino L, Morabito G, Benfenati F, Schorge S, Leocani L, Kullmann DM, Broccoli V.

Mol Ther. 2019 Sep 3. pii: S1525-0016(19)30401-0. doi: 10.1016/j.ymthe.2019.08.018. [Epub ahead of print]

PMID:
31607539
7.

Glycine receptor autoantibodies disrupt inhibitory neurotransmission.

Crisp SJ, Dixon CL, Jacobson L, Chabrol E, Irani SR, Leite MI, Leschziner G, Slaght SJ, Vincent A, Kullmann DM.

Brain. 2019 Nov 1;142(11):3398-3410. doi: 10.1093/brain/awz297.

8.

Editorial.

Kullmann DM.

Brain. 2019 Oct 1;142(10):2893-2894. doi: 10.1093/brain/awz282. No abstract available.

PMID:
31560063
9.

Cell-Free Expression of Sodium Channel Domains for Pharmacology Studies. Noncanonical Spider Toxin Binding Site in the Second Voltage-Sensing Domain of Human Nav1.4 Channel.

Myshkin MY, Männikkö R, Krumkacheva OA, Kulbatskii DS, Chugunov AO, Berkut AA, Paramonov AS, Shulepko MA, Fedin MV, Hanna MG, Kullmann DM, Bagryanskaya EG, Arseniev AS, Kirpichnikov MP, Lyukmanova EN, Vassilevski AA, Shenkarev ZO.

Front Pharmacol. 2019 Sep 4;10:953. doi: 10.3389/fphar.2019.00953. eCollection 2019.

10.

Editorial.

Kullmann DM.

Brain. 2019 Jul 1;142(7):1847. doi: 10.1093/brain/awz173. No abstract available.

PMID:
31505547
11.

Editorial.

Kullmann DM.

Brain. 2019 Sep 1;142(9):2545. doi: 10.1093/brain/awz253. No abstract available.

PMID:
31497863
12.

Optogenetic and chemogenetic therapies for epilepsy.

Walker MC, Kullmann DM.

Neuropharmacology. 2019 Sep 5:107751. doi: 10.1016/j.neuropharm.2019.107751. [Epub ahead of print] Review.

PMID:
31494141
13.

Editorial.

Kullmann DM.

Brain. 2018 Oct 1;141(10):2823. doi: 10.1093/brain/awy249. No abstract available.

PMID:
31367749
14.

Editorial.

Kullmann DM.

Brain. 2019 Aug 1;142(8):2169. doi: 10.1093/brain/awz220. No abstract available.

PMID:
31347683
15.

A genetically encoded fluorescent sensor for in vivo imaging of GABA.

Marvin JS, Shimoda Y, Magloire V, Leite M, Kawashima T, Jensen TP, Kolb I, Knott EL, Novak O, Podgorski K, Leidenheimer NJ, Rusakov DA, Ahrens MB, Kullmann DM, Looger LL.

Nat Methods. 2019 Aug;16(8):763-770. doi: 10.1038/s41592-019-0471-2. Epub 2019 Jul 15.

PMID:
31308547
16.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H.

Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w.

17.

Novel therapies for epilepsy in the pipeline.

Mesraoua B, Deleu D, Kullmann DM, Shetty AK, Boon P, Perucca E, Mikati MA, Asadi-Pooya AA.

Epilepsy Behav. 2019 Aug;97:282-290. doi: 10.1016/j.yebeh.2019.04.042. Epub 2019 Jul 6. Review.

PMID:
31284159
18.

Editorial.

Kullmann DM.

Brain. 2019 Jun 1;142(6):1489-1490. doi: 10.1093/brain/awz135. No abstract available.

PMID:
31135047
19.

Designer receptor technology for the treatment of epilepsy.

Lieb A, Weston M, Kullmann DM.

EBioMedicine. 2019 May;43:641-649. doi: 10.1016/j.ebiom.2019.04.059. Epub 2019 May 9. Review.

20.

Editorial.

Kullmann DM.

Brain. 2019 May 1;142(5):1165. doi: 10.1093/brain/awz110. No abstract available.

PMID:
31032847
21.

Olanzapine: A potent agonist at the hM4D(Gi) DREADD amenable to clinical translation of chemogenetics.

Weston M, Kaserer T, Wu A, Mouravlev A, Carpenter JC, Snowball A, Knauss S, von Schimmelmann M, During MJ, Lignani G, Schorge S, Young D, Kullmann DM, Lieb A.

Sci Adv. 2019 Apr 17;5(4):eaaw1567. doi: 10.1126/sciadv.aaw1567. eCollection 2019 Apr.

