245 related articles for article (PubMed ID: 33557884)
1. The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function.
Gandini MA; Souza IA; Ferron L; Innes AM; Zamponi GW
Mol Brain; 2021 Feb; 14(1):27. PubMed ID: 33557884
[TBL] [Abstract][Full Text] [Related]
2. The E1015K variant in the synprint region of the CaV2.1 channel alters channel function and is associated with different migraine phenotypes.
Condliffe SB; Fratangeli A; Munasinghe NR; Saba E; Passafaro M; Montrasio C; Ferrari M; Rosa P; Carrera P
J Biol Chem; 2013 Nov; 288(47):33873-33883. PubMed ID: 24108129
[TBL] [Abstract][Full Text] [Related]
3. Familial hemiplegic migraine type 1 mutations K1336E, W1684R, and V1696I alter Cav2.1 Ca2+ channel gating: evidence for beta-subunit isoform-specific effects.
Müllner C; Broos LA; van den Maagdenberg AM; Striessnig J
J Biol Chem; 2004 Dec; 279(50):51844-50. PubMed ID: 15448138
[TBL] [Abstract][Full Text] [Related]
4. Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
Travaglini L; Nardella M; Bellacchio E; D'Amico A; Capuano A; Frusciante R; Di Capua M; Cusmai R; Barresi S; Morlino S; Fernández-Fernández JM; Trivisano M; Specchio N; Valeriani M; Vigevano F; Bertini E; Zanni G
Eur J Paediatr Neurol; 2017 May; 21(3):450-456. PubMed ID: 28007337
[TBL] [Abstract][Full Text] [Related]
5. A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx.
Bahamonde MI; Serra SA; Drechsel O; Rahman R; Marcé-Grau A; Prieto M; Ossowski S; Macaya A; Fernández-Fernández JM
PLoS One; 2015; 10(12):e0146035. PubMed ID: 26716990
[TBL] [Abstract][Full Text] [Related]
6. Differential cerebellar GABAA receptor expression in mice with mutations in CaV2.1 (P/Q-type) calcium channels.
Kaja S; Payne AJ; Nielsen EØ; Thompson CL; van den Maagdenberg AM; Koulen P; Snutch TP
Neuroscience; 2015 Sep; 304():198-208. PubMed ID: 26208839
[TBL] [Abstract][Full Text] [Related]
7. Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.
García Segarra N; Gautschi I; Mittaz-Crettol L; Kallay Zetchi C; Al-Qusairi L; Van Bemmelen MX; Maeder P; Bonafé L; Schild L; Roulet-Perez E
J Neurol Sci; 2014 Jul; 342(1-2):69-78. PubMed ID: 24836863
[TBL] [Abstract][Full Text] [Related]
8. Two novel alleles of tottering with distinct Ca(v)2.1 calcium channel neuropathologies.
Miki T; Zwingman TA; Wakamori M; Lutz CM; Cook SA; Hosford DA; Herrup K; Fletcher CF; Mori Y; Frankel WN; Letts VA
Neuroscience; 2008 Jul; 155(1):31-44. PubMed ID: 18597946
[TBL] [Abstract][Full Text] [Related]
9. CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy.
Vahedi K; Denier C; Ducros A; Bousson V; Levy C; Chabriat H; Haguenau M; Tournier-Lasserve E; Bousser MG
Neurology; 2000 Oct; 55(7):1040-2. PubMed ID: 11061267
[TBL] [Abstract][Full Text] [Related]
10. CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report.
Romozzi M; Primiano G; Rollo E; Travaglini L; Calabresi P; Servidei S; Vollono C
J Headache Pain; 2021 Jul; 22(1):85. PubMed ID: 34320921
[TBL] [Abstract][Full Text] [Related]
11. Ca(V)2.1 P/Q-type calcium channel alternative splicing affects the functional impact of familial hemiplegic migraine mutations: implications for calcium channelopathies.
Adams PJ; Garcia E; David LS; Mulatz KJ; Spacey SD; Snutch TP
Channels (Austin); 2009; 3(2):110-21. PubMed ID: 19242091
[TBL] [Abstract][Full Text] [Related]
12. The familial hemiplegic migraine type 1 mutation K1336E affects direct G protein-mediated regulation of neuronal P/Q-type Ca2+ channels.
Garza-López E; González-Ramírez R; Gandini MA; Sandoval A; Felix R
Cephalalgia; 2013 Apr; 33(6):398-407. PubMed ID: 23430985
[TBL] [Abstract][Full Text] [Related]
13.
Zhang L; Wen Y; Zhang Q; Chen Y; Wang J; Shi K; Du L; Bao X
Front Pediatr; 2020; 8():577544. PubMed ID: 33425808
[No Abstract] [Full Text] [Related]
14. De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
Chemin J; Siquier-Pernet K; Nicouleau M; Barcia G; Ahmad A; Medina-Cano D; Hanein S; Altin N; Hubert L; Bole-Feysot C; Fourage C; Nitschké P; Thevenon J; Rio M; Blanc P; Vidal C; Bahi-Buisson N; Desguerre I; Munnich A; Lyonnet S; Boddaert N; Fassi E; Shinawi M; Zimmerman H; Amiel J; Faivre L; Colleaux L; Lory P; Cantagrel V
Brain; 2018 Jul; 141(7):1998-2013. PubMed ID: 29878067
[TBL] [Abstract][Full Text] [Related]
15. Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine.
Terwindt G; Kors E; Haan J; Vermeulen F; Van den Maagdenberg A; Frants R; Ferrari M
Arch Neurol; 2002 Jun; 59(6):1016-8. PubMed ID: 12056940
[TBL] [Abstract][Full Text] [Related]
16. Familial hemiplegic migraine Ca(v)2.1 channel mutation R192Q enhances ATP-gated P2X3 receptor activity of mouse sensory ganglion neurons mediating trigeminal pain.
Nair A; Simonetti M; Birsa N; Ferrari MD; van den Maagdenberg AM; Giniatullin R; Nistri A; Fabbretti E
Mol Pain; 2010 Aug; 6():48. PubMed ID: 20735819
[TBL] [Abstract][Full Text] [Related]
17. CaV2.1 channelopathies.
Pietrobon D
Pflugers Arch; 2010 Jul; 460(2):375-93. PubMed ID: 20204399
[TBL] [Abstract][Full Text] [Related]
18. Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
Reinson K; Õiglane-Shlik E; Talvik I; Vaher U; Õunapuu A; Ennok M; Teek R; Pajusalu S; Murumets Ü; Tomberg T; Puusepp S; Piirsoo A; Reimand T; Õunap K
Am J Med Genet A; 2016 Aug; 170(8):2173-6. PubMed ID: 27250579
[TBL] [Abstract][Full Text] [Related]
19. Zebrafish as a Model System for the Study of Severe Ca
Tyagi S; Ribera AB; Bannister RA
Front Mol Neurosci; 2019; 12():329. PubMed ID: 32116539
[TBL] [Abstract][Full Text] [Related]
20. Synaptic gain-of-function effects of mutant Cav2.1 channels in a mouse model of familial hemiplegic migraine are due to increased basal [Ca2+]i.
Di Guilmi MN; Wang T; Inchauspe CG; Forsythe ID; Ferrari MD; van den Maagdenberg AM; Borst JG; Uchitel OD
J Neurosci; 2014 May; 34(21):7047-58. PubMed ID: 24849341
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]