Kullmann DM - Search Results

1

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.

Zuberi SM, Eunson LH, Spauschus A, De Silva R, Tolmie J, Wood NW, McWilliam RC, Stephenson JB, Kullmann DM, Hanna MG. Zuberi SM, et al. Among authors: kullmann dm. Brain. 1999 May;122 ( Pt 5):817-25. doi: 10.1093/brain/122.5.817. Brain. 1999. PMID: 10355668

2

Functional characterization of a novel mutation in KCNA1 in episodic ataxia type 1 associated with epilepsy.

Spauschus A, Eunson L, Hanna MG, Kullmann DM. Spauschus A, et al. Among authors: kullmann dm. Ann N Y Acad Sci. 1999 Apr 30;868:442-6. doi: 10.1111/j.1749-6632.1999.tb11310.x. Ann N Y Acad Sci. 1999. PMID: 10414318 No abstract available.

3

Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.

Eunson LH, Rea R, Zuberi SM, Youroukos S, Panayiotopoulos CP, Liguori R, Avoni P, McWilliam RC, Stephenson JB, Hanna MG, Kullmann DM, Spauschus A. Eunson LH, et al. Among authors: kullmann dm. Ann Neurol. 2000 Oct;48(4):647-56. Ann Neurol. 2000. PMID: 11026449

4

Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.

Jouvenceau A, Eunson LH, Spauschus A, Ramesh V, Zuberi SM, Kullmann DM, Hanna MG. Jouvenceau A, et al. Among authors: kullmann dm. Lancet. 2001 Sep 8;358(9284):801-7. doi: 10.1016/S0140-6736(01)05971-2. Lancet. 2001. PMID: 11564488

5

Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A.

Imbrici P, Eunson LH, Graves TD, Bhatia KP, Wadia NH, Kullmann DM, Hanna MG. Imbrici P, et al. Among authors: kullmann dm. Neurology. 2005 Sep 27;65(6):944-6. doi: 10.1212/01.wnl.0000176069.64200.28. Neurology. 2005. PMID: 16186543

6

Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins.

Graves TD, Rajakulendran S, Zuberi SM, Morris HR, Schorge S, Hanna MG, Kullmann DM. Graves TD, et al. Among authors: kullmann dm. Neurology. 2010 Jul 27;75(4):367-72. doi: 10.1212/WNL.0b013e3181ea9ee3. Neurology. 2010. PMID: 20660867 Free PMC article.

7

Genetic neurological channelopathies: molecular genetics and clinical phenotypes.

Spillane J, Kullmann DM, Hanna MG. Spillane J, et al. Among authors: kullmann dm. J Neurol Neurosurg Psychiatry. 2016 Jan;87(1):37-48. doi: 10.1136/jnnp-2015-311233. Epub 2015 Nov 11. J Neurol Neurosurg Psychiatry. 2016. PMID: 26558925 Free PMC article. Review.

8

The inherited episodic ataxias: how well do we understand the disease mechanisms?

Kullmann DM, Rea R, Spauschus A, Jouvenceau A. Kullmann DM, et al. Neuroscientist. 2001 Feb;7(1):80-8. doi: 10.1177/107385840100700111. Neuroscientist. 2001. PMID: 11486347 Review.

9

Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.

Fialho D, Schorge S, Pucovska U, Davies NP, Labrum R, Haworth A, Stanley E, Sud R, Wakeling W, Davis MB, Kullmann DM, Hanna MG. Fialho D, et al. Among authors: kullmann dm. Brain. 2007 Dec;130(Pt 12):3265-74. doi: 10.1093/brain/awm248. Epub 2007 Oct 11. Brain. 2007. PMID: 17932099

10

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.

Matthews E, Labrum R, Sweeney MG, Sud R, Haworth A, Chinnery PF, Meola G, Schorge S, Kullmann DM, Davis MB, Hanna MG. Matthews E, et al. Among authors: kullmann dm. Neurology. 2009 May 5;72(18):1544-7. doi: 10.1212/01.wnl.0000342387.65477.46. Epub 2008 Dec 31. Neurology. 2009. PMID: 19118277 Free PMC article.

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