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Items: 1 to 20 of 135

1.

New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy.

Pinggera A, Mackenroth L, Rump A, Schallner J, Beleggia F, Wollnik B, Striessnig J.

Hum Mol Genet. 2017 Aug 1;26(15):2923-2932. doi: 10.1093/hmg/ddx175.

2.

CACNA1D de novo mutations in autism spectrum disorders activate Cav1.3 L-type calcium channels.

Pinggera A, Lieb A, Benedetti B, Lampert M, Monteleone S, Liedl KR, Tuluc P, Striessnig J.

Biol Psychiatry. 2015 May 1;77(9):816-22. doi: 10.1016/j.biopsych.2014.11.020. Epub 2014 Dec 8.

3.

Gating defects of disease-causing de novo mutations in Cav1.3 Ca2+ channels.

Pinggera A, Negro G, Tuluc P, Brown MJ, Lieb A, Striessnig J.

Channels (Austin). 2018;12(1):388-402. doi: 10.1080/19336950.2018.1546518.

4.

Cav 1.3 (CACNA1D) L-type Ca2+ channel dysfunction in CNS disorders.

Pinggera A, Striessnig J.

J Physiol. 2016 Oct 15;594(20):5839-5849. doi: 10.1113/JP270672. Epub 2016 Feb 29. Review.

5.

Role of a conserved glutamine in the function of voltage-gated Ca2+ channels revealed by a mutation in human CACNA1D.

Garza-Lopez E, Lopez JA, Hagen J, Sheffer R, Meiner V, Lee A.

J Biol Chem. 2018 Sep 14;293(37):14444-14454. doi: 10.1074/jbc.RA118.003681. Epub 2018 Jul 27.

6.

An autism-associated mutation in CaV1.3 channels has opposing effects on voltage- and Ca(2+)-dependent regulation.

Limpitikul WB, Dick IE, Ben-Johny M, Yue DT.

Sci Rep. 2016 Jun 3;6:27235. doi: 10.1038/srep27235.

7.

C-terminal modulatory domain controls coupling of voltage-sensing to pore opening in Cav1.3 L-type Ca(2+) channels.

Lieb A, Ortner N, Striessnig J.

Biophys J. 2014 Apr 1;106(7):1467-75. doi: 10.1016/j.bpj.2014.02.017.

8.

Impaired chromaffin cell excitability and exocytosis in autistic Timothy syndrome TS2-neo mouse rescued by L-type calcium channel blockers.

Calorio C, Gavello D, Guarina L, Salio C, Sassoè-Pognetto M, Riganti C, Bianchi FT, Hofer NT, Tuluc P, Obermair GJ, Defilippi P, Balzac F, Turco E, Bett GC, Rasmusson RL, Carbone E.

J Physiol. 2019 Mar;597(6):1705-1733. doi: 10.1113/JP277487. Epub 2019 Jan 28.

PMID:
30629744
9.

Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.

Rhodes TH, Vanoye CG, Ohmori I, Ogiwara I, Yamakawa K, George AL Jr.

J Physiol. 2005 Dec 1;569(Pt 2):433-45. Epub 2005 Oct 6.

10.

Temperature dependence of Cav1.4 calcium channel gating.

Peloquin JB, Doering CJ, Rehak R, McRory JE.

Neuroscience. 2008 Feb 19;151(4):1066-83. doi: 10.1016/j.neuroscience.2007.11.053. Epub 2007 Dec 8.

PMID:
18206315
11.

De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.

Butler KM, da Silva C, Shafir Y, Weisfeld-Adams JD, Alexander JJ, Hegde M, Escayg A.

Epilepsy Res. 2017 Jan;129:17-25. doi: 10.1016/j.eplepsyres.2016.11.002. Epub 2016 Nov 6.

12.

Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures.

Ben-Shalom R, Keeshen CM, Berrios KN, An JY, Sanders SJ, Bender KJ.

Biol Psychiatry. 2017 Aug 1;82(3):224-232. doi: 10.1016/j.biopsych.2017.01.009. Epub 2017 Jan 27.

13.

[The third case report a patient with primary aldosteronism, seizures, and neurologic abnormalities (PASNA) syndrome de novo variant mutations in the CACNA1D gene].

Semenova NA, Ryzhkova OR, Strokova TV, Taran NN.

Zh Nevrol Psikhiatr Im S S Korsakova. 2018;118(12):49-52. doi: 10.17116/jnevro201811812149. Russian.

PMID:
30698561
14.

Characterization of C-terminal Splice Variants of Cav1.4 Ca2+ Channels in Human Retina.

Haeseleer F, Williams B, Lee A.

J Biol Chem. 2016 Jul 22;291(30):15663-73. doi: 10.1074/jbc.M116.731737. Epub 2016 May 17.

16.

Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.

Lee H, Lin MC, Kornblum HI, Papazian DM, Nelson SF.

Hum Mol Genet. 2014 Jul 1;23(13):3481-9. doi: 10.1093/hmg/ddu056. Epub 2014 Feb 5.

17.

The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels.

Barrett CF, Tsien RW.

Proc Natl Acad Sci U S A. 2008 Feb 12;105(6):2157-62. doi: 10.1073/pnas.0710501105. Epub 2008 Feb 4.

18.

Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2.

Burtscher V, Schicker K, Novikova E, Pöhn B, Stockner T, Kugler C, Singh A, Zeitz C, Lancelot ME, Audo I, Leroy BP, Freissmuth M, Herzig S, Matthes J, Koschak A.

Biochim Biophys Acta. 2014 Aug;1838(8):2053-65. doi: 10.1016/j.bbamem.2014.04.023. Epub 2014 May 4.

19.
20.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS.

Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054.

PMID:
28379373

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