These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
302 related articles for article (PubMed ID: 20156848)
1. Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy. Rajakulendran S; Graves TD; Labrum RW; Kotzadimitriou D; Eunson L; Davis MB; Davies R; Wood NW; Kullmann DM; Hanna MG; Schorge S J Physiol; 2010 Jun; 588(Pt 11):1905-13. PubMed ID: 20156848 [TBL] [Abstract][Full Text] [Related]
2. Functional implications of a novel EA2 mutation in the P/Q-type calcium channel. Spacey SD; Hildebrand ME; Materek LA; Bird TD; Snutch TP Ann Neurol; 2004 Aug; 56(2):213-20. PubMed ID: 15293273 [TBL] [Abstract][Full Text] [Related]
3. Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene. Tonelli A; D'Angelo MG; Salati R; Villa L; Germinasi C; Frattini T; Meola G; Turconi AC; Bresolin N; Bassi MT J Neurol Sci; 2006 Feb; 241(1-2):13-7. PubMed ID: 16325861 [TBL] [Abstract][Full Text] [Related]
4. Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing. Labrum RW; Rajakulendran S; Graves TD; Eunson LH; Bevan R; Sweeney MG; Hammans SR; Tubridy N; Britton T; Carr LJ; Ostergaard JR; Kennedy CR; Al-Memar A; Kullmann DM; Schorge S; Temple K; Davis MB; Hanna MG J Med Genet; 2009 Nov; 46(11):786-91. PubMed ID: 19586927 [TBL] [Abstract][Full Text] [Related]
5. Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia. Stendel C; D'Adamo MC; Wiessner M; Dusl M; Cenciarini M; Belia S; Nematian-Ardestani E; Bauer P; Senderek J; Klopstock T; Pessia M Int J Mol Sci; 2020 May; 21(11):. PubMed ID: 32471306 [TBL] [Abstract][Full Text] [Related]
6. Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2. Guida S; Trettel F; Pagnutti S; Mantuano E; Tottene A; Veneziano L; Fellin T; Spadaro M; Stauderman K; Williams M; Volsen S; Ophoff R; Frants R; Jodice C; Frontali M; Pietrobon D Am J Hum Genet; 2001 Mar; 68(3):759-64. PubMed ID: 11179022 [TBL] [Abstract][Full Text] [Related]
7. CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics. Wan J; Khanna R; Sandusky M; Papazian DM; Jen JC; Baloh RW Neurology; 2005 Jun; 64(12):2090-7. PubMed ID: 15985579 [TBL] [Abstract][Full Text] [Related]
8. The ataxic groggy rat has a missense mutation in the P/Q-type voltage-gated Ca2+ channel alpha1A subunit gene and exhibits absence seizures. Tokuda S; Kuramoto T; Tanaka K; Kaneko S; Takeuchi IK; Sasa M; Serikawa T Brain Res; 2007 Feb; 1133(1):168-77. PubMed ID: 17196942 [TBL] [Abstract][Full Text] [Related]
9. 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]
11. Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2. Petrovicova A; Brozman M; Kurca E; Gobo T; Dluha J; Kalmarova K; Nosal V; Hikkelova M; Krajciova A; Burjanivova T; Sivak S Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub; 2017 Mar; 161(1):107-110. PubMed ID: 28096552 [TBL] [Abstract][Full Text] [Related]
12. Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene. Cuenca-León E; Banchs I; Serra SA; Latorre P; Fernàndez-Castillo N; Corominas R; Valverde MA; Volpini V; Fernández-Fernández JM; Macaya A; Cormand B J Neurol Sci; 2009 May; 280(1-2):10-4. PubMed ID: 19232643 [TBL] [Abstract][Full Text] [Related]
13. Epilepsy and episodic ataxia type 2: family study and review of the literature. Verriello L; Pauletto G; Nilo A; Lonigro I; Betto E; Valente M; Curcio F; Gigli GL J Neurol; 2021 Nov; 268(11):4296-4302. PubMed ID: 33983550 [TBL] [Abstract][Full Text] [Related]
14. The neuropsychiatric phenotype in CACNA1A mutations: a retrospective single center study and review of the literature. Indelicato E; Nachbauer W; Karner E; Eigentler A; Wagner M; Unterberger I; Poewe W; Delazer M; Boesch S Eur J Neurol; 2019 Jan; 26(1):66-e7. PubMed ID: 30063100 [TBL] [Abstract][Full Text] [Related]
15. 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 Lancet; 2001 Sep; 358(9284):801-7. PubMed ID: 11564488 [TBL] [Abstract][Full Text] [Related]
16. [Missense mutation R1345Q in CACNA1A gene causes a new type of ataxia with episodic tremor: clinical features, genetic analysis and treatment in a familial case]. Jiang HS; Wang DM; Wang Q; Yang M; Wang W; Pan SY; Hu YF Nan Fang Yi Ke Da Xue Xue Bao; 2016 Jun; 36(7):883-6. PubMed ID: 27435762 [TBL] [Abstract][Full Text] [Related]
17. Progressive Ataxia due to de novo Missense Variants in the CACNA1A Gene. Zhu CH; Yu JY; Ma Y; Dong Y; Wu ZY Cerebellum; 2024 Oct; 23(5):2197-2204. PubMed ID: 38869769 [TBL] [Abstract][Full Text] [Related]
18. Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia. Sintas C; Carreño O; Fernàndez-Castillo N; Corominas R; Vila-Pueyo M; Toma C; Cuenca-León E; Barroeta I; Roig C; Volpini V; Macaya A; Cormand B Sci Rep; 2017 May; 7(1):2514. PubMed ID: 28566750 [TBL] [Abstract][Full Text] [Related]
19. Calcium channels and channelopathies of the central nervous system. Pietrobon D Mol Neurobiol; 2002 Feb; 25(1):31-50. PubMed ID: 11890456 [TBL] [Abstract][Full Text] [Related]
20. Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. Mantuano E; Romano S; Veneziano L; Gellera C; Castellotti B; Caimi S; Testa D; Estienne M; Zorzi G; Bugiani M; Rajabally YA; Barcina MJ; Servidei S; Panico A; Frontali M; Mariotti C J Neurol Sci; 2010 Apr; 291(1-2):30-6. PubMed ID: 20129625 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]