22.

Hippocampal-prefrontal coherence mediates working memory and selective attention at distinct frequency bands and provides a causal link between schizophrenia and its risk gene GRIA1.

Bygrave AM, Jahans-Price T, Wolff AR, Sprengel R, Kullmann DM, Bannerman DM, Kätzel D.

Transl Psychiatry. 2019 Apr 18;9(1):142. doi: 10.1038/s41398-019-0471-0.

23.

Editorial.

Kullmann DM.

Brain. 2019 Apr 1;142(4):833. doi: 10.1093/brain/awz077. No abstract available.

PMID:
30946476
24.

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.

Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C; Deciphering Developmental Disorders Study; SYNAPS Study Group, Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H.

Am J Hum Genet. 2019 Apr 4;104(4):721-730. doi: 10.1016/j.ajhg.2019.02.016. Epub 2019 Mar 28.

25.

KCC2 overexpression prevents the paradoxical seizure-promoting action of somatic inhibition.

Magloire V, Cornford J, Lieb A, Kullmann DM, Pavlov I.

Nat Commun. 2019 Mar 15;10(1):1225. doi: 10.1038/s41467-019-08933-4.

26.

Editorial.

Kullmann DM.

Brain. 2019 Mar 1;142(3):489. doi: 10.1093/brain/awz028. No abstract available.

PMID:
30810214
27.

Epilepsy Gene Therapy Using an Engineered Potassium Channel.

Snowball A, Chabrol E, Wykes RC, Shekh-Ahmad T, Cornford JH, Lieb A, Hughes MP, Massaro G, Rahim AA, Hashemi KS, Kullmann DM, Walker MC, Schorge S.

J Neurosci. 2019 Apr 17;39(16):3159-3169. doi: 10.1523/JNEUROSCI.1143-18.2019. Epub 2019 Feb 12.

28.

Editorial.

Kullmann DM.

Brain. 2018 Mar 1;141(3):621. doi: 10.1093/brain/awy038. No abstract available.

PMID:
30753415
29.

Editorial.

Kullmann DM.

Brain. 2019 Feb 1;142(2):227. doi: 10.1093/brain/awy350. No abstract available.

PMID:
30698761
30.

Loss of Frrs1l disrupts synaptic AMPA receptor function, and results in neurodevelopmental, motor, cognitive and electrographical abnormalities.

Stewart M, Lau P, Banks G, Bains RS, Castroflorio E, Oliver PL, Dixon CL, Kruer MC, Kullmann DM, Acevedo-Arozena A, Wells SE, Corrochano S, Nolan PM.

Dis Model Mech. 2019 Feb 22;12(2). pii: dmm036806. doi: 10.1242/dmm.036806.

31.

Gene-Environment Interaction in a Conditional NMDAR-Knockout Model of Schizophrenia.

Bygrave AM, Masiulis S, Kullmann DM, Bannerman DM, Kätzel D.

Front Behav Neurosci. 2019 Jan 10;12:332. doi: 10.3389/fnbeh.2018.00332. eCollection 2018.

32.

Editorial.

Kullmann DM.

Brain. 2019 Jan 1;142(1):1. doi: 10.1093/brain/awy321. No abstract available.

PMID:
30596908
33.

Editorial.

Kullmann DM.

Brain. 2018 Dec 1;141(12):3279. doi: 10.1093/brain/awy295. No abstract available.

PMID:
30496364
34.

Semiology, clustering, periodicity and natural history of seizures in an experimental occipital cortical epilepsy model.

Chang BL, Leite M, Snowball A, Lieb A, Chabrol E, Walker MC, Kullmann DM, Schorge S, Wykes RC.

Dis Model Mech. 2018 Dec 14;11(12). pii: dmm036194. doi: 10.1242/dmm.036194.

35.

Editorial.

Kullmann DM.

Brain. 2018 Nov 1;141(11):3083. doi: 10.1093/brain/awy268. No abstract available.

PMID:
30364980
36.

Analogue closed-loop optogenetic modulation of hippocampal pyramidal cells dissociates gamma frequency and amplitude.

Nicholson E, Kuzmin DA, Leite M, Akam TE, Kullmann DM.

Elife. 2018 Oct 23;7. pii: e38346. doi: 10.7554/eLife.38346.

37.

GABAergic Interneurons in Seizures: Investigating Causality With Optogenetics.

Magloire V, Mercier MS, Kullmann DM, Pavlov I.

Neuroscientist. 2019 Aug;25(4):344-358. doi: 10.1177/1073858418805002. Epub 2018 Oct 15.

