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Items: 1 to 20 of 88

1.

Epilepsy genetics: yet more exciting news.

Lowenstein D, Messing R.

Ann Neurol. 2007 Dec;62(6):549-50. No abstract available.

PMID:
17932953
2.

Regulation of T-type calcium channels: signalling pathways and functional implications.

Huc S, Monteil A, Bidaud I, Barbara G, Chemin J, Lory P.

Biochim Biophys Acta. 2009 Jun;1793(6):947-52. doi: 10.1016/j.bbamcr.2008.11.003. Epub 2008 Nov 24. Review.

3.

Channelopathies in idiopathic epilepsy.

Heron SE, Scheffer IE, Berkovic SF, Dibbens LM, Mulley JC.

Neurotherapeutics. 2007 Apr;4(2):295-304. Review.

PMID:
17395140
4.

Genetic variation of CACNA1H in idiopathic generalized epilepsy.

Heron SE, Phillips HA, Mulley JC, Mazarib A, Neufeld MY, Berkovic SF, Scheffer IE.

Ann Neurol. 2004 Apr;55(4):595-6. No abstract available.

PMID:
15048902
5.

[Human calcium channelopathies. Voltage-gated Ca(2+) channels in etiology, pathogenesis, and pharmacotherapy of neurologic disorders].

Weiergräber M, Hescheler J, Schneider T.

Nervenarzt. 2008 Apr;79(4):426-36. doi: 10.1007/s00115-007-2398-6. Review. German.

PMID:
18210049
6.

[Genetics of epilepsy].

Charria-Ortiz GA.

Medicina (B Aires). 2007;67(6 Pt 1):601-13. Review. Spanish.

PMID:
18422086
7.

Genetics of the epilepsies: channelopathies and beyond.

Scheffer IE.

Epilepsia. 2011 Jan;52(1):192-3; discussion 193-6. doi: 10.1111/j.1528-1167.2010.02934.x. No abstract available.

8.

Calcium channelopathies: voltage-gated calcium channels.

Adams PJ, Snutch TP.

Subcell Biochem. 2007;45:215-51. Review.

PMID:
18193639
9.

What's new in: "genetics in childhood epilepsy".

Lagae L.

Eur J Pediatr. 2008 Jul;167(7):715-22. doi: 10.1007/s00431-008-0690-5. Epub 2008 Mar 5. Review.

PMID:
18320221
10.

A Cav3.2 T-type calcium channel point mutation has splice-variant-specific effects on function and segregates with seizure expression in a polygenic rat model of absence epilepsy.

Powell KL, Cain SM, Ng C, Sirdesai S, David LS, Kyi M, Garcia E, Tyson JR, Reid CA, Bahlo M, Foote SJ, Snutch TP, O'Brien TJ.

J Neurosci. 2009 Jan 14;29(2):371-80. doi: 10.1523/JNEUROSCI.5295-08.2009.

11.

Expanded alternative splice isoform profiling of the mouse Cav3.1/alpha1G T-type calcium channel.

Ernst WL, Noebels JL.

BMC Mol Biol. 2009 May 29;10:53. doi: 10.1186/1471-2199-10-53.

12.

An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene.

Kapoor A, Satishchandra P, Ratnapriya R, Reddy R, Kadandale J, Shankar SK, Anand A.

Ann Neurol. 2008 Aug;64(2):158-67. doi: 10.1002/ana.21428.

PMID:
18756473
13.

Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity.

Kanai K, Yoshida S, Hirose S, Oguni H, Kuwabara S, Sawai S, Hiraga A, Fukuma G, Iwasa H, Kojima T, Kaneko S.

J Med Genet. 2009 Oct;46(10):671-9. doi: 10.1136/jmg.2008.060897. Epub 2009 Jul 7.

PMID:
19586930
14.

Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice.

Tester DJ, Ackerman MJ.

Circulation. 2011 Mar 8;123(9):1021-37. doi: 10.1161/CIRCULATIONAHA.109.914838. Review. No abstract available.

15.

Understanding cardiac calcium channelopathies.

London B.

Circulation. 2008 Nov 25;118(22):2221-2. doi: 10.1161/CIRCULATIONAHA.108.819847. No abstract available.

16.

Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations.

Stafstrom CE.

J Child Neurol. 2009 Aug;24(8 Suppl):15S-23S. doi: 10.1177/0883073809338152. Review.

PMID:
19666879
17.

KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes.

Neubauer BA, Waldegger S, Heinzinger J, Hahn A, Kurlemann G, Fiedler B, Eberhard F, Muhle H, Stephani U, Garkisch S, Eeg-Olofsson O, Müller U, Sander T.

Neurology. 2008 Jul 15;71(3):177-83. doi: 10.1212/01.wnl.0000317090.92185.ec.

PMID:
18625963
18.

Channels: exciting developments.

Baxter P.

Dev Med Child Neurol. 2011 Jul;53(7):577-8. doi: 10.1111/j.1469-8749.2011.04019.x. No abstract available.

19.

Stepwise developmental regression associated with novel CACNA1A mutation.

Guerin AA, Feigenbaum A, Donner EJ, Yoon G.

Pediatr Neurol. 2008 Nov;39(5):363-4. doi: 10.1016/j.pediatrneurol.2008.07.030.

PMID:
18940563
20.

Altered functional expression of Purkinje cell calcium channels precedes motor dysfunction in tottering mice.

Erickson MA, Haburćák M, Smukler L, Dunlap K.

Neuroscience. 2007 Dec 12;150(3):547-55. Epub 2007 Sep 29.

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