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2. CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2. Robbins MS; Lipton RB; Laureta EC; Grosberg BM Headache; 2009 Jul; 49(7):1042-6. PubMed ID: 19486177 [TBL] [Abstract][Full Text] [Related]
3. Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop. Cricchi F; Di Lorenzo C; Grieco GS; Rengo C; Cardinale A; Racaniello M; Santorelli FM; Nappi G; Pierelli F; Casali C J Neurol Sci; 2007 Mar; 254(1-2):69-71. PubMed ID: 17292920 [TBL] [Abstract][Full Text] [Related]
4. A family of episodic ataxia type 2: no evidence of genetic linkage to the CACNA1A gene. Hirose H; Arayama T; Takita J; Igarashi T; Hayashi Y; Nagao Y Int J Mol Med; 2003 Feb; 11(2):187-9. PubMed ID: 12525875 [TBL] [Abstract][Full Text] [Related]
5. Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large Portuguese family. Barros J; Damásio J; Tuna A; Alves I; Silveira I; Pereira-Monteiro J; Sequeiros J; Alonso I; Sousa A; Coutinho P JAMA Neurol; 2013 Feb; 70(2):235-40. PubMed ID: 23407676 [TBL] [Abstract][Full Text] [Related]
6. Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation. Zafeiriou DI; Lehmann-Horn F; Vargiami E; Teflioudi E; Ververi A; Jurkat-Rott K Eur J Paediatr Neurol; 2009 Mar; 13(2):191-3. PubMed ID: 18602318 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits. Subramony SH; Schott K; Raike RS; Callahan J; Langford LR; Christova PS; Anderson JH; Gomez CM Ann Neurol; 2003 Dec; 54(6):725-31. PubMed ID: 14681882 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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. [A sporadic case of episodic ataxia with nystagmus (EA-2)]. Namekawa M; Takiyama Y; Ueno N; Nishizawa M Rinsho Shinkeigaku; 1998 May; 38(5):446-9. PubMed ID: 9805992 [TBL] [Abstract][Full Text] [Related]
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15. Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family. Alonso I; Barros J; Tuna A; Coelho J; Sequeiros J; Silveira I; Coutinho P Arch Neurol; 2003 Apr; 60(4):610-4. PubMed ID: 12707077 [TBL] [Abstract][Full Text] [Related]
16. A novel mutation in CACNA1A associated with hemiplegic migraine, cerebellar dysfunction and late-onset cognitive decline. Freilinger T; Ackl N; Ebert A; Schmidt C; Rautenstrauss B; Dichgans M; Danek A J Neurol Sci; 2011 Jan; 300(1-2):160-3. PubMed ID: 21035146 [TBL] [Abstract][Full Text] [Related]
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18. Phenotypic variability in a four generation family with a p.Thr666Met CACNA1A gene mutation. García-Baró-Huarte M; Iglesias-Mohedano AM; Slöcker-Barrio M; Vázquez-López M; García-Morín M; Miranda-Herrero MC; Castro-Castro P Pediatr Neurol; 2014 Oct; 51(4):557-9. PubMed ID: 25266619 [TBL] [Abstract][Full Text] [Related]
19. Novel frameshift mutation in the CACNA1A gene causing a mixed phenotype of episodic ataxia and familiar hemiplegic migraine. Kinder S; Ossig C; Wienecke M; Beyer A; von der Hagen M; Storch A; Smitka M Eur J Paediatr Neurol; 2015 Jan; 19(1):72-4. PubMed ID: 25468264 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]