38.

Editorial.

Kullmann DM.

Brain. 2018 Sep 1;141(9):2533. doi: 10.1093/brain/awy227. No abstract available.

PMID:
30169592
39.

Optogenetic induction of the schizophrenia-related endophenotype of ventral hippocampal hyperactivity causes rodent correlates of positive and cognitive symptoms.

Wolff AR, Bygrave AM, Sanderson DJ, Boyden ES, Bannerman DM, Kullmann DM, Kätzel D.

Sci Rep. 2018 Aug 27;8(1):12871. doi: 10.1038/s41598-018-31163-5.

40.

Editorial.

Kullmann DM.

Brain. 2018 Aug 1;141(8):2231. doi: 10.1093/brain/awy201. No abstract available.

PMID:
30060020
41.

Editorial.

Kullmann DM.

Brain. 2018 Jul 1;141(7):1887. doi: 10.1093/brain/awy166. No abstract available.

PMID:
30053177
42.

Biochemical autoregulatory gene therapy for focal epilepsy.

Lieb A, Qiu Y, Dixon CL, Heller JP, Walker MC, Schorge S, Kullmann DM.

Nat Med. 2018 Sep;24(9):1324-1329. doi: 10.1038/s41591-018-0103-x. Epub 2018 Jul 9.

43.

Application of long single-stranded DNA donors in genome editing: generation and validation of mouse mutants.

Codner GF, Mianné J, Caulder A, Loeffler J, Fell R, King R, Allan AJ, Mackenzie M, Pike FJ, McCabe CV, Christou S, Joynson S, Hutchison M, Stewart ME, Kumar S, Simon MM, Agius L, Anstee QM, Volynski KE, Kullmann DM, Wells S, Teboul L.

BMC Biol. 2018 Jun 21;16(1):70. doi: 10.1186/s12915-018-0530-7.

44.

Editorial.

Kullmann DM.

Brain. 2018 May 1;141(5):1235. doi: 10.1093/brain/awy106. No abstract available.

PMID:
29701792
45.

Spider toxin inhibits gating pore currents underlying periodic paralysis.

Männikkö R, Shenkarev ZO, Thor MG, Berkut AA, Myshkin MY, Paramonov AS, Kulbatskii DS, Kuzmin DA, Sampedro Castañeda M, King L, Wilson ER, Lyukmanova EN, Kirpichnikov MP, Schorge S, Bosmans F, Hanna MG, Kullmann DM, Vassilevski AA.

Proc Natl Acad Sci U S A. 2018 Apr 24;115(17):4495-4500. doi: 10.1073/pnas.1720185115. Epub 2018 Apr 10.

46.

The Enlightened Brain: Novel Imaging Methods Focus on Epileptic Networks at Multiple Scales.

Rossi LF, Kullmann DM, Wykes RC.

Front Cell Neurosci. 2018 Mar 26;12:82. doi: 10.3389/fncel.2018.00082. eCollection 2018.

47.

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.

Männikkö R, Wong L, Tester DJ, Thor MG, Sud R, Kullmann DM, Sweeney MG, Leu C, Sisodiya SM, FitzPatrick DR, Evans MJ, Jeffrey IJM, Tfelt-Hansen J, Cohen MC, Fleming PJ, Jaye A, Simpson MA, Ackerman MJ, Hanna MG, Behr ER, Matthews E.

Lancet. 2018 Apr 14;391(10129):1483-1492. doi: 10.1016/S0140-6736(18)30021-7. Epub 2018 Apr 5.

48.

Editorial.

Kullmann DM.

Brain. 2018 Apr 1;141(4):935. doi: 10.1093/brain/awy074. No abstract available.

PMID:
29596669
49.

Pathogenic potential of antibodies to the GABAB receptor.

Nibber A, Mann EO, Pettingill P, Waters P, Irani SR, Kullmann DM, Vincent A, Lang B.

Epilepsia Open. 2017 Jul 19;2(3):355-359. doi: 10.1002/epi4.12067. eCollection 2017 Sep.

50.

Imaging pathological activities of human brain tissue in organotypic culture.

Le Duigou C, Savary E, Morin-Brureau M, Gomez-Dominguez D, Sobczyk A, Chali F, Milior G, Kraus L, Meier JC, Kullmann DM, Mathon B, de la Prida LM, Dorfmuller G, Pallud J, Eugène E, Clemenceau S, Miles R.

J Neurosci Methods. 2018 Mar 15;298:33-44. doi: 10.1016/j.jneumeth.2018.02.001. Epub 2018 Feb 7.